Marina Frontali

Trinucleotide repeat length instability and age of onset in Huntington's disease

Mabel P. Duyao, C M Ambrose, Richard H. Myers et al. · Nature Genetics · 1993 · 1.1K citations

Medicine, Genetics, Molecular Genetics +12

Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

Enza Maria Valente, Anna Rita Bentivoglio, Peter Dixon et al. · The American Journal of Human Genetics · 2001 · 489 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · HAL (Le Centre pour la Communication Scientifique Directe) · 1996 · 468 citations

Life Sciences, Genetics, Molecular Genetics +10

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