Hospital Maria Pia

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

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

Judith Melki, Sonia Abdelhak, P. Sheth et al. · Nature · 1990 · 397 citations

Genetic Analysis, Genetic Disorder, Genetics +6

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 263 citations · Full text