Jorge Sequeiros

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Maria-Ceù Moreira, Sandra Klur, Andrea H. Németh et al. · Nature Genetics · 2004 · 518 citations · Full text

Yeast Rna Helicase, Natural Sciences, Genetics +7

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Maria-Céu Moreira, Clara Barbot, Nobutada Tachi et al. · Nature Genetics · 2001 · 432 citations

Systems Biology, Genetic Disorder, Genetics +7

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 384 citations · Full text

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Mathieu Anheim, B. Monga, Marie‐Céline Fleury et al. · Brain · 2009 · 242 citations · Full text

Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)‐type I in Póvoa do Varzim and Vila do Conde (north of Portugal)

Alda Sousa, Teresa Coelho, José Barros et al. · American Journal of Medical Genetics · 1995 · 231 citations