From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah‐Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan‐Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud‐Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud‐Bataille, Giovanni Stevanin, Cyril Goizet
Euro J of Neurology. 2024-12-27
10.1111/ene.70025

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina C. Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
Mol Psychiatry. 2024-02-28
10.1038/s41380-024-02469-w

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Durr
eBioMedicine. 2024-01-01
10.1016/j.ebiom.2023.104931

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Sandra Martins, Ashraf Yahia, Inês P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, António Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros
Hum. Genet.. 2023-11-14
10.1007/s00439-023-02611-8

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes
Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Patrice Menegon, Elizabeth Sarrazin, Rémi Bellance, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, Solène Frismand, Emmanuelle Schmitt, Marie Rouanet, Lydie Burglen, Brigitte Chabrol, Béatrice Desnous, Benoît Arveiler, Giovanni Stevanin, Isabelle Coupry, Cyril Goizet
Movement Disorders. 2023-08-21
10.1002/mds.29576

White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, Massimiliano Filosto, Elisa Cali, Henry Houlden, Paulo Sgobbi de Souza, Afagh Alavi, Cyril Goizet, Giovanni Stevanin, Frederic Taithe, Francesco Nicita, Gessica Vasco, Stefano Tozza, Sirio Cocozza, Nicola Carboni, Andrea Figus, Jianjun Wu, A. Nazli Basak, Bernard Brais, Guy Rouleau, Roberta La Piana
J Neurol. 2023-08-14
10.1007/s00415-023-11918-5

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, Christian Gilissen & Solve-RD consortium
Hum Genomics. 2023-05-03
10.1186/s40246-023-00485-5

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin
Eur J Hum Genet. 2023-04-03
10.1038/s41431-023-01344-6

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon et al
Genetics in Medicine. 2023-04-01
10.1016/j.gim.2023.100018

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Adam Jackson et al
Human Genetics and Genomics Advances. 2023-04-01
10.1016/j.xhgg.2023.100186

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
Danique Beijer, Brent L. Fogel, Sergi Beltran, Matt C. Danzi, Andrea H. Németh, Stephan Züchner, Matthis Synofzik, Astrid Adarmes, Saud Alhusaini, Mahmoud Reza Ashrafi, Luis Bataller, Enrico Bertini, Sylvia Boesch, Ronald Buijsen, Emanuel Cassou, Edwin Chan, Joana Damásio, Karina Donis, Ewelina Elert-Dobkowska, Liena Elsayed, Carmen Espinos, Haşmet Hanağasi, Morteza Heidari, Wolfgang Nachbauer, Jorge Oliveira, Puneet Opal, Coro Paisan-Ruiz, Hélène Puccio, Francesco Saccà, Maria Luiza Saraiva-Pereira, Thorsten Schmidt, Rebecca Schüle, Giovanni Stevanin, Carlo Wilke, Grace Yoon, Neta Zach, Ginevra Zanni,
Cerebellum. 2023-03-04
10.1007/s12311-023-01537-1

Genetics of Dominant Ataxias
Ashraf Yahia, Giovanni Stevanin
Contemporary Clinical Neuroscience. 2023-01-01
10.1007/978-3-031-24345-5_4

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4
Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr
Genetics in Medicine. 2022-11-01
10.1016/j.gim.2022.07.023

CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators
Michaela Hörner, Janos Groh, Dennis Klein, Winfried Ilg, Ludger Schöls, Sara Dos Santos, Anna Bergmann, Stephan Klebe, Margaux Cauhape, Julien Branchu, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios, Rudolf Martini
Experimental Neurology. 2022-09-01
10.1016/j.expneurol.2022.114119

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, Claire Ewenczyk, Kayli C. Davies, Patricia Lino‐Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R. E. Ansell, Ivo van der Stelt, Katherine B. Howell, Marie Coutelier, David J. Amor, Emeline Mundwiller, Lena Guillot‐Noël, Elsdon Storey, R. J. McKinlay Gardner, Mathew J. Wallis, Alfredo Brusco, Olga Corti, Agnès Rötig, Richard J. Leventer, Alexis Brice, Martin B. Delatycki, Giovanni Stevanin, Paul J. Lockhart, Alexandra Durr
Annals of Neurology. 2022-05-07
10.1002/ana.26366

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot‐Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W. Rattay, María‐Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets,
Movement Disorders. 2022-02-12
10.1002/mds.28959

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
Ashraf Yahia, Ikhlas Ben Ayed, Ahlam A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Aisha M. Bakhiet, Lena Guillot‐Noel, Fatima Abozar, Rawaa Adil, Sara Emad, Rayan Abubaker, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Omer M. Maaroof, Amal Soussi, Amal Bouzid, Sana Kmiha, Hassen Kamoun, Mustafa A. Salih, Ammar E. Ahmed, Liena Elsayed, Saber Masmoudi, Giovanni Stevanin
Annals of Human Genetics. 2022-02-03
10.1111/ahg.12460

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Jean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Durr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Koenig, Pierre Labauge, Eric Leguern, Karine N’Guyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Giovanni Stevanin
Brain. 2022-01-04
10.1093/brain/awab386

Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
Liena E. O. Elsayed, Isra Zuhair Eltazi, Ammar E. Ahmed, Giovanni Stevanin
Front. Mol. Biosci.. 2021-11-26
10.3389/fmolb.2021.690899

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger, Ganapathi-Varma Saripella, François Ancien, Fabrizio Pucci, Marianne Rooman, Dimitri Gilis, Roxanne Larivière, Nicolas Sgarioto, Rémi Valter, Léna Guillot-Noel, Isabelle Le Ber, Sabrina Sayah, Perrine Charles, Astrid Nümann, Martje G Pauly, Christoph Helmchen, Natalie Deininger, Tobias B Haack, Bernard Brais, Alexis Brice, David-Alexandre Trégouët, Khalid H El Hachimi, Eric A Shoubridge, Alexandra Durr, Giovanni Stevanin
Brain. 2021-11-11
10.1093/brain/awab407

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Genetics in Medicine. 2021-10-01
10.1038/S41436-020-01064-Y

Implication of folate deficiency in CYP2U1 loss of function.
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Issa, Stephane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G. Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid H. El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D. Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo M. Santorelli, Cyril Goizet, Maha S. Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Cyril Mignot, Alexandra Durr, Aleksandra Trifunovic, Giovanni Stevanin
Journal of Experimental Medicine. 2021-09-21
10.1084/jem.20210846

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)
Rebecca Schüle et al
Eur J Hum Genet. 2021-08-25
10.1038/s41431-021-00935-5

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
Ashraf Yahia, Liena E. O. Elsayed, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z. M. Eltazi, Arwa Babai, Elhami A. A. Ahmed, Amal S. I. Abd Allah, Mathilde Mairey, Ahmed K. M. A. Ahmed, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin
Front. Neurol.. 2021-08-20
10.3389/fneur.2021.720201

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (European Journal of Human Genetics, (2021), 29, 9, (1337-1347), 10.1038/s41431-021-00852-7)
Leslie Matalonga et al
Eur J Hum Genet. 2021-08-16
10.1038/s41431-021-00934-6

Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (European Journal of Human Genetics, (2021), 29, 9, (1325-1331), 10.1038/s41431-021-00859-0)
Birte Zurek et al
Eur J Hum Genet. 2021-08-13
10.1038/s41431-021-00936-4

Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia
Liriopé Toupenet Marchesi, Marion Leblanc, Giovanni Stevanin
Cells. 2021-07-02
10.3390/cells10071678

Editorial: Hereditary Spastic Paraplegias: At the Crossroads of Molecular Pathways and Clinical Options
Andrea Martinuzzi, Craig Blackstone, Cahir J. O'Kane, Giovanni Stevanin
Front. Neurosci.. 2021-06-22
10.3389/FNINS.2021.708642

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
Mahmoud Koko, Ashraf Yahia, Liena E. Elsayed, Ahlam A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Muddathir H. A. Hamad, Arwa M. Babai, Rayan A. Siddig, Amal S. I. Abd Allah, Mayada Mohamed, Melka EL‐Amin, Typhaine Esteves, Janine Altmüller, Mohammad Reza Toliat, Holger Thiele, Peter Nürnberg, Mustafa A. Salih, Ammar E. Ahmed, Holger Lerche, Giovanni Stevanin
Annals of Human Genetics. 2021-06-10
10.1111/AHG.12437

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek et al
Eur J Hum Genet. 2021-06-01
10.1038/s41431-021-00859-0

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Leslie Matalonga et al
Eur J Hum Genet. 2021-06-01
10.1038/s41431-021-00852-7

Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Rebecca Schüle et al
Eur J Hum Genet. 2021-05-10
10.1038/s41431-021-00901-1

Evidence of mosaicism in SPAST variant carriers in four French families
Chloé Angelini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Bénédicte Heron, Bophara Kol, Marine Guillaud-Bataille, Perrine Pennamen, Caroline Rooryck, Clarisse Scherer-Gagou, Laurène Tissier, Giovanni Stevanin, Eric Leguern, Guillaume Banneau
Eur J Hum Genet. 2021-05-06
10.1038/S41431-021-00847-4

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia
Adriana P Rebelo, Ilse Eidhof, Vivian P Cintra, Léna Guillot-Noel, Claudia V Pereira, Dagmar Timmann, Andreas Traschütz, Ludger Schöls, Giulia Coarelli, Alexandra Durr, Mathieu Anheim, Christine Tranchant, Bart van de Warrenburg, Claire Guissart, Michel Koenig, Jack Howell, Carlos T Moraes, Annette Schenck, Giovanni Stevanin, Stephan Züchner, Matthis Synofzik,
Brain. 2021-04-23
10.1093/brain/awab071

Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56.
A. Legrand, C. Pujol, C. M. Durand, A. Mesnil, I. Rubera, C. Duranton, S. Zuily, A. B. Sousa, M. Renaud, J. L. Boucher, N. Pietrancosta, S. Adham, C. Orssaud, C. Marelli, C. Casali, L. Ziccardi, N. Villain, C. Ewenczyk, A. Durr, C. Mignot, G. Stevanin, C. Billon, M. Hureaux, X. Jeunemaitre, C. Goizet, J. Albuisson
J Intern Med. 2021-03-31
10.1111/joim.13193

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives
Ashraf Yahia, Giovanni Stevanin
Front. Genet.. 2021-03-23
10.3389/FGENE.2021.638730

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Ashraf Yahia, Zhefan Stephen Chen, Ammar E. Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M. A. Taha, Mustafa A. Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
BMC Neurol. 2021-02-18
10.1186/S12883-021-02113-Y

Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Bophara Kol, Thomas Bourinaris, Samia A. Said, Yann Péréon, Anna Heinzmann, Rabab Debs, Raul Juntas‐Morales, Victoria G. Martinez, Jean P. Camdessanche, Clarisse Scherer‐Gagou, Jean‐Médard Zola, Alkyoni Athanasiou‐Fragkouli, Stephanie Efthymiou, George Vavougios, Georgios Velonakis, Maria Stamelou, John Tzartos, Constantin Potagas, Thomas Zambelis, Caterina Mariotti, Craig Blackstone, Jana Vandrovcova, Theodoros Mavridis, Chrisoula Kartanou, Leonidas Stefanis, Nicholas Wood, Georgia Karadima, Eric LeGuern, Georgios Koutsis, Henry Houlden, Giovanni Stevanin
Movement Disorders. 2021-02-05
10.1002/mds.28487

Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal Loureiro, Cyril Goizet, Alexandra Durr, Martin Paucar, Giovanni Stevanin
Neurogenetics. 2021-01-23
10.1007/s10048-020-00633-2

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Jean‐Madeleine Sainte Agathe, Sandra Mercier, Jean‐Yves Mahé, Yann Péréon, Julien Buratti, Laurène Tissier, Bophara Kol, Samia Ait Said, Éric Leguern, Guillaume Banneau, Giovanni Stévanin
Mov Disord. 2020-11-09
10.1002/MDS.28371

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Genetics in Medicine. 2020-11-01
10.1038/s41436-020-0899-x

Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Genetics in Medicine. 2020-11-01
10.1038/S41436-020-0899-X

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Front. Neurol.. 2020-10-29
10.3389/fneur.2020.569996

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.
Frédéric Darios, Giovanni Stevanin
Journal of Molecular Biology. 2020-04-01
10.1016/j.jmb.2020.02.033

Lipids in the Physiopathology of Hereditary Spastic Paraplegias.
Frédéric Darios, Fanny Mochel, Giovanni Stevanin
Front. Neurosci.. 2020-02-28
10.3389/fnins.2020.00074

Neurogenetic disorders in Africa: Hereditary spastic paraplegia: A case study
Liena E. O. Elsayed, Ammar E. M. Ahmed, Giovanni Stevanin
The Genetics of African Populations in Health and Disease. 2019-12-19
10.1017/9781139680295.013

Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps
Neurol Genet. 2019-11-13
10.1212/nxg.0000000000000374

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis.
Maxime Boutry, Alexandre Pierga, Raphaël Matusiak, Julien Branchu, Marc Houllegatte, Yoan Ibrahim, Elise Balse, Khalid-Hamid El Hachimi, Alexis Brice, Giovanni Stevanin, Frédéric Darios
Commun Biol. 2019-10-17
10.1038/s42003-019-0615-z

