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 · 521 citations · Full text

Life Sciences, Genetics, Molecular Biology +6

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 · 434 citations

Life Sciences, Genetics, Molecular Genetics +8

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 · 391 citations · Full text

Life Sciences, Genetics, Neurology +15

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 · 248 citations · Full text

Life Sciences, Genetics, Neurology +14

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 · 238 citations

Life Sciences, Genetics, Neurology +12