Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene
Sarah Courtois, Chloé Angelini, Juliette Preud’homme, Mégane Le Quang, Elodie Dumon, Stéphanie Dulucq, Nathalie Aladjidi, Caroline Kannengiesser, Pascal Barat, Sophie Naudion, Caroline Espil, Marie-Laure Martin-Negrier, Aurélien Trimouille
Mitochondrion. 2026-05-01
10.1016/j.mito.2026.102136

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique
Ignacio Antolin‐Sanfeliz, Anna‐Gaelle Giguet‐Valard, Sophie Duclos, Cécile Cazeneuve, Chloé Angelini, Aïssatou Signaté, Russell L. Margolis, Cyril Goizet, Rémi Bellance
Movement Disord Clin Pract. 2025-10-11
10.1002/mdc3.70379

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and C19orf12 Research
Barbara Gnutti, Arcangela Iuso, Chloé Angelini, Dario Finazzi
Brain Sciences. 2025-07-22
10.3390/brainsci15080777

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar
Epilepsia. 2025-06-18
10.1111/epi.18507

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

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models
Laetitia Dard, Christophe Hubert, Pauline Esteves, Wendy Blanchard, Ghina Bou About, Lyla Baldasseroni, Elodie Dumon, Chloe Angelini, Mégane Delourme, Véronique Guyonnet-Dupérat, Stéphane Claverol, Laura Fontenille, Karima Kissa, Pierre-Emmanuel Séguéla, Jean-Benoît Thambo, Lévy Nicolas, Yann Herault, Nadège Bellance, Nivea Dias Amoedo, Frédérique Magdinier, Tania Sorg, Didier Lacombe, Rodrigue Rossignol
Journal of Clinical Investigation. 2022-04-15
10.1172/JCI131053

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

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
Chloé Angelini, Aurélien Trimouille, Benoit Arveiler, Caroline Espil-Taris, Nobuyasu Ichinose, Eulalie Lasseaux, Thomas Tourdias, Didier Lacombe
European Journal of Medical Genetics. 2021-04-01
10.1016/j.ejmg.2021.104188

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Chloé Angelini, Marie Thibaud, Nathalie Aladjidi, Pierre Bessou, Sébastien Cabasson, Cindy Colson, Caroline Espil-Taris, Cyril Goizet, Marie Husson, Fanny Morice-Picard, Annachiara De Sandre-Giovannoli, Jean-Michel Pédespan
Neuropediatrics. 2020-03-06
10.1055/s-0040-1701671

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
Chloé Angelini, Julien Van Gils, Antoine Bigourdan, Pierre-Simon Jouk, Didier Lacombe, Patrice Menegon, Sébastien Moutton, Florence Riant, Guilhem Sole, Elisabeth Tournier-Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goizet
European Journal of Medical Genetics. 2019-06-01
10.1016/j.ejmg.2018.08.011