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Giulia Coarelli, Rebecca Schule, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Ludger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D'Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstock, Fanny Mochel, Elisabeth Ollagnon-Roman, Marc D'Hooghe, Christoph Kamm, Delia Kurzwelly, Melanie Papin, Claire-Sophie Davoine, Guillaume Banneau, Sophie Tezenas du Montcel, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Giovanni Stevanin, Alexandra Durr
Neurology. 2019-05-08
10.1212/wnl.0000000000007606

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.
Liena E. O. Elsayed, Isra Z. M. Eltazi, Ammar E. M. Ahmed, Giovanni Stevanin
Expert Review of Neurotherapeutics. 2019-04-30
10.1080/14737175.2019.1608824

Update on the Genetics of Spastic Paraplegias.
Maxime Boutry, Sara Morais, Giovanni Stevanin
Curr Neurol Neurosci Rep. 2019-02-28
10.1007/s11910-019-0930-2

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stevanin, Christel Depienne, Alexandra Durr, Myriem Abada, Mathieu Anheim, Dominique Bonneau, Perrine Charles, Pierre Clavelou, Giulia Coarelli, Paula Coutinho, Rabab Debs, Nizard Elleuch, Claire Ewenczyk, Imed Feki, Xavier Ferrer, Bertrand Fontaine, Cyril Goizet, Lucie Guyant-Marechal, Didier Hannequin, Solveig Heide, Abdoul Kassar, Pierre Labauge, Alain Lagueny, Isabelle Le Ber, Thomas Lenglet, Lionel Maldergem, Cecilia Marelli, Karine Nguyen, Diana Rodriguez, Tanya Stojkovic, Alina Tataru, Maya Tchikviladze, Christine Tranchant, Nadia Vandenberghe,
Brain. 2018-11-23
10.1093/brain/awy285

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
BMC Neurol. 2018-10-23
10.1186/s12883-018-1180-7

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
Amandine Duchesne, Anne Vaiman, Magali Frah, Sandrine Floriot, Sabrina Legoueix-Rodriguez, Anne Desmazières, Sébastien Fritz, Christian Beauvallet, Olivier Albaric, Eric Venot, Maud Bertaud, Romain Saintilan, Raphaël Guatteo, Diane Esquerré, Julien Branchu, Anaïs Fleming, Alexis Brice, Frédéric Darios, Jean-Luc Vilotte, Giovanni Stevanin, Didier Boichard, Khalid Hamid El Hachimi
PLoS Genet. 2018-08-01
10.1371/journal.pgen.1007550

Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr
Current Opinion in Neurology. 2018-08-01
10.1097/wco.0000000000000585

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic.
Sawssan Ben Romdhan, Nouha Farhat, Amina Nasri, Suzanne Lesage, Olfa Hdiji, Mouna Ben Djebara, Zied Landoulsi, Giovanni Stevanin, Alexis Brice, Mariem Damak, Riadh Gouider, Chokri Mhiri
Acta Neurol Scand. 2018-07-10
10.1111/ane.12996

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.
Maxime Boutry, Julien Branchu, Céline Lustremant, Claire Pujol, Julie Pernelle, Raphaël Matusiak, Alexandre Seyer, Marion Poirel, Emeline Chu-Van, Alexandre Pierga, Kostantin Dobrenis, Jean-Philippe Puech, Catherine Caillaud, Alexandra Durr, Alexis Brice, Benoit Colsch, Fanny Mochel, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Cell Reports. 2018-06-01
10.1016/j.celrep.2018.05.098

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
Clémence Fournier, , Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Laura Molina-Porcel, Sabrina Turbant, Daisy Rinaldi, Raquel Sánchez-Valle, Mathieu Barbier, Morwena Latouche, Giovanni Stevanin, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Isabelle Le Ber
acta neuropathol commun. 2018-05-30
10.1186/s40478-018-0547-8

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
BMC Med Genet. 2018-05-08
10.1186/s12881-018-0592-y

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr,
JAMA Neurol. 2018-05-01
10.1001/jamaneurol.2017.5121

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Paola Salmin, Patrizia Pappi, Elisa Giorgio, Elisa Pozzi, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Alessandro Filla, Giuseppe De Michele, Cinzia Gellera, Caterina Mariotti, Suran Nethisinghe, Paola Giunti, Giovanni Stevanin, Alfredo Brusco
The Journal of Molecular Diagnostics. 2018-05-01
10.1016/j.jmoldx.2017.12.006

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, Inge E. Krabbendam, Stefano Rivetti, Rafik Masalha, Marialuisa Quadri, Guido J. Breedveld, Hanna Mandel, Muhammad Abu Tailakh, H. Berna Beverloo, Giovanni Stevanin, Alexis Brice, Wilfred F.J. van IJcken, Meike W. Vernooij, Amalia M. Dolga, Femke M.S. de Vrij, Vincenzo Bonifati, Steven A. Kushner
Neurol Genet. 2018-03-21
10.1212/nxg.0000000000000223

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Aurélien Trimouille, Émilie Obre, Guillaume Banneau, Alexandra Durr, Giovanni Stevanin, Fabienne Clot, Perrine Pennamen, Jean-Thomas Perez, Clémence Bailly-Scappaticci, Marie Rouanet, Claire Delleci, Guilhem Sole, Stéphane Mathis, Cyril Goizet
Clinical Neurology and Neurosurgery. 2018-03-01
10.1016/j.clineuro.2018.01.013

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Timothy Newton, Rachel Allison, James R Edgar, Jennifer H Lumb, Catherine E Rodger, Paul T Manna, Tania Rizo, Zacharias Kohl, Anders O H Nygren, Larissa Arning, Rebecca Schüle, Christel Depienne, Lisa Goldberg, Christiane Frahm, Giovanni Stevanin, Alexandra Durr, Ludger Schöls, Beate Winner, Christian Beetz, Evan Reid
Brain. 2018-02-22
10.1093/brain/awy034

Reply: Updated frequency analysis of spinocerebellar ataxia in China.
Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Brain. 2018-02-12
10.1093/brain/awy018

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Natalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, Seyyedmohsen Hosseinibarkooie, Heiko Löhr, Svenja Schneider, Janine Milbradt, Mert Karakaya, Markus Riessland, Christian Pichlo, Laura Torres-Benito, Andrew Singleton, Stephan Zuchner, Alexis Brice, Alexandra Durr, Matthias Hammerschmidt, Giovanni Stevanin, Brunhilde Wirth
Neurol Genet. 2018-01-19
10.1212/nxg.0000000000000209

SCA3, Machado-Joseph Disease
Giovanni Stevanin, Sandro Alves, Alexandra Durr
Reference Module in Neuroscience and Biobehavioral Psychology. 2018-01-01
10.1016/B978-0-12-809324-5.23362-2

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaetan Lesca, Christel Thauvin-Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stevanin, David Hajage, Alexandra Durr, Cyril Goizet, Fanny Mochel
Brain. 2017-12-08
10.1093/brain/awx297

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
Rodolphe Dard, Claire Meyniel, Valérie Touitou, Giovanni Stevanin, Foudil Lamari, Alexandra Durr, Claire Ewenczyk, Fanny Mochel
European Journal of Medical Genetics. 2017-12-01
10.1016/j.ejmg.2017.08.015

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Christelle M. Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios, Khalid H. El- Hachimi, Guja Astrea, François Rivier, Guillaume Banneau, Claire Pujol, Didier Lacombe, Alexandra Durr, Patrick J. Babin, Filippo M. Santorelli, Nicolas Pietrancosta, Jean-Luc Boucher, Daniel Mansuy, Giovanni Stevanin, Cyril Goizet
Human Mutation. 2017-11-11
10.1002/humu.23359

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra Da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stevanin, Stéphanie Millecamps
Neurobiology of Aging. 2017-10-01
10.1016/j.neurobiolaging.2017.06.018

Features of hereditary spastic paraplegias in North African region
C. Mhiri, A. Boukhris, G. Stevanin, A. Brice
Journal of the Neurological Sciences. 2017-10-01
10.1016/J.JNS.2017.08.082

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stevanin
Eur J Hum Genet. 2017-08-23
10.1038/ejhg.2017.124

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M. Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Neurobiology of Disease. 2017-06-01
10.1016/j.nbd.2017.02.007

Hereditary spastic paraplegia: More than an upper motor neuron disease.
L. Parodi, S. Fenu, G. Stevanin, A. Durr
Revue Neurologique. 2017-05-01
10.1016/j.neurol.2017.03.034

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Brain. 2017-04-21
10.1093/brain/awx081

ATXN2 trinucleotide repeat length correlates with risk of ALS.
William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D. Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A. Ross, Francois Salachas, Katie Sidle, Bradley N. Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Ammar Al-Chalabi
Neurobiology of Aging. 2017-03-01
10.1016/j.neurobiolaging.2016.11.010

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Monia B. Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J. Raphael Gibbs, Sampath K. Arepalli, Sean B. Chong, Dena G. Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B. Singleton
Neurodegener Dis. 2017-01-01
10.1159/000464445

SCA5 (spinocerebellar ataxia 5)
G. Stevanin, A. Durr
Reference Module in Neuroscience and Biobehavioral Psychology. 2017-01-01
10.1016/B978-0-12-809324-5.00794-X

SCA7 (Spinocerebellar ataxia with macular dystrophy)
G. Stevanin, A. Sittler, B. Puech
Reference Module in Neuroscience and Biobehavioral Psychology. 2017-01-01
10.1016/B978-0-12-809324-5.00796-3

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
Julie Lavie, Román Serrat, Nadège Bellance, Gilles Courtand, Jean-William Dupuy, Christelle Tesson, Isabelle Coupry, Alexis Brice, Didier Lacombe, Alexandra Durr, Giovanni Stevanin, Fréderic Darios, Rodrigue Rossignol, Cyril Goizet, Giovanni Bénard
Hum. Mol. Genet.. 2016-12-22
10.1093/hmg/ddw425

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L. Blakely, Vivek Appadurai, Margaret M. Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W. Taylor, William C. Copeland, Eric Mormont, Penelope E. Bonnen
Ann Clin Transl Neurol. 2016-11-16
10.1002/acn3.361

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
Eur J Hum Genet. 2016-09-07
10.1038/EJHG.2016.108

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Louise-Laure Mariani, Christelle Tesson, Perrine Charles, Cécile Cazeneuve, Valérie Hahn, Katia Youssov, Leorah Freeman, David Grabli, Emmanuel Roze, Sandrine Noël, Jean-Noel Peuvion, Anne-Catherine Bachoud-Levi, Alexis Brice, Giovanni Stevanin, Alexandra Durr
JAMA Neurol. 2016-09-01
10.1001/jamaneurol.2016.2215

DNA REPAIR PATHWAYS AS A COMMON GENETIC MECHANISM MODULATING THE AGE AT ONSET IN POLYGLUTAMINE DISEASES
Conceição Bettencourt, Davina Hensman Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stevanin, Georgios Koutsis, Georgia Karadima, Marios Panas, Petra Yescas-Gómez, Lizbeth Esmeralda García-Velázquez, María Elisa Alonso-Vilatela, Manuela Lima, Mafalda Raposo, Bryan Traynor, Mary Sweeney, Nicholas Wood, Paola Giunti, Alexandra Durr, Peter Holmans, Henry Houlden, Sarah J Tabrizi, Lesley Jones,
J Neurol Neurosurg Psychiatry. 2016-09-01
10.1136/JNNP-2016-314597.79

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.
Sandro Alves, Thibaut Marais, Maria-Grazia Biferi, Denis Furling, Martina Marinello, Khalid El Hachimi, Nathalie Cartier, Merle Ruberg, Giovanni Stevanin, Alexis Brice, Martine Barkats, Annie Sittler
Mol Neurodegeneration. 2016-07-28
10.1186/s13024-016-0123-2

