Paula Coutinho

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

P Trouillas, T Takayanagi, Mark Hallett et al. · Journal of the Neurological Sciences · 1997 · 1.3K citations

Neurobiology Of Disease, Neurological Disorder, Clinical Neurology +9

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

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 331 citations

Biology, Neuroanatomy, Genetics +8

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano et al. · PubMed · 1995 · 320 citations