Stefano Di Donato

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

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

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

Life Sciences, Genetics, Molecular Genetics +10

Dysfunction of the Cholesterol Biosynthetic Pathway in Huntington's Disease

Marta Valenza, Dorotea Rigamonti, Donato Goffredo et al. · Journal of Neuroscience · 2005 · 285 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Spinocerebellar ataxia types 1, 2, 3, and 6

T. Schmitz‐Hübsch, Mathieu Coudert, Peter Bauer et al. · Neurology · 2008 · 278 citations

Medicine, Neurology, Neuroscience +14