Multicentre prospective cohort study of body mass index and postoperative complications following gastrointestinal surgery
, T M Drake, D Nepogodiev, S J Chapman, J C Glasbey, C Khatri, C Y Kong, H A Claireaux, M F Bath, M Mohan, L McNamee, M Kelly, H Mitchell, J E Fitzgerald, E M Harrison, A Bhangu, I Antoniou, R Dean, N Davies, S Trecarten, I Henderson, C Holmes, J Wylie, R H Shuttleworth, A Jindal, F Hughes, P Gouda, R Fleck, M Hanrahan, P Karunakaran, J H Chen, M C Sykes, R K Sethi, S Suresh, P Patel, M Patel, R K Varma, J Mushtaq, B Gundogan, W Bolton, T Khan, J Burke, R Morley, N Favero, R Adams, V Thirumal, E D Kennedy, K K Ong, Y H Tan, J Gabriel, A Bakhsh, J Y L Low, A Yener, V Paraoan, R Preece, T W Tilston, E Cumber, S Dean, T Ross, E McCance, H Amin, L Satterthwaite, K D Clement, R Gratton, E D Mills, S M Chiu, G Hung, N M Rafiq, J D B Hayes, K L Robertson, K Dynes, H C Huang, S Assadullah, J W Duncumb, R D C Moon, S X Poo, J K Mehta, K R Joshi, R Callan, J M Norris, N J Chilvers, H Keevil, P Jull, S Mallick, D Elf, L Carr, C Player, E C Barton, A L Martin, S G Ratu, E J Roberts, P N Phan, A R Dyal, J E Rogers, A D Henson, N B Reid, D Burke, G Culleton, S Lynne, S Mansoor, C Brennan, R Blessed, C Holloway, A Hill, T Goldsmith, S Mackin, S Kim, E Woin, G Brent, J Coffin, O Ziff, Z Momoh, R Debenham, M Ahmed, C S Yong, J C Wan, H C Copley, P Raut, F I Chaudhry, G Nixon, C Dorman, R Tan, S Kanabar, N Canning, M Dolaghan, N Bell, M McMenamin, A Chhabra, K Duke, L Turner, T Patel, L S Chew, M Mirza, S Lunawat, B Oremule, N Ward, M Khan, E T Tan, D Maclennan, R J McGregor, E G Chisholm, E J Griffin, L Bell, B A Hughes, J Davies, H Haq, H Ahmed, N Ungcharoen, C Whacha, R Thethi, R M Markham, A H Y Lee, E Batt, N P Bullock, C T Francescon, J E Davies, N M Shafiq, J Zhao, S Vivekanantham, I Barai, J L Y Allen, D C Marshall, C J McIntyre, H C P Wilson, A J Ashton, C Lek, N Behar, M Davis-Hall, N Seneviratne, L Esteve, M Sirakaya, S Ali, S Pope, J S Ahn, A Craig-McQuaide, W A Gatfield, S Leong, A M Demetri, A L Kerr, C Rees, J Loveday, S Liu, M Wijesekera, D Maru, M Attalla, N Smith, D 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Livesey, P Holton, M D Theodoreson, S L Jenkin, J Turner, J H Entwisle, S T Marchal, S O'Connor, H K Blege, J M Aithie, L M Sabine, G E Stewart, S Jackson, A Kishore, C M Lankage, F Acquaah, H L Joyce, K L McKevitt, C J Coffey, A S Fawaz, K S Dolbec, D A O'Sullivan, J M Geraghty, E Lim, L Bolton, D FitzPatrick, C Robinson, T Ramtoola, S Collinson, L Grundy, P M McEnhill, G S Harbhajan Singh, D Loughran, D M Golding, R E Keeling, R P Williams, R D J Whitham, S Yoganathan, R Nachiappan, R J Egan, R Owasil, M L Kwan, A He, R W Goh, R Bhome, H Wilson, P J Teoh, K Raji, N Jayakody, J Matthams, J Chong, C Y Luk, R J Greig, M Trail, G Charalambous, A S Rocke, N Gardiner, F Bulley, N Warren, E Brennan, P Fergurson, R Wilson, H Whittingham, E J Brown, R Khanijau, K Gandhi, S Morris, A J Boulton, N Chandan, A E Barthorpe, R Maamari, S Sandhu, M McCann, L Higgs, V Balian, C Reeder, C Diaper, T Sale, H Ali, C H Archer, A K Clarke, J Heskin, P C Hurst, J D Farmer, L D O'Flynn, L Doan, B A Shuker, G D Stott, N A Vithanage, K A Hoban, P N Nesargikar, H R Kennedy, C M Grossart, E S M Tan, C S D Roy, P Sim, K E Leslie, D Sim, M H Abul, N Cody, A Y Tay, E Woon, S Sng, J Mah, J Robson, E Shakweh, V C Wing, H Mills, M M Li, T R Barrow, S Balaji, H E M Jordan, C Phillips, H Naveed, S Hirani, A Tai, R Ratnakumaran, A Sahathevan, A M A Shafi, M Seedat, R Weaver, A Batho, R Punj, H Selvachandran, N Bhatt, S Botchey, Z Khonat, K Brennan, C J Morrison, E Devlin, A Linton, E Galloway, S McGarvie, N Ramsay, H D McRobbie, H Whewell, W Dean, S Nelaj, M Eragat, A Mishra, T Kane, M Zuhair, M Wells, D Wilkinson, N Woodcock, E Sun, N Aziz, M K Abd Ghaffar
British Journal of Surgery. 2016-06-20
10.1002/BJS.10203

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B. Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudry
Cell Reports. 2016-06-01
10.1016/j.celrep.2016.05.044

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Conceição Bettencourt, Davina Hensman-Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stevanin, Georgios Koutsis, Georgia Karadima, Marios Panas, Petra Yescas-Gómez, Lizbeth Esmeralda García-Velázquez, María Elisa Alonso-Vilatela, Manuela Lima, Mafalda Raposo, Bryan Traynor, Mary Sweeney, Nicholas Wood, Paola Giunti, Alexandra Durr, Peter Holmans, Henry Houlden, Sarah J. Tabrizi, Lesley Jones,
Ann Neurol.. 2016-05-06
10.1002/ana.24656

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Paola S. Denora, Katrien Smets, Federica Zolfanelli, Chantal Ceuterick-de Groote, Carlo Casali, Tine Deconinck, Anne Sieben, Michael Gonzales, Stephan Zuchner, Frédéric Darios, Dirk Peeters, Alexis Brice, Alessandro Malandrini, Peter De Jonghe, Filippo M. Santorelli, Giovanni Stevanin, Jean-Jacques Martin, Khalid H. El Hachimi
Brain. 2016-03-25
10.1093/brain/aww061

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
Liena Elbaghir Omer Elsayed, Valérie Drouet, Tatiana Usenko, Inaam N. Mohammed, Ahlam AbdAlrahman Ahmed Hamed, Maha Abdelmoneim Elseed, Mustafa A.M. Salih, Mahmoud Eltayeb Koko, Ashraf Yahia Osman Mohamed, Rayan Abubaker Siddig, Mustafa Idris Elbashir, Muntaser Eltayeb Ibrahim, Alexandra Durr, Giovanni Stevanin, Suzanne Lesage, Ammar Eltahir Ahmed, Alexis Brice
Ann Neurol.. 2016-01-19
10.1002/ana.24591

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, Rebecca Schüle, Sven Klimpe, Stephan Klebe, Christiane Frahm, Jan Kassubek, Giovanni Stevanin, Ludger Schöls, Alexis Brice, Christian A. Hübner, Christian Beetz
Orphanet J Rare Dis. 2015-11-16
10.1186/S13023-015-0359-X

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen, Christel Thauvin-Robinet, Christophe Verny, Dan Milea, Gaëtan Lesca, Michel Koenig, Diana Rodriguez, Nada Houcinat, Julien Van-Gils, Christelle M. Durand, Agnès Guichet, Magalie Barth, Dominique Bonneau, Philippe Convers, Elisabeth Maillart, Lucie Guyant-Marechal, Didier Hannequin, Guillaume Fromager, Alexandra Afenjar, Sandra Chantot-Bastaraud, Stéphanie Valence, Perrine Charles, Patrick Berquin, Caroline Rooryck, Julie Bouron, Alexis Brice, Didier Lacombe, Rodrigue Rossignol, Giovanni Stevanin, Giovanni Benard, Lydie Burglen, Alexandra Durr, Cyril Goizet, Isabelle Coupry
Ann Neurol.. 2015-11-14
10.1002/ana.24509

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie-Lorraine Monin, Kunie Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Philippe Lory, Giovanni Stevanin
The American Journal of Human Genetics. 2015-11-01
10.1016/j.ajhg.2015.09.007

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Marie Coutelier, Fanny Mochel, Jean-Marie Saudubray, Chris Ottolenghi, Giovanni Stevanin
Brain. 2015-08-21
10.1093/brain/awv248

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Jennifer Hirst, James R. Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H. Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stevanin, Craig Blackstone, Michael C. Kruer, Margaret S. Robinson
Hum. Mol. Genet.. 2015-06-17
10.1093/hmg/ddv220

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.
Amanda Krause, Claire Mitchell, Fahmida Essop, Susan Tager, James Temlett, Giovanni Stevanin, Christopher Ross, Dobrila Rudnicki, Russell Margolis
Am. J. Med. Genet.. 2015-06-16
10.1002/ajmg.b.32332

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
S. Klebe, G. Stevanin, C. Depienne
Revue Neurologique. 2015-06-01
10.1016/J.NEUROL.2015.02.017

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stevanin
Brain. 2015-05-29
10.1093/brain/awv143

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
Carlo Rinaldi, Thomas Schmidt, Alan J. Situ, Janel O. Johnson, Philip R. Lee, Ke-lian Chen, Laura C. Bott, Rut Fadó, George H. Harmison, Sara Parodi, Christopher Grunseich, Benoît Renvoisé, Leslie G. Biesecker, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla, Giovanni Stevanin, Alexandra Dürr, Alexis Brice, Núria Casals, Bryan J. Traynor, Craig Blackstone, Tobias S. Ulmer, Kenneth H. Fischbeck
JAMA Neurol. 2015-05-01
10.1001/jamaneurol.2014.4769

Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
A. Duarri, E. Nibbeling, M. R. Fokkens, M. Meijer, E. Boddeke, E. Lagrange, G. Stevanin, A. Brice, A. Durr, D. S. Verbeek
Neurogenetics. 2015-04-12
10.1007/s10048-015-0447-z

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together (vol 14, pg 257, 2013)
A. Duarri, E. Nibbeling, M. R. Fokkens, M. Meijer, E. Boddeke, E. Lagrange, G. Stevanin, A. Brice, A. Durr, D. S. Verbeek
Neurogenetics. 2015-04-12
10.1007/S10048-015-0447-Z

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.
Marie Coutelier, Giovanni Stevanin, Alexis Brice
J Neurol. 2015-04-11
10.1007/s00415-015-7725-4

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.
M. Coutelier, L. Burglen, E. Mundwiller, M. Abada-Bendib, D. Rodriguez, S. Chantot-Bastaraud, C. Rougeot, M.-A. Cournelle, M. Milh, A. Toutain, D. Bacq, V. Meyer, A. Afenjar, J.-F. Deleuze, A. Brice, D. Heron, G. Stevanin, A. Durr
Neurology. 2015-04-03
10.1212/WNL.0000000000001524

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Christelle Tesson, Jeanette Koht, Giovanni Stevanin
Hum Genet. 2015-03-11
10.1007/s00439-015-1536-7

The impact of rare variants in FUS in essential tremor.
Franziska Hopfner, Giovanni Stevanin, Stefanie H. Müller, Emeline Mundwiller, May Bungeroth, Alexandra Durr, Manuela Pendziwiat, Mathieu Anheim, Susanne A. Schneider, Lukas Tittmann, Stephan Klebe, Delia Lorenz, Günther Deuschl, Alexis Brice, Gregor Kuhlenbäumer
Mov Disord.. 2015-01-28
10.1002/mds.26145

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
A. Lossos, C. Stumpfig, G. Stevanin, M. Gaussen, B.-E. Zimmerman, E. Mundwiller, M. Asulin, L. Chamma, R. Sheffer, A. Misk, S. Dotan, J. M. Gomori, P. Ponger, A. Brice, I. Lerer, V. Meiner, R. Lill
Neurology. 2015-01-21
10.1212/WNL.0000000000001270

Survival and severity in dominant cerebellar ataxias.
Marie‐Lorraine Monin, Sophie Tezenas du Montcel, Cecilia Marelli, Cecile Cazeneuve, Perrine Charles, Chantal Tallaksen, Sylvie Forlani, Giovanni Stevanin, Alexis Brice, Alexandra Durr
Ann Clin Transl Neurol. 2015-01-07
10.1002/acn3.156

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
Ons Mamaï, Lobna Boussofara, Mohamed Denguezli, Nathalie Escande-Beillard, Wahiba Kraeim, Barry Merriman, Ilhem Ben Charfeddine, Giovanni Stevanin, Sana Bouraoui, Abdelbasset Amara, Amira Mili, Rafiaa Nouira, Dorra H'mida, Badreddine Sriha, Moez Gribaa, Ali Saad, Bruno Reversade
Journal of Investigative Dermatology. 2015-01-01
10.1038/jid.2014.311

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Janel O. Johnson, Giovanni Stevanin, Joyce van de Leemput, Dena G. Hernandez, Sampath Arepalli, Sylvie Forlani, Reza Zonozi, J. Raphael Gibbs, Alexis Brice, Alexandra Durr, Andrew B. Singleton
Mov Disord.. 2014-12-27
10.1002/mds.26059

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
Masato Obayashi, Giovanni Stevanin, Matthis Synofzik, Marie-Lorraine Monin, Charles Duyckaerts, Nozomu Sato, Nathalie Streichenberger, Alain Vighetto, Virginie Desestret, Christelle Tesson, H-Erich Wichmann, Thomas Illig, Johanna Huttenlocher, Yasushi Kita, Yuishin Izumi, Hidehiro Mizusawa, Ludger Schöls, Thomas Klopstock, Alexis Brice, Kinya Ishikawa, Alexandra Dürr
J Neurol Neurosurg Psychiatry. 2014-12-04
10.1136/jnnp-2014-309153

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
Imen Dorboz, Marie Coutelier, Anne T Bertrand, Jean-Hubert Caberg, Monique Elmaleh-Bergès, Jeanne Lainé, Giovanni Stevanin, Gisèle Bonne, Odile Boespflug-Tanguy, Laurent Servais
Orphanet J Rare Dis. 2014-11-26
10.1186/S13023-014-0174-9

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
S. Lattante, S. Millecamps, G. Stevanin, S. Rivaud-Pechoux, C. Moigneu, A. Camuzat, S. Da Barroca, E. Mundwiller, P. Couarch, F. Salachas, D. Hannequin, V. Meininger, F. Pasquier, D. Seilhean, P. Couratier, V. Danel-Brunaud, A.-M. Bonnet, C. Tranchant, E. LeGuern, A. Brice, I. Le Ber, E. Kabashi,
Neurology. 2014-08-06
10.1212/WNL.0000000000000778

