Evolutionary model of repeat insertions in Ataxin-3 traces the origin of the polyglutamine stretch to an ancestral ubiquitin binding module
Daniela Felício, Sandra Martins, Guilherme Pimenta Alves, António Amorim, Sandra Macedo‐Ribeiro, Matthew Merski
Protein Science. 2024-11-26
10.1002/pro.5236

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
Daniela Felício, Tanguy Rubat du Mérac, António Amorim, Sandra Martins
Hum. Genet.. 2023-10-16
10.1007/s00439-023-02607-4

Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility
Daniela Felício, Andreia Dias, Sandra Martins, Estefânia Carvalho, Alexandra M. Lopes, Nádia Pinto, Carolina Lemos, Mariana Santos, Miguel Alves-Ferreira
J Headache Pain. 2023-06-29
10.1186/s10194-023-01615-z

Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease
Daniela Felício, Miguel Alves-Ferreira, Mariana Santos, Marlene Quintas, Alexandra M Lopes, Carolina Lemos, Nádia Pinto, Sandra Martins
Briefings in Functional Genomics. 2023-05-30
10.1093/bfgp/elad020

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine
Andreia Dias, Mariana Santos, Estefânia Carvalho, Daniela Felício, Paulo Silva, Ivânia Alves, Teresa Pinho, Alda Sousa, Miguel Alves‐Ferreira, Carolina Lemos
Clinical Genetics. 2023-05-26
10.1111/cge.14379

Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
Daniela Felício, Mariana Santos
Cerebellum. 2023-03-09
10.1007/s12311-023-01540-6