Paola Giunti

Scale for the assessment and rating of ataxia

T. Schmitz-Hübsch, Sophie Tézenas du Montcel, L. Baliko et al. · Neurology · 2006 · 1.9K citations

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Gilles David, Nacer Abbas, Giovanni Stévanin et al. · Nature Genetics · 1997 · 769 citations

Sca7 Gene, Molecular Research, Natural Sciences +5

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

Joyce van de Leemput, Jayanth Chandran, Melanie A. Knight et al. · PLoS Genetics · 2007 · 342 citations · Full text

Genetics, Molecular Genetics, Disease Gene Identification +17

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Heike Jacobi, Sophie Tézenas du Montcel, Peter Bauer et al. · The Lancet Neurology · 2015 · 286 citations

Longitudinal Cohort Study, Neurological Disorder, Long-term Disease Progression +4

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (<scp>MOXIe</scp> Study)

David R. Lynch, Melanie Chin, Martin B. Delatycki et al. · Annals of Neurology · 2020 · 273 citations · Full text