ELOVL5 mutations cause spinocerebellar ataxia 38.
Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico A. Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Giulio Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Durr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stevanin, Alfredo Brusco
The American Journal of Human Genetics. 2014-08-01
10.1016/j.ajhg.2014.07.001

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Jérôme Delplanque, David Devos, Vincent Huin, Alexandre Genet, Olivier Sand, Caroline Moreau, Cyril Goizet, Perrine Charles, Mathieu Anheim, Marie Lorraine Monin, Luc Buée, Alain Destée, Guillaume Grolez, Christine Delmaire, Kathy Dujardin, Delphine Dellacherie, Alexis Brice, Giovanni Stevanin, Isabelle Strubi-Vuillaume, Alexandra Dürr, Bernard Sablonnière
Brain. 2014-07-27
10.1093/brain/awu202

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Sophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, Karla P. Figueroa, Yaeko Ichikawa, Alessandro Brussino, Sylvie Forlani, Maria Rakowicz, Ludger Schöls, Caterina Mariotti, Bart P.C. van de Warrenburg, Laura Orsi, Paola Giunti, Alessandro Filla, Sandra Szymanski, Thomas Klockgether, José Berciano, Massimo Pandolfo, Sylvia Boesch, Bela Melegh, Dagmar Timmann, Paola Mandich, Agnès Camuzat, Jun Goto, Tetsuo Ashizawa, Cécile Cazeneuve, Shoji Tsuji, Stefan-M. Pulst, Alfredo Brusco, Olaf Riess, Alexis Brice, Giovanni Stevanin
Brain. 2014-06-26
10.1093/brain/awu174

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Sandro Alves, Florence Cormier-Dequaire, Martina Marinello, Thibaut Marais, Marie-Paule Muriel, Florian Beaumatin, Fanny Charbonnier-Beaupel, Khadija Tahiri, Danielle Seilhean, Khalid El Hachimi, Merle Ruberg, Giovanni Stevanin, Martine Barkats, Wilfred den Dunnen, Muriel Priault, Alexis Brice, Alexandra Durr, Jean-Christophe Corvol, Annie Sittler
Acta Neuropathol. 2014-05-24
10.1007/s00401-014-1289-8

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, Laszlo Baliko, Melegh Bela, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stevanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard
J Med Genet. 2014-04-29
10.1136/jmedgenet-2013-102200

Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Michel Koenig, Giovanni Stevanin, Hamid Azzedine, Mustafa A Salih
Br J Ophthalmol. 2014-02-12
10.1136/bjophthalmol-2013-304527

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Typhaine Esteves, Alexandra Durr, Emeline Mundwiller, José L. Loureiro, Maxime Boutry, Michael A. Gonzalez, Julie Gauthier, Khalid H. El-Hachimi, Christel Depienne, Marie-Paule Muriel, Rafael F. Acosta Lebrigio, Marion Gaussen, Anne Noreau, Fiorella Speziani, Alexandre Dionne-Laporte, Jean-François Deleuze, Patrick Dion, Paula Coutinho, Guy A. Rouleau, Stephan Zuchner, Alexis Brice, Giovanni Stevanin, Frédéric Darios
The American Journal of Human Genetics. 2014-02-01
10.1016/j.ajhg.2013.12.005

GM2 synthase deficiency: a novel complex glycosphingolipid disorder with neurological involvement
Charles M. Lourenco, Giovanni Stevanin, Stephan Zuchner, Wilson Marques
Molecular Genetics and Metabolism. 2014-02-01
10.1016/J.YMGME.2013.12.161

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew D. Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hulya Kayserili, Jumana Y. Al-Aama, Ghada M. H. Abdel-Salam, Ariana Karminejad, Majdi Kara, Bulent Kara, Bita Bozorgmehri, Tawfeg Ben-Omran, Faezeh Mojahedi, Iman Gamal El Din Mahmoud, Naima Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al-Allawi, P.S. Bindu, Matloob Azam, Murat Gunel, Ahmet Caglayan, Kaya Bilguvar, Aslihan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily G. Spencer, Rasim O. Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Durr, Alexis Brice, Giovanni Stevanin, Stacy B. Gabriel, Trey Ideker, Joseph G. Gleeson
Science. 2014-01-31
10.1126/science.1247363

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Matthis Synofzik, Michael A. Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Durr, Ludger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stevanin, Wilson Marques, Stephan Züchner
Brain. 2013-12-18
10.1093/brain/awt326

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice, Ali Benomar, Giovanni Stevanin, Markus Schuelke, Simon Edvardson
J Med Genet. 2013-12-06
10.1136/jmedgenet-2013-102012

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.
A. Matilla-Dueñas, T. Ashizawa, A. Brice, S. Magri, K. N. McFarland, M. Pandolfo, S. M. Pulst, O. Riess, D. C. Rubinsztein, J. Schmidt, T. Schmidt, D. R. Scoles, G. Stevanin, F. Taroni, B. R. Underwood, I. Sánchez
Cerebellum. 2013-12-05
10.1007/s12311-013-0539-y

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations
Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
PLoS ONE. 2013-10-09
10.1371/JOURNAL.PONE.0076831

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Anna Duarri, Esther Nibbeling, Michiel R. Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S. Verbeek
Neurogenetics. 2013-08-21
10.1007/s10048-013-0370-0

The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together
Anna Duarri, Esther Nibbeling, Michiel R. Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S. Verbeek
Neurogenetics. 2013-08-21
10.1007/s10048-013-0370-0

SYNE1 mutations in autosomal recessive cerebellar ataxia.
Anne Noreau, Cynthia V. Bourassa, Anna Szuto, Annie Levert, Sylvia Dobrzeniecka, Julie Gauthier, Sylvie Forlani, Alexandra Durr, Mathieu Anheim, Giovanni Stevanin, Alexis Brice, Jean-Pierre Bouchard, Patrick A. Dion, Nicolas Dupré, Guy A. Rouleau
JAMA Neurol. 2013-08-19
10.1001/jamaneurol.2013.3268

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett,
Human Mutation. 2013-08-12
10.1002/humu.22378

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin
The American Journal of Human Genetics. 2013-07-01
10.1016/j.ajhg.2013.05.006

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, Giovanni Stevanin, Nicola Lo Buono, Helena Krmac, Francesca Maltecca, Elena Gazzano, Anna Bartoletti Stella, Maria Antonietta Calvaruso, Luisa Iommarini, Claudia Cagnoli, Sylvie Forlani, Isabelle Le Ber, Alexandra Durr, Alexis Brice, Dario Ghigo, Giorgio Casari, Anna Maria Porcelli, Ada Funaro, Giuseppe Gasparre, Stefano Gustincich, Alfredo Brusco
BMC Med Genomics. 2013-06-18
10.1186/1755-8794-6-22

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, Maria Vaz Pato, Nuno Pinto, Luca Bartesaghi, Jennifer Zenker, Olivier Poirot, Nathalie Bernard-Marissal, Estelle Arnaud Gouttenoire, Romain Cartoni, Alexandra Title, Giulia Venturini, Jean-Jacques Médard, Edward Makowski, Ludger Schöls, Kristl G. Claeys, Claudia Stendel, Andreas Roos, Joachim Weis, Odile Dubourg, José Leal Loureiro, Giovanni Stevanin, Gérard Said, Anthony Amato, Jay Baraban, Eric LeGuern, Jan Senderek, Carlo Rivolta, Roman Chrast
Human Molecular Genetics. 2013-06-17
10.1093/hmg/ddt274

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Eleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, Alessandra M A Chiotto, Marco Rolando, Ludovica Verdun di Cantogno, Enrico Grosso, Simona Cavalieri, Alessandro Calcia, Daniela Lacerenza, Orsetta Zuffardi, Saverio Francesco Retta, Giovanni Stevanin, Cecilia Marelli, Alexandra Durr, Sylvie Forlani, Jamel Chelly, Francesca Montarolo, Filippo Tempia, Hilary E Beggs, Robin Reed, Stefania Squadrone, Maria C Abete, Alessandro Brussino, Natascia Ventura, Ferdinando Di Cunto, Alfredo Brusco
J Med Genet. 2013-06-07
10.1136/jmedgenet-2013-101542

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, Hector San Nicolás, Carles Roig, Jordi Corral, Berta Campos, Laura de Jorge, Carlos Morcillo-Suárez, Arcadi Navarro, Sylvie Forlani, Alexandra Durr, Jaime Kulisevsky, Alexis Brice, Ivelisse Sánchez, Victor Volpini, Antoni Matilla-Dueñas
JAMA Neurol. 2013-06-01
10.1001/jamaneurol.2013.2311

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
José Leal Loureiro, Eva Brandão, Luis Ruano, Ana F. Brandão, Ana M. Lopes, Carolina Thieleke-Matos, Leonor Miller-Fleming, Vitor T. Cruz, Mafalda Barbosa, Isabel Silveira, Giovanni Stevanin, Jorge Pinto-Basto, Jorge Sequeiros, Isabel Alonso, Paula Coutinho
JAMA Neurol. 2013-04-01
10.1001/jamaneurol.2013.1956

Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Christelle Tesson, Morwena Latouche, Darren P. Baker, Martine Barkats, Khalid H. El Hachimi, Merle Ruberg, Alexandre Janer, Giovanni Stevanin, Alexis Brice, Annie Sittler
Brain. 2013-03-21
10.1093/brain/awt061

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
Justyna Jezierska, Giovanni Stevanin, Hiroyuki Watanabe, Michiel R. Fokkens, Fabien Zagnoli, Jérôme Kok, Jean-Yves Goas, Pierre Bertrand, Christophe Robin, Alexis Brice, Georgy Bakalkin, Alexandra Durr, Dineke S. Verbeek
J Neurol. 2013-03-08
10.1007/s00415-013-6882-6

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L. Loureiro, Michael A. Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner, Ludmila Jornea, Andrés Caballero Oteyza, Alexandra Durr, Jean-Jacques Martin, Ludger Schöls, Chokri Mhiri, Foudil Lamari, Stephan Züchner, Peter De Jonghe, Edor Kabashi, Alexis Brice, Giovanni Stevanin
The American Journal of Human Genetics. 2013-02-01
10.1016/j.ajhg.2012.11.021

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Christelle Tesson, Magdalena Nawara, Mustafa A.M. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christelle M. Durand, Andrés Caballero Oteyza, Khalid H. El-Hachimi, Abdulmajeed Al Drees, Naima Bouslam, Foudil Lamari, Salah A. Elmalik, Mohammad M. Kabiraj, Mohammed Z. Seidahmed, Typhaine Esteves, Marion Gaussen, Marie-Lorraine Monin, Gabor Gyapay, Doris Lechner, Michael Gonzalez, Christel Depienne, Fanny Mochel, Julie Lavie, Ludger Schols, Didier Lacombe, Mohamed Yahyaoui, Ibrahim Al Abdulkareem, Stephan Zuchner, Atsushi Yamashita, Ali Benomar, Cyril Goizet, Alexandra Durr, Joseph G. Gleeson, Frederic Darios, Alexis Brice, Giovanni Stevanin
The American Journal of Human Genetics. 2012-12-01
10.1016/j.ajhg.2012.11.001

Mutations in KCND3 cause spinocerebellar ataxia type 22.
Yi-Chung Lee, Alexandra Durr, Karen Majczenko, Yen-Hua Huang, Yu-Chao Liu, Cheng-Chang Lien, Pei-Chien Tsai, Yaeko Ichikawa, Jun Goto, Marie-Lorraine Monin, Jun Z. Li, Ming-Yi Chung, Emeline Mundwiller, Vikram Shakkottai, Tze-Tze Liu, Christelle Tesson, Yi-Chun Lu, Alexis Brice, Shoji Tsuji, Margit Burmeister, Giovanni Stevanin, Bing-Wen Soong
Ann Neurol.. 2012-12-01
10.1002/ana.23701

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish.
Elodie Martin, Constantin Yanicostas, Agnès Rastetter, Seyedeh Maryam Alavi Naini, Alissia Maouedj, Edor Kabashi, Sophie Rivaud-Péchoux, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
Neurobiology of Disease. 2012-12-01
10.1016/j.nbd.2012.07.003

Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons
Constantin Yanicostas, Elisa Barbieri, Masahiko Hibi, Alexis Brice, Giovanni Stevanin, Nadia Soussi-Yanicostas
PLoS ONE. 2012-11-30
10.1371/JOURNAL.PONE.0050705

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Sole, Alain Destée, Jean-Michel Mayer, Bertrand Fontaine, Jérôme de Seze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stevanin, Josseline Kaplan, Jean-Michel Rozet, Alexis Brice, Alexandra Durr
Brain. 2012-10-01
10.1093/brain/aws240

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
K. E. Hekman, G.-Y. Yu, C. D. Brown, H. Zhu, X. Du, K. Gervin, D. E. Undlien, A. Peterson, G. Stevanin, H. B. Clark, S. M. Pulst, T. D. Bird, K. P. White, C. M. Gomez
Human Molecular Genetics. 2012-09-21
10.1093/hmg/dds392

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
N. Collongues, C. Depienne, N. Boehm, A. Echaniz-Laguna, B. Samama, A. Dürr, G. Stevanin, E. Leguern, A. Brice, P. Labauge, J. de Seze
Eur J Neurol. 2012-07-12
10.1111/j.1468-1331.2012.03803.x

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin
Journal of the Neurological Sciences. 2012-07-01
10.1016/j.jns.2012.03.025

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.
Sandra Martins, Bing-Wen Soong, Virginia C. N. Wong, Paola Giunti, Giovanni Stevanin, Laura P. W. Ranum, Hidenao Sasaki, Olaf Riess, Shoji Tsuji, Paula Coutinho, António Amorim, Jorge Sequeiros, Garth A. Nicholson
Arch Neurol. 2012-06-01
10.1001/archneurol.2011.2504

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Claudia Dufke, Nina Schlipf, Rebecca Schüle, Michael Bonin, Michaela Auer-Grumbach, Giovanni Stevanin, Christel Depienne, Jan Kassubek, Stephan Klebe, Sven Klimpe, Thomas Klopstock, Susanne Otto, Sven Poths, Andrea Seibel, Henning Stolze, Andreas Gal, Ludger Schöls, Peter Bauer
Neurogenetics. 2012-05-03
10.1007/s10048-012-0329-6

RAD51 haploinsufficiency causes congenital mirror movements in humans.
Christel Depienne, Delphine Bouteiller, Aurélie Méneret, Ségolène Billot, Sergiu Groppa, Stephan Klebe, Fanny Charbonnier-Beaupel, Jean-Christophe Corvol, Jean-Paul Saraiva, Norbert Brueggemann, Kailash Bhatia, Massimo Cincotta, Vanessa Brochard, Constance Flamand-Roze, Wassila Carpentier, Sabine Meunier, Yannick Marie, Marion Gaussen, Giovanni Stevanin, Rosine Wehrle, Marie Vidailhet, Christine Klein, Isabelle Dusart, Alexis Brice, Emmanuel Roze
The American Journal of Human Genetics. 2012-02-01
10.1016/j.ajhg.2011.12.002

Autosomal dominant cerebellar ataxias,Les ataxies cérébelleuses autosomiques dominantes
C. Goizet, M. Anheim, G. Stevanin
Pratique Neurologique - FMC. 2012-02-01
10.1016/j.praneu.2011.12.001

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cecilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer, Agnès Rastetter, Elodie Martin, Delphine Bouteiller, Laurent Orlando, Gabor Gyapay, Khalid H El-Hachimi, Batel Zimmerman, Moriya Gamliel, Adel Misk, Israela Lerer, Alexis Brice, Alexandra Durr, Giovanni Stevanin
Eur J Hum Genet. 2012-01-18
10.1038/ejhg.2011.261

Spinocerebellar ataxia 13 and 25.
Giovanni Stevanin, Alexandra Dürr
Handbook of Clinical Neurology. 2012-01-01
10.1016/B978-0-444-51892-7.00035-8

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.
K. Ishikawa, A. Durr, T. Klopstock, S. Muller, B. De Toffol, M. Vidailhet, A. Vighetto, C. Marelli, H.- E. Wichmann, T. Illig, Y. Niimi, N. Sato, T. Amino, G. Stevanin, A. Brice, H. Mizusawa
Neurology. 2011-11-02
10.1212/WNL.0b013e3182377e3a

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean-François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon-Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric Leguern, Didier Lacombe, Alexandra Durr, Rodrigue Rossignol, Alexis Brice, Giovanni Stevanin
Hum. Mutat.. 2011-09-09
10.1002/humu.21542

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
Reena Prity Murmu, Elodie Martin, Agnès Rastetter, Typhaine Esteves, Marie-Paule Muriel, Khalid Hamid El Hachimi, Paola Silvia Denora, Aurélien Dauphin, José Carlos Fernandez, Charles Duyckaerts, Alexis Brice, Frédéric Darios, Giovanni Stevanin
Molecular and Cellular Neuroscience. 2011-07-01
10.1016/j.mcn.2011.04.004

Autosomal dominant cerebellar ataxias.
C. Marelli, C. Cazeneuve, A. Brice, G. Stevanin, A. Dürr
Revue Neurologique. 2011-05-01
10.1016/j.neurol.2011.01.015

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Cecilia Marelli, Joyce van de Leemput, Janel O. Johnson, Francois Tison, Christel Thauvin-Robinet, Fabienne Picard, Christine Tranchant, Dena G. Hernandez, Bernard Huttin, Jacques Boulliat, Iban Sangla, Christian Marescaux, Serge Brique, Hélène Dollfus, Sampath Arepalli, Isabelle Benatru, Elisabeth Ollagnon, Sylvie Forlani, John Hardy, Giovanni Stevanin, Alexandra Dürr, Andrew Singleton, Alexis Brice
Arch Neurol. 2011-05-01
10.1001/archneurol.2011.81

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Salima Assami, Hamid Azzedine, Sonia Nouioua, Emeline Mundwiller, Soulaiman Mahoui, Samira Makri, Meriam Djemai, Djamel Grid, Alexis Brice, Tarik Hamadouche, Giovanni Stevanin, Meriem Tazir
Mov. Disord.. 2011-03-25
10.1002/mds.23648

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
J. Koht, G. Stevanin, A. Durr, E. Mundwiller, A. Brice, C. M. E. Tallaksen
Acta Neurologica Scandinavica. 2011-03-21
10.1111/j.1600-0404.2011.01504.x

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Bernard Puech, Arnaud Lacour, Giovanni Stevanin, Bruno G. Sautiere, David Devos, Christel Depienne, Elodie Denis, Emeline Mundwiller, Didier Ferriby, Patrick Vermersch, Sabine Defoort-Dhellemmes
Ophthalmology. 2011-03-01
10.1016/j.ophtha.2010.07.024

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
Mike Cleeter, Henry Houlden, Paul Simons, Raya Al-Shawi, Giovanni Stevanin, Alexandra Durr, Justin Hsuan, Thomas T. Warner
Amyotrophic Lateral Sclerosis. 2010-12-30
10.3109/17482968.2010.543689

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
Sascha Vermeer, Alexander Hoischen, Rowdy P.P. Meijer, Christian Gilissen, Kornelia Neveling, Nienke Wieskamp, Arjan de Brouwer, Michel Koenig, Mathieu Anheim, Mirna Assoum, Nathalie Drouot, Slobodanka Todorovic, Vedrana Milic-Rasic, Hanns Lochmüller, Giovanni Stevanin, Cyril Goizet, Albert David, Alexandra Durr, Alexis Brice, Berry Kremer, Bart P.C. van de Warrenburg, Mascha M.V.A.P. Schijvenaars, Angelien Heister, Michael Kwint, Peer Arts, Jenny van der Wijst, Joris Veltman, Erik-Jan Kamsteeg, Hans Scheffer, Nine Knoers
The American Journal of Human Genetics. 2010-12-01
10.1016/j.ajhg.2010.10.015

Heterozygous OPA1 mutations in Behr syndrome.
C. Marelli, P. Amati-Bonneau, P. Reynier, V. Layet, A. Layet, G. Stevanin, E. Brissaud, D. Bonneau, A. Durr, A. Brice
Brain. 2010-11-26
10.1093/brain/awq306

Hereditary spastic paraplegia,Les paraparésies spastiques héréditaires
P. Charles, C. Depienne, G. Stevanin, A. Brice, A. Dürr
Pratique Neurologique - FMC. 2010-10-01
10.1016/j.praneu.2010.07.001

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribai, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr, Alfredo Brusco
Hum. Mutat.. 2010-09-07
10.1002/humu.21342

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
P. Bauer, G. Stevanin, C. Beetz, M. Synofzik, T. Schmitz-Hubsch, U. Wullner, E. Berthier, E. Ollagnon-Roman, O. Riess, S. Forlani, E. Mundwiller, A. Durr, L. Schols, A. Brice
Journal of Neurology, Neurosurgery & Psychiatry. 2010-07-28
10.1136/jnnp.2009.202150

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
Amir Boukhris, Imed Feki, Nizar Elleuch, Mohamed Imed Miladi, Anne Boland-Augé, Jérémy Truchetto, Emeline Mundwiller, Nadia Jezequel, Diana Zelenika, Chokri Mhiri, Alexis Brice, Giovanni Stevanin
Neurogenetics. 2010-07-01
10.1007/s10048-010-0249-2

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia
Mikołaj Słabicki, Mirko Theis, Dragomir B. Krastev, Sergey Samsonov, Emeline Mundwiller, Magno Junqueira, Maciej Paszkowski-Rogacz, Joan Teyra, Anne-Kristin Heninger, Ina Poser, Fabienne Prieur, Jérémy Truchetto, Christian Confavreux, Cécilia Marelli, Alexandra Durr, Jean Philippe Camdessanche, Alexis Brice, Andrej Shevchenko, M. Teresa Pisabarro, Giovanni Stevanin, Frank Buchholz
PLoS Biol. 2010-06-29
10.1371/JOURNAL.PBIO.1000408

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
C. Depienne, E. Magnin, D. Bouteiller, G. Stevanin, C. Saint-Martin, M. Vidailhet, E. Apartis, E. Hirsch, E. LeGuern, P. Labauge, L. Rumbach
Neurology. 2010-06-14
10.1212/WNL.0b013e3181e396a8

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Nina A Schlipf, Christian Beetz, Rebecca Schüle, Giovanni Stevanin, Anne Kjersti Erichsen, Sylvie Forlani, Cécile Zaros, Kathrin Karle, Stephan Klebe, Sven Klimpe, Alexandra Durr, Susanne Otto, Chantal M E Tallaksen, Olaf Riess, Alexis Brice, Peter Bauer, Ludger Schöls
Eur J Hum Genet. 2010-05-12
10.1038/ejhg.2010.68

LINGO1 polymorphisms are associated with essential tremor in Europeans.
Sandra Thier, Delia Lorenz, Michael Nothnagel, Giovanni Stevanin, Alexandra Dürr, Almut Nebel, Stefan Schreiber, Gregor Kuhlenbäumer, Günther Deuschl, Stephan Klebe
Mov. Disord.. 2010-03-22
10.1002/mds.22887

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr, Diane M. Papazian, Stefan M. Pulst
Hum. Mutat.. 2010-02-01
10.1002/humu.21165

Identification of a de novo mutation in SPG11.
Paola S. Denora, Knut Brockmann, Marianna Ciccolella, Jeremy Truchetto, Giovanni Stevanin, Filippo M. Santorelli
Mov. Disord.. 2010-01-27
10.1002/mds.22964

SCA5
G. Stevanin, A. Durr
Encyclopedia of Movement Disorders. 2010-01-01
10.1016/B978-0-12-374105-9.00207-0

SCA7, Spinocerebellar Ataxia with Macular Dystrophy
G. Stevanin, A. Sittler, A. Brice
Encyclopedia of Movement Disorders. 2010-01-01
10.1016/B978-0-12-374105-9.00209-4

PO19-WE-05 Linkage analysis and mutation screening in PANK2 and PLA2G6 genes in 7 consanguineous Saudi Arabian families with Karak syndrome
H. Azzedine, M.A.M. Salih, A. Khan, E. Mundwiller, A. Aldriss, S.A. Elmalik, M.M. Kabiraj, G. Stevanin
Journal of the Neurological Sciences. 2009-10-01
10.1016/S0022-510X(09)71012-3

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, MI Miladi, C Goizet, J Truchetto, S Belal, A Brice, C Mhiri
Clinical Genetics. 2009-06-01
10.1111/j.1399-0004.2009.01176.x

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
C. Goizet, A. Boukhris, A. Durr, C. Beetz, J. Truchetto, C. Tesson, M. Tsaousidou, S. Forlani, L. Guyant-Marechal, B. Fontaine, J. Guimaraes, B. Isidor, O. Chazouilleres, D. Wendum, D. Grid, F. Chevy, P. F. Chinnery, P. Coutinho, J.-P. Azulay, I. Feki, F. Mochel, C. Wolf, C. Mhiri, A. Crosby, A. Brice, G. Stevanin
Brain. 2009-05-12
10.1093/brain/awp073

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko, Maja Di Rocco, Clarissa Bueno, Alessandro Malandrini, Roberta Battini, Elisabeth Sickl, Maria Fulvia de Leva, Odile Boespflug-Tanguy, Gabriella Silvestri, Alessandro Simonati, Edith Said, Andreas Ferbert, Chiara Criscuolo, Karl Heinimann, Anna Modoni, Peter Weber, Silvia Palmeri, Martina Plasilova, Flavia Pauri, Denise Cassandrini, Carla Battisti, Antonella Pini, Michela Tosetti, Erwin Hauser, Marcella Masciullo, Roberto Di Fabio, Francesca Piccolo, Elodie Denis, Giovanni Cioni, Roberto Massa, Elvio Della Giustina, Olga Calabrese, Marina A.B. Melone, Giuseppe De Michele, Antonio Federico, Enrico Bertini, Alexandra Durr, Knut Brockmann, Marjo S. van der Knaap, Mayana Zatz, Alessandro Filla, Alexis Brice, Giovanni Stevanin, Filippo M. Santorelli
Hum. Mutat.. 2009-03-01
10.1002/humu.20945

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, V��ronique Paquis, Christel Depienne, Alexandra Durr, Giovanni Stevanin, Alexis Brice
Hum. Mutat.. 2009-02-01
10.1002/humu.20920

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Paola S. Denora, Maria Muglia, Carlo Casali, Jérémy Truchetto, Gabriella Silvestri, Demetrio Messina, Amir Boukrhis, Angela Magariello, Anna Modoni, Marcella Masciullo, Alessandro Malandrini, Maurizio Morelli, Maria Fulvia de Leva, Marcello Villanova, Elisabetta Giugni, Luigi Citrigno, Teresa Rizza, Antonio Federico, Alberto Pierallini, Aldo Quattrone, Alessandro Filla, Alexis Brice, Giovanni Stevanin, Filippo M. Santorelli
Journal of the Neurological Sciences. 2009-02-01
10.1016/j.jns.2008.09.039

Distinct Functional Effects of Kv3.3 Mutations Associated with Spinocerebellar Ataxia Type 13
Natali A. Minassian, Meng-chin Lin, Karla P. Figueroa, Allan F. Mock, Giovanni Stevanin, Michael F. Waters, Stefan M. Pulst, Diane M. Papazian
Biophysical Journal. 2009-02-01
10.1016/J.BPJ.2008.12.1652

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
Mathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, Marie Fleury, Alexandra Durr, Izzie Jacques Namer, Paola Denora, Alexis Brice, Jean Louis Mandel, Michel Koenig, Christine Tranchant
J Neurol. 2009-01-01
10.1007/s00415-009-0083-3

SPG11 spastic paraplegia
Mathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, Marie Fleury, Alexandra Durr, Izzie Jacques Namer, Paola Denora, Alexis Brice, Jean Louis Mandel, Michel Koenig, Christine Tranchant
J Neurol. 2009-01-01
10.1007/S00415-009-0083-3

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
Delia Lorenz, Stephan Klebe, Giovanni Stevanin, Sandra Thier, Almut Nebel, Josué Feingold, Henrik Frederiksen, Elodie Denis, Kaare Christensen, Stefan Schreiber, Alexis Brice, Günther Deuschl, Alexandra Dürr
Eur J Hum Genet. 2008-12-17
10.1038/ejhg.2008.243

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Alessandra Terracciano, Carlo Casali, Gaetano S. Grieco, Daniela Orteschi, Silvia Di Giandomenico, Laura Seminara, Roberto Di Fabio, Rosalba Carrozzo, Alessandro Simonati, Giovanni Stevanin, Marcella Zollino, Filippo M. Santorelli
Neurogenetics. 2008-11-20
10.1007/s10048-008-0159-8

Recent advances in the genetics of spastic paraplegias.
Giovanni Stevanin, Merle Ruberg, Alexis Brice
Curr Neurol Neurosci Rep. 2008-05-01
10.1007/s11910-008-0032-z

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes.
E. Panza, T. Pippucci, R. Cusano, C. Lo Nigro, L. Pradella, S. Contardi, G. A. Rouleau, G. Stevanin, R. Ravazzolo, R. Liguori, P. Montagna, G. Romeo, M. Seri
Eur J Neurol. 2008-05-01
10.1111/j.1468-1331.2008.02117.x

SPG11 - the most common type of recessive spastic paraplegia in Norway?
A. K. Erichsen, G. Stevanin, P. Denora, A. Brice, C. M. E. Tallaksen
Acta Neurol Scand. 2008-05-01
10.1111/J.1600-0404.2008.01031.X

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin
The American Journal of Human Genetics. 2008-04-01
10.1016/j.ajhg.2008.03.004

Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
Giovanni Stevanin, Alexis Brice
Cerebellum. 2008-03-26
10.1007/S12311-008-0016-1

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
Amir Boukhris, Giovanni Stevanin, Imed Feki, Elodie Denis, Nizar Elleuch, Mohamed Imed Miladi, Jérémy Truchetto, Paola Denora, Samir Belal, Chokri Mhiri, Alexis Brice
Arch Neurol. 2008-03-01
10.1001/archneur.65.3.393

Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
Amir Boukhris, Imed Feki, Elodie Denis, Mohamed Imed Miladi, Alexis Brice, Chokri Mhiri, Giovanni Stevanin
Mov Disord.. 2008-01-01
10.1002/mds.21848

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria, José Loureiro, Masayoshi Tada, Didier Hannequin, Mathieu Anheim, Cyril Goizet, Victoria Gonzalez-Martinez, Isabelle Le Ber, Sylvie Forlani, Kiyoshi Iwabuchi, Vardiela Meiner, Goekhan Uyanik, Anne Kjersti Erichsen, Imed Feki, Florence Pasquier, Soreya Belarbi, Vitor T. Cruz, Christel Depienne, Jeremy Truchetto, Guillaume Garrigues, Chantal Tallaksen, Christine Tranchant, Masatoyo Nishizawa, José Vale, Paula Coutinho, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Alexandra Durr
Brain. 2007-12-13
10.1093/brain/awm293

Hereditary spastic paraplegias: an update.
Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Durr
Current Opinion in Neurology. 2007-12-01
10.1097/WCO.0b013e3282f190ba

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.
Cécile Saint-Martin, Delphine Bouteiller, Giovanni Stevanin, Cyprian Popescu, Céline Charon, Merle Ruberg, Stéphanie Baulac, Eric LeGuern, Pierre Labauge, Christel Depienne
Neurogenetics. 2007-11-09
10.1007/s10048-007-0107-z

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.
Sandra Martins, Francesc Calafell, Claudia Gaspar, Virginia C. N. Wong, Isabel Silveira, Garth A. Nicholson, Ewout R. Brunt, Lisbeth Tranebjaerg, Giovanni Stevanin, Mingli Hsieh, Bing-wen Soong, Leal Loureiro, Alexandra Dürr, Shoji Tsuji, Mitsunori Watanabe, Laura B. Jardim, Paola Giunti, Olaf Riess, Laura P. W. Ranum, Alexis Brice, Guy A. Rouleau, Paula Coutinho, António Amorim, Jorge Sequeiros
Arch Neurol. 2007-10-01
10.1001/archneur.64.10.1502

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Roberto Del Bo, Alessio Di Fonzo, Serena Ghezzi, Federica Locatelli, Giovanni Stevanin, Antonella Costa, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi
Neurogenetics. 2007-08-24
10.1007/s10048-007-0095-z

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Nizar Elleuch, Naima Bouslam, Sylvain Hanein, Alexander Lossos, Abdelmadjid Hamri, Stephan Klebe, Vardiella Meiner, Nezha Birouk, Israela Lerer, Djamel Grid, Delphine Bacq, Meriem Tazir, Diana Zelenika, Zohar Argov, Alexandra Durr, Mohamed Yahyaoui, Ali Benomar, Alexis Brice, Giovanni Stevanin
Neurogenetics. 2007-07-28
10.1007/s10048-007-0097-x

A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
Sylvain Hanein, Alexandra Dürr, Pascale Ribai, Sylvie Forlani, Anne-Louise Leutenegger, Isabelle Nelson, Marie-Claude Babron, Nizar Elleuch, Christel Depienne, Céline Charon, Alexis Brice, Giovanni Stevanin
Hum Genet. 2007-06-28
10.1007/s00439-007-0396-1

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Christel Depienne, Estelle Fedirko, Jean-Marc Faucheux, Sylvie Forlani, Bernard Bricka, Cyril Goizet, Sylvie Lesourd, Giovanni Stevanin, Merle Ruberg, Alexandra Durr, Alexis Brice
Neurogenetics. 2007-06-28
10.1007/s10048-007-0090-4

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
P. Charles, A. Camuzat, N. Benammar, F. Sellal, A. Destée, A-M Bonnet, S. Lesage, I. Le Ber, G. Stevanin, A. Dürr, A. Brice,
Neurology. 2007-06-13
10.1212/01.wnl.0000269323.21969.db

Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
Stephan Klebe, Laurence Faivre, Sylvie Forlani, Christel Dussert, Ayman Tourbah, Alexis Brice, Giovanni Stevanin, Alexandra Durr
Arch Neurol. 2007-06-01
10.1001/archneur.64.6.913

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.
G. Stevanin, C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis, V. T. Cruz, A. Durr, J.-F Prud'homme, J. Weissenbach, A. Brice, J. Hazan
Neurology. 2007-05-21
10.1212/01.wnl.0000262043.53386.22

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Stephan Klebe, Alexandra Durr, Naima Bouslam, Djamel Grid, Caroline Paternotte, Christel Depienne, Sylvain Hanein, Ahmed Bouhouche, Nizar Elleuch, Hamid Azzedine, Sandrine Poea‐Guyon, Sylvie Forlani, Elodie Denis, Céline Charon, Jamile Hazan, Alexis Brice, Giovanni Stevanin
Am. J. Med. Genet.. 2007-05-14
10.1002/ajmg.b.30518

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
C. Depienne, E. Fedirko, S. Forlani, C. Cazeneuve, P. Ribai, I. Feki, C. Tallaksen, K. Nguyen, B. Stankoff, M. Ruberg, G. Stevanin, A. Durr, A. Brice
Journal of Medical Genetics. 2007-04-01
10.1136/jmg.2006.046425

[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]
I. Feki, M.I. Miladi, N. Elleuch, A. Boukhris, G. Stévanin, A. Brice, C. Mhiri
Revue Neurologique. 2007-04-01
10.1016/S0035-3787(07)90424-5

Familial spastic paraplegia with severe amyotrophy of the hands (Silver's syndrome?)
I. Feki, M.I. Miladi, N. Elleuch, A. Boukhris, G. Stévanin, A. Brice, C. Mhiri
Revue Neurologique. 2007-04-01
10.1016/S0035-3787(07)90424-5

A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.
M. Latouche, C. Lasbleiz, E. Martin, V. Monnier, T. Debeir, A. Mouatt-Prigent, M.-P. Muriel, L. Morel, M. Ruberg, A. Brice, G. Stevanin, H. Tricoire
Journal of Neuroscience. 2007-03-07
10.1523/JNEUROSCI.5453-06.2007

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam, Alexander Lossos, Perrine Charles, José L Loureiro, Nizar Elleuch, Christian Confavreux, Vítor T Cruz, Merle Ruberg, Eric Leguern, Djamel Grid, Meriem Tazir, Bertrand Fontaine, Alessandro Filla, Enrico Bertini, Alexandra Durr, Alexis Brice
Nat Genet. 2007-02-18
10.1038/ng1980

A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Naima Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Stephan Klebe, Hamid Azzedine, Silvia Di Giandomenico, Anne Boland-Augé, Filippo M. Santorelli, Alexandra Durr, Alexis Brice, Mohamed Yahyaoui, Giovanni Stevanin
Hum Genet. 2007-02-02
10.1007/s00439-007-0328-0

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
Stephan Klebe, Arnaud Lacour, Alexandra Durr, Tanya Stojkovic, Christel Depienne, Sylvie Forlani, Sandrine Poea-Guyon, Isabelle Vuillaume, Bernard Sablonniere, Patrick Vermersch, Alexis Brice, Giovanni Stevanin
Neurogenetics. 2007-01-05
10.1007/s10048-006-0074-9

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Claudia Cagnoli, Alessandro Brussino, Eleonora Di Gregorio, Alfredo Brusco, Giovanni Stevanin, Alexandra Durr, Alexis Brice
Mov Disord.. 2007-01-01
10.1002/mds.21389

Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions
Giovanni Stevanin, Alexandra Durr, Alexis Brice
Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias. 2007-01-01
10.1016/S1877-184X(09)70078-4

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
I. Le Ber, F. Clot, L. Vercueil, A. Camuzat, M. Viemont, N. Benamar, P. De Liege, A. M. Ouvrard-Hernandez, P. Pollak, G. Stevanin, A. Brice, A. Durr
Neurology. 2006-11-27
10.1212/01.wnl.0000244484.60489.50

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
Giovanni Stevanin, Giorgia Montagna, Hamid Azzedine, Enza Maria Valente, Alexandra Durr, Valentina Scarano, Naima Bouslam, Denise Cassandrini, Paola S. Denora, Chiara Criscuolo, Soraya Belarbi, Antonio Orlacchio, Philippe Jonveaux, Gabriella Silvestri, Anne Marie Ouvrad Hernandez, Giuseppe De Michele, Meriem Tazir, Caterina Mariotti, Knut Brockmann, Alessandro Malandrini, Marjo S. van der Knapp, Marcella Neri, Hassan Tonekaboni, Mariarosa A. B. Melone, Alessandra Tessa, M. Teresa Dotti, Michela Tosetti, Flavia Pauri, Antonio Federico, Carlo Casali, Vitor T. Cruz, José L. Loureiro, Federico Zara, Sylvie Forlani, Enrico Bertini, Paula Coutinho, Alessandro Filla, Alexis Brice, Filippo M. Santorelli
Neurogenetics. 2006-05-13
10.1007/s10048-006-0044-2

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Alexander Lossos, Giovanni Stevanin, Vardiella Meiner, Zohar Argov, Naima Bouslam, J. P. Newman, John M. Gomori, Stephan Klebe, Israela Lerer, Nizar Elleuch, Shira Silverstein, Alexandra Durr, Oded Abramsky, Ziva Ben-Nariah, Alexis Brice
Arch Neurol. 2006-05-01
10.1001/archneur.63.5.756

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
S. Klebe
Brain. 2006-04-13
10.1093/brain/awl012

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Michito Namekawa, Isabelle Nelson, Pascale Ribai, Alexandra Dürr, Elodie Denis, Giovanni Stevanin, Merle Ruberg, Alexis Brice
Neurogenetics. 2006-04-13
10.1007/s10048-006-0028-2

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
N. Elleuch, C. Depienne, A. Benomar, A. M. O. Hernandez, X. Ferrer, B. Fontaine, D. Grid, C.M.E. Tallaksen, R. Zemmouri, G. Stevanin, A. Durr, A. Brice
Neurology. 2006-03-13
10.1212/01.wnl.0000201185.91110.15

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
P. Ribai, G. Stevanin, N. Bouslam, B. Pontier, I. Nelson, B. Fontaine, Ch. Dussert, C. Charon, A. Durr, A. Brice
J Neurol. 2006-03-06
10.1007/s00415-006-0094-2

A new phenotype linked to SPG27 and refinement of the critical region on chromosome 10
P. Ribai, G. Stevanin, N. Bouslam, B. Pontier, I. Nelson, B. Fontaine, Ch. Dussert, C. Charon, A. Durr, A. Brice
J Neurol. 2006-03-06
10.1007/s00415-006-0094-2

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.
Morwena Latouche, Pascal Fragner, Elodie Martin, Khalid H. El Hachimi, Cecilia Zander, Annie Sittler, Merle Ruberg, Alexis Brice, Giovanni Stevanin
Molecular and Cellular Neuroscience. 2006-03-01
10.1016/j.mcn.2005.10.013

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Michael F Waters, Natali A Minassian, Giovanni Stevanin, Karla P Figueroa, John P A Bannister, Dagmar Nolte, Allan F Mock, Virgilio Gerald H Evidente, Dominic B Fee, Ulrich Müller, Alexandra Dürr, Alexis Brice, Diane M Papazian, Stefan M Pulst
Nat Genet. 2006-02-26
10.1038/ng1758

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.
Claudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, Giovanni Gerbino Promis, Alessandro Brussino, Patrizia Pappi, Alexandra Durr, Elisa Dragone, Michelle Viemont, Cinzia Gellera, Alexis Brice, Nicola Migone, Alfredo Brusco
The Journal of Molecular Diagnostics. 2006-02-01
10.2353/jmoldx.2006.050043

Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk, H Brent Clark, Alexis Brice, Jeffrey D Rothstein, Lawrence J Schut, John W Day, Laura P W Ranum
Nat Genet. 2006-01-22
10.1038/ng1728

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
M. Namekawa, P. Ribai, I. Nelson, S. Forlani, F. Fellmann, C. Goizet, C. Depienne, G. Stevanin, M. Ruberg, A. Durr, A. Brice
Neurology. 2006-01-09
10.1212/01.wnl.0000191390.20564.8e

Spinocerebellar Ataxia 17 and Huntington's Disease-like 4
GIOVANNI STEVANIN, ALEXIS BRICE
Genetic Instabilities and Neurological Diseases. 2006-01-01
10.1016/B978-012369462-1/50033-8

Spinocerebellar ataxia with mental retardation (SCA13).
Giovanni Stevanin, Alexandra Durr, Nawal Benammar, Alexis Brice
MCER. 2005-04-01
10.1080/14734220510007923

Spinocerebellar ataxia with sensory neuropathy (SCA25).
Giovanni Stevanin, Emmanuel Broussolle, Nathalie Streichenberger, Nicolas Kopp, Alexis Brice, Alexandra Durr
MCER. 2005-04-01
10.1080/14734220510007932

Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.
Bart P. C. van de Warrenburg, Harrie Hendriks, Alexandra Dürr, Martin C. A. van Zuijlen, Giovanni Stevanin, Agnès Camuzat, Richard J. Sinke, Alexis Brice, Berry P. H. Kremer
Ann Neurol.. 2005-03-03
10.1002/ana.20424

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis, Christel Dussert, Yves Agid, Peter Bauer, Christoph Globas, Ullrich Wüllner, Alexis Brice, Olaf Riess, Giovanni Stevanin
Ann Neurol.. 2005-01-01
10.1002/ana.20628

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Naima Bouslam, Ali Benomar, Hamid Azzedine, Ahmed Bouhouche, Michito Namekawa, Stephan Klebe, C�line Charon, Alexandra Durr, Merle Ruberg, Alexis Brice, Mohamed Yahyaoui, Giovanni Stevanin
Ann Neurol.. 2005-01-01
10.1002/ana.20416

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Alexandra Dürr, Agnès Camuzat, Emilie Colin, Chantal Tallaksen, Didier Hannequin, Paula Coutinho, Bertrand Fontaine, Annick Rossi, Roger Gil, Christophe Rousselle, Merle Ruberg, Giovanni Stevanin, Alexis Brice
Arch Neurol. 2004-12-01
10.1001/archneur.61.12.1867

Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians.
G. Stevanin, A. Durr, C. Dussert, C. Penet, A. Brice
Neurology. 2004-09-13
10.1212/01.WNL.0000137020.30604.1E

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
Giovanni Stevanin, Valérie Hahn, Ebba Lohmann, Naima Bouslam, Michel Gouttard, Caroline Soumphonphakdy, Marie-Laure Welter, Elisabeth Ollagnon-Roman, Arnaud Lemainque, Merle Ruberg, Alexis Brice, Alexandra Durr
Arch Neurol. 2004-08-01
10.1001/archneur.61.8.1242

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls, Massimo Pandolfo, Jörg B Schulz, Jean Pouget, Patrick Calvas, Masami Shizuka-Ikeda, Mikio Shoji, Makoto Tanaka, Louise Izatt, Christopher E Shaw, Abderrahim M'Zahem, Eimear Dunne, Pascale Bomont, Traki Benhassine, Naïma Bouslam, Giovanni Stevanin, Alexis Brice, João Guimarães, Pedro Mendonça, Clara Barbot, Paula Coutinho, Jorge Sequeiros, Alexandra Dürr, Jean-Marie Warter, Michel Koenig
Nat Genet. 2004-02-08
10.1038/ng1303

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
I. Le Ber
Brain. 2004-01-14
10.1093/brain/awh080

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
Giovanni Stevanin, Naima Bouslam, Stéphane Thobois, Hamid Azzedine, Lucas Ravaux, Anne Boland, Martin Schalling, Emmanuel Broussolle, Alexandra Dürr, Alexis Brice
Ann Neurol.. 2003-12-30
10.1002/ana.10798

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Neurobiology of Disease. 2003-08-01
10.1016/S0969-9961(03)00080-9

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
Junko Takahashi, Hiroto Fujigasaki, Kiyoshi Iwabuchi, Amalia C Bruni, Toshiki Uchihara, Khalid H El Hachimi, Giovanni Stevanin, Alexandra Dürr, Anne-Sophie Lebre, Yvon Trottier, Hugues de Thé, Junichi Tanaka, Jean-Jacques Hauw, Charles Duyckaerts, Alexis Brice
Neurobiology of Disease. 2003-08-01
10.1016/S0969-9961(03)00080-9

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
G. Stevanin
Brain. 2003-04-22
10.1093/brain/awg155

Spinocerebellar Ataxia 13, 14, and 16
Hiroto Fujigasaki, Giovanni Stevanin, Alexandra Dürr, Alexis Brice
Genetics of Movement Disorders. 2003-01-01
10.1016/B978-012566652-7/50016-2

Spinocerebellar Ataxia 7 (SCA7)
Anne-Sophie Lebre, Giovanni Stevanin, Alexis Brice
Genetics of Movement Disorders. 2003-01-01
10.1016/B978-012566652-7/50011-3

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
J. Takahashi
Brain. 2002-07-01
10.1093/brain/awf154

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype.
Tomas S. Aleman, Artur V. Cideciyan, Nicholas J. Volpe, Giovanni Stevanin, Alexis Brice, Samuel G. Jacobson
Experimental Eye Research. 2002-06-01
10.1006/exer.2002.1169

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.
G. Stevanin, A. Camuzat, S. E. Holmes, C. Julien, R. Sahloul, C. Dode, V. Hahn-Barma, C. A. Ross, R. L. Margolis, A. Durr, A. Brice
Neurology. 2002-03-26
10.1212/WNL.58.6.965

Spinocerebellar ataxia type 10 in the French population.
Hiroto Fujigasaki, Sandrine Tardieu, Agnès Camuzat, Giovanni Stevanin, Eric LeGuern, Tohru Matsuura, Tetsuo Ashizawa, Alexandra Dürr, Alexis Brice
Ann Neurol.. 2002-02-27
10.1002/ana.10126

Spinocerebellar ataxias caused by polyglutamine expansions
Giovanni Stevanin, Alexandra Dürr, Alexis Brice
Triple Repeat Diseases of the Nervous Systems. 2002-01-01
10.1007/978-1-4615-0117-6_3

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
Susan E. Holmes, Elizabeth O'Hearn, Adam Rosenblatt, Colleen Callahan, Hyon S. Hwang, Roxann G. Ingersoll-Ashworth, Adam Fleisher, Giovanni Stevanin, Alexis Brice, Nicholas T. Potter, Christopher A. Ross, Russell L. Margolis
Nat Genet. 2001-11-05
10.1038/ng760

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.
H. Fujigasaki
Brain. 2001-10-01
10.1093/brain/124.10.1939

Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3.
C. Zander
Human Molecular Genetics. 2001-10-01
10.1093/hmg/10.22.2569

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.
C. Gaspar, I. Lopes-Cendes, S. Hayes, J. Goto, K. Arvidsson, A. Dias, I. Silveira, P. Maciel, P. Coutinho, M. Lima, Y.-X. Zhou, B.-W. Soong, M. Watanabe, P. Giunti, G. Stevanin, O. Riess, H. Sasaki, M. Hsieh, G.A. Nicholson, E. Brunt, J.J. Higgins, M. Lauritzen, L. Tranebjaerg, V. Volpini, N. Wood, L. Ranum, S. Tsuji, A. Brice, J. Sequeiros, G.A. Rouleau
The American Journal of Human Genetics. 2001-02-01
10.1086/318184

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan.
Sergei N. Illarioshkin, Irina A. Ivanova-Smolenskaya, Rahmatullo A. Rahmonov, Elena D. Markova, Giovanni Stevanin, Alexis Brice
Mov. Disord.. 2000-09-01
10.1002/1531-8257(200009)15:53.0.CO;2-G

Clinical and genetic study of familial essential tremor in an isolate of Northern Tajikistan
Sergei N. Illarioshkin, Irina A. Ivanova-Smolenskaya, Rahmatullo A. Rahmonov, Elena D. Markova, Giovanni Stevanin, Alexis Brice
Mov. Disord.. 2000-09-01
10.1002/1531-8257(200009)15:53.0.CO;2-G

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice
The American Journal of Human Genetics. 2000-07-01
10.1086/302958

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
Giovanni Stevanin, Alexandra Herman, Alexandra Dürr, Carla Jodice, Marina Frontali, Yves Agid, Alexis Brice
Nat Genet. 2000-03-01
10.1038/73408

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.
Giovanni Stevanin, Alexandra Dürr, Alexis Brice
Eur J Hum Genet. 2000-01-01
10.1038/sj.ejhg.5200403

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.
C Zander, Q.-P Yuan, K Lindblad, G Stevanin, A Dürr, C.-S Davoine, J Hazan, B Fontaine, A Brice, M Schalling
Neuroscience Letters. 2000-01-01
10.1016/S0304-3940(99)00946-5

No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24
C Zander, Q.-P Yuan, K Lindblad, G Stevanin, A Dürr, C.-S Davoine, J Hazan, B Fontaine, A Brice, M Schalling
Neuroscience Letters. 2000-01-01
10.1016/S0304-3940(99)00946-5

Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).
G Stevanin, G David, A Dürr, P Giunti, A Benomar, M Abada-Bendib, MS Lee, Y Agid, A Brice
Eur J Hum Genet. 1999-12-01
10.1038/sj.ejhg.5200392

Clinical and MRI findings in spinocerebellar ataxia type 5.
G. Stevanin, A. Herman, A. Brice, A. Durr
Neurology. 1999-10-01
10.1212/WNL.53.6.1355

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.
R. P. Grewal, G. Cancel, E. P. Leeflang, A. Durr, M. S. McPeek, D. Draghinas, X. Yao, G. Stevanin, M.-O. Alnot, A. Brice, N. Arnheim
Human Molecular Genetics. 1999-09-01
10.1093/hmg/8.9.1779

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
P. Giunti, G. Stevanin, P.F. Worth, G. David, A. Brice, N.W. Wood
The American Journal of Human Genetics. 1999-06-01
10.1086/302406

Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families.
M. Dichgans, L. Schöls, J. Herzog, G. Stevanin, H. Weirich-Schwaiger, G. Rouleau, K. Bürk, T. Klockgether, C. Zühlke, F. Laccone, O. Riess, T. Gasser
Neurology. 1999-03-01
10.1212/WNL.52.4.849

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
H. Takano, G. Cancel, T. Ikeuchi, D. Lorenzetti, R. Mawad, G. Stevanin, O. Didierjean, A. Dürr, M. Oyake, T. Shimohata, R. Sasaki, R. Koide, S. Igarashi, S. Hayashi, Y. Takiyama, M. Nishizawa, H. Tanaka, H. Zoghbi, A. Brice, S. Tsuji
The American Journal of Human Genetics. 1998-10-01
10.1086/302067

De novo expansion of intermediate alleles in spinocerebellar ataxia 7.
G. Stevanin, P. Giunti, G. David, S. Belal, A. Durr, M. Ruberg, N. Wood, A. Brice
Human Molecular Genetics. 1998-10-01
10.1093/hmg/7.11.1809

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.
G Cancel , I Gourfinkel-An, G Stevanin, O Didierjean, N Abbas, E Hirsch, Y Agid, A Brice
Hum Mutat.
10.1002/(SICI)1098-1004(1998)11:13.3.CO;2-Y

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
G David
Human Molecular Genetics. 1998-02-01
10.1093/hmg/7.2.165

Autosomal dominant cerebellar ataxia with macular dystrophy (SCA7)
G Stevanin, G David, N Abbas, G Yvert, Y Agid, A Brice
Med Sci (Paris). 1998-01-01
10.4267/10608/1133

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3 Machado-Joseph disease
Géraldine Cancel, Isabelle Gourfinkel-An, Giovanni Stevanin, Olivier Didierjean, Nacer Abbas, Etienne Hirsch, Yves Agid, Alexis Brice
Hum. Mutat.. 1998-01-01
10.1002/(SICI)1098-1004(1998)11:13.0.CO;2-M

Clinical and molecular features of spinocerebellar ataxia type 6.
G. Stevanin, A. Dürr, G. David, O. Didierjean, G. Cancel, S. Rivaud, A. Tourbah, J.-M. Warter, Y. Agid, A. Brice
Neurology. 1997-11-01
10.1212/WNL.49.5.1243

Differential distribution of the normal and mutated forms of huntingtin in the human brain.
Isabelle Gourfinkel-An, G�raldine Cancel, Yvon Trottier, Didier Devys, Laszlo Tora, Yves Lutz, Georges Imbert, Fr�d�ric Saudou, Giovanni Stevanin, Yves Agid, Alexis Brice, Jean-Louis Mandel, Etienne C. Hirsch
Ann Neurol.. 1997-11-01
10.1002/ana.410420507

A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved.
Franck Schürhoff, Giovanni Stevanin, Yvon Trottier, Frank Bellivier, Marie Christine Mouren-Siméoni, Alexis Brice, Marion Leboyer
Psychiatry Research. 1997-09-01
10.1016/S0165-1781(97)00070-X

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Gaël Yvert, Géraldine Cancel, Chantal Weber, Georges Imbert, Frédéric Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti, Ali Benomar, Nick Wood, Merle Ruberg, Yves Agid, Jean-Louis Mandel, Alexis Brice
Nat Genet. 1997-09-01
10.1038/ng0997-65

A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved
Franck Schürhoff, Giovanni Stevanin, Yvon Trottier, Frank Bellivier, Marie Christine Mouren-Siméoni, Alexis Brice, Marion Leboyer
Psychiatry Research. 1997-09-01
10.1016/S0165-1781(97)00070-X

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.
GIOVANNI STEVANIN, ANNE-SOPHIE LEBRE, CÉCILE MATHIEUX, GÉRALDINE CANCEL, NACER ABBAS, OLIVIER DIDIERJEAN, ALEXANDRA DÜRR, YVON TROTTIER, YVES AGID, ALEXIS BRICE
The American Journal of Human Genetics. 1997-06-01
10.1016/S0002-9297(07)64251-7

Saccade velocity in idiopathic and autosomal dominant cerebellar ataxia.
K Burk, M Fetter, M Skalej, F Laccone, G Stevanin, J Dichgans, T Klockgether
Journal of Neurology, Neurosurgery & Psychiatry. 1997-06-01
10.1136/jnnp.62.6.662

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado- Joseph Disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon [6]
GIOVANNI STEVANIN, ANNE-SOPHIE LEBRE, CÉCILE MATHIEUX, GÉRALDINE CANCEL, NACER ABBAS, OLIVIER DIDIERJEAN, ALEXANDRA DÜRR, YVON TROTTIER, YVES AGID, ALEXIS BRICE
The American Journal of Human Genetics. 1997-06-01
10.1016/s0002-9297(07)64251-7

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
G. Cancel, A. Durr, O. Didierjean, G. Imbert, K. Burk, A. Lezin, S. Belal, A. Benomar, M. Abada-Bendib, C. Vial, J. Guimaraes, H. Chneiweiss, G. Stevanin, G. Yvert, N. Abbas, F. Saudou, A.-S. Lebre, M. Yahyaoui, F. Hentati, J.-C. Vernant, T. Klockgether, J.-L. Mandel, Y. Agid, A. Brice
Human Molecular Genetics. 1997-05-01
10.1093/hmg/6.5.709

Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus.
K. Bürk, G. Stevanin, O. Didierjean, G. Cancel, Y. Trottier, M. Skalej, M. Abele, A. Brice, J. Dichgans, T. Klockgether
J Neurol. 1997-04-01
10.1007/s004150050081

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.
L. Krols, Jean-Jacques Martin, Gilles David, Nicole Van Regemorter, Ali Benomar, A. L�fgren, Giovanni Stevanin, Alexandra D�rr, Alexis Brice, C. Van Broeckhoven
Human Genetics. 1997-01-27
10.1007/s004390050344

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.
G Stevanin
Human Molecular Genetics. 1996-12-01
10.1093/hmg/5.12.1887

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Georges Imbert, Frédéric Saudou, Gaël Yvert, Didier Devys, Yvon Trottier, Jean-Marie Garnier, Chantal Weber, Jean-Louis Mandel, Gëraldine Cancel, Nacer Abbas, Alexandra Dürr, Olivier Didierjean, Giovanni Stevanin, Yves Agid, Alexis Brice
Nat Genet. 1996-11-01
10.1038/ng1196-285

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
K Lindblad, M L Savontaus, G Stevanin, M Holmberg, K Digre, C Zander, H Ehrsson, G David, A Benomar, E Nikoskelainen, Y Trottier, G Holmgren, L J Ptacek, A Anttinen, A Brice, M Schalling
Genome Res.. 1996-10-01
10.1101/gr.6.10.965

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
S Igarashi
Human Molecular Genetics. 1996-07-01
10.1093/hmg/5.7.923

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families
Agnès Lezin, Jenny Martial, Géraldine Cancel, Giovanni Stevanin, Alexander Dürr, Yves Agid, Alexis Brice, Didier Smadja, Jean-Claude Vernant, Georges-Gabriel Buisson, Rémy Bellance, Hervé Chneiweiss
Hum Genet. 1996-05-01
10.1007/BF02281881

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
Alexandra Durr, Giovanni Stevanin, Geraldine Cancel, Charles Duyckaerts, Nacer Abbas, Olivier Didierjean, Herve Chneiweiss, Ali Benomar, Olivier Lyon-Caen, Jean Julien, Michel Serdaru, Christiane Penet, Yves Agid, Alexis Brice
Ann Neurol.. 1996-04-01
10.1002/ana.410390411

Mutation detection in Machado-Joseph disease using repeat expansion detection
Kerstin Lindblad, Astrid Lunkes, Patricia Maciel, Giovanni Stevanin, Cecilia Zander, Thomas Klockgether, Tim Ratzlaff, Alexis Brice, Guy A. Rouleau, Tom Hudson, Georg Auburger, Martin Schalling
Mol Med. 1996-01-01
10.1007/BF03402204

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
Yvon Trottier, Yves Lutz, Giovanni Stevanin, Georges Imbert, Didier Devys, Géraldine Cancel, Frédéric Saudou, Chantal Weber, Gilles David, Laszlo Tora, Yves Agid, Alexis Brice, Jean-Louis Mandel
Nature. 1995-11-01
10.1038/378403a0

SCA2 is not a major locus for ADCA type I in French families.
Géraldine Cancel, Giovanni Stevanin, Alexandra Dürr, Hervé Chneiweiss, Christiane Penet, Yolaine Pothin, Yves Agid, Alexis Brice
Am. J. Med. Genet.. 1995-10-09
10.1002/ajmg.1320600507

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.
G. Stevanin, E. Cassa, G. Cancel, N. Abbas, A. Durr, E. Jardim, Y. Agid, P. S Sousa, A. Brice
Journal of Medical Genetics. 1995-10-01
10.1136/jmg.32.10.827

Gender equality in Machado-Joseph disease.
Alexandra Dürr, Giovanni Stevanin, Géraldine Cancel, Nacer Abbas, Hervé Chneiweiss, Yves Agid, Josué Feingold, Alexis Brice
Nat Genet. 1995-10-01
10.1038/ng1095-118a

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families.
A Dürr, D Smadja, G Cancel, A Lezin, G Stevanin, J Mikol, R Bellance, G G Buisson, H Chneiweiss, J Dellanave, et al.
Brain. 1995
10.1007/s004390050114

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.
A. Benomar, L. Krols, G. Stevanin, G. Cancel, E. LeGuern, G. David, H. Ouhabi, J.-J. Martin, A. Dürr, A. Zaim, N. Ravisé, C. Busque, C. Penet, N. Van Regemorter, J. Weissenbach, M. Yahyaoui, T. Chkili, Y. Agid, C. Van Broeckhoven, A. Brice
Nat Genet. 1995-05-01
10.1038/ng0595-84

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.
O. Dubourg, A. Dürr, G. Cancel, G. Stevanin, C. Penet, Y. Agid, A. Brice, H. Chneiweiss
Ann Neurol.. 1995-02-01
10.1002/ana.410370207

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Alexandra Dürr, Didier Smadja, Géraldine Cancel, Agnès Lezin, Giovanni Stevanin, Jacqueline Mikol, Rémy Bellance, Georges-Gabriel Buisson, Hervé Chneiweiss, Janine Dellanavc, Yves Agid, Alexis Brice, Jean-Claude Vernant
Brain. 1995-01-01
10.1093/brain/118.6.1573

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.
Bertrand Fontaine, Claire-Sophie Rime, Jamilé Hazan, Alexandra Dürr, Giovanni Stevanin, Christiane Penet, Jocelyne Reboul, Yves Agid, Olivier Lyon-Caen, Nicole Baumann, Jean Weissenbach, Alexis Brice
Neuromuscular Disorders. 1995-01-01
10.1016/0960-8966(94)E0024-3

The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.
G. Stevanin, P.S. Sousa, G. Cancel, A. Dürr, O. Dubourg, G.A. Nicholson, J. Weissenbach, E. Jardim, Y. Agid, E. Cassa, A. Brice
Neurobiology of Disease. 1994-11-01
10.1006/nbdi.1994.0010

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.
S. Belal, G. Cancel, G. Stevanin, F. Hentati, C. Khati, C. Ben Hamida, G. Auburger, Y. Agid, M. Ben Hamida, A. Brice
Neurology. 1994-08-01
10.1212/WNL.44.8.1423

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
A. Benomar, E. Le Guern, A. Dürr, H. Ouhabi, G. Stevanin, M. Yahyaoui, T. Chkili, Y. Agid, A. Brice
Ann Neurol.. 1994-04-01
10.1002/ana.410350411

Is DRPLA also linked to 14q?
Géraldine Cancel, Alexandra Dürr, Giovanni Stevanin, Hervé Chneiweiss, Charles Duyckaerts, Michel Serdaru, Bertrand de Toffol, Yves Agid, Alexis Brice
Nat Genet. 1994-01-01
10.1038/ng0194-8

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity.
A. Durr, H. Chneiweiss, C. Khati, G. Stevanin, G. Cancel, J. Feingold, Y. Agid, A. Brice
Brain. 1993-12-01
10.1093/brain/116.6.1497

Familial essential tremor and idiopathic torsion dystonia are different genetic entities.
A. Dürr, G. Stevanin, C. P. Jedynak, C. Penet, Y. Agid MD, A. Brice
Neurology. 1993-11-01
10.1212/WNL.43.11.2212

CHROMOSOMAL ASSIGNMENT OF THE 2ND LOCUS FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (SCA2) TO CHROMOSOME 12Q23-24.1
S. Gispert, R. Twells, G. Orozco, A. Brice, J. Weber, L. Heredero, K. Scheufler, B. Riley, R. Allotey, C. Nothers, R. Hillermann, A. Lunkes, C. Khati, G. Stevanin, A. Hernandez, C. Magariño, T. Klockgether, A. Durr, H. Chneiweiss, J. Enczmann, M. Farrall, J. Beckmann, M. Mullan, P. Wernet, Y. Agid, H.-J. Freund, R. Williamson, G. Auburger, S. Chamberlain
Nat Genet. 1993-07-01
10.1038/NG0793-295

Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families.
C. Khati, G. Stevanin, A. Durr, H. Chneiweiss, S. Belal, A. Seek, H. Cann, A. Brice, Y. Agid
Neurology. 1993-06-01
10.1212/WNL.43.6.1131

Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
Géraldine Cancel, Catherine Khatl, Glovanni Stevanin, Jean-Christophe Pages, Yves Agid, Alexis Brice, Howard M.Cann
Hum Mol Genet. 1993-01-01
10.1093/hmg/2.9.1477

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.
Glovanni Stevanin, Hervé Chnelweiss, Eric Le Guern, Nicola Ravise, Alexandra Dürr, Christlane Penet, Yves Agid, Alexis Brice
Hum Mol Genet. 1993-01-01
10.1093/hmg/2.9.1483

Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.
A Brice, A L Boch, G Stevanin, C Khati, B Dubois, Y Agid, D Campion, F Clerget, J Mallet, M Bellis
Journal of Neurology, Neurosurgery & Psychiatry. 1993-01-01
10.1136/jnnp.56.1.112-a

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
A Brice, N Ravise, G Stevanin, M Gugenheim, P Bouche, C Penet, Y Agid
Journal of Medical Genetics. 1992-11-01
10.1136/jmg.29.11.807