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Nature|April 14, 2017
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2Daniel R Scoles, Pratap Meera, Matthew D Schneider, et al.
Human Mutation|December 3, 2009
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsKarla P Figueroa, Natali A Minassian, Giovanni Stevanin, et al.
Biology|May 28, 2025
Identifying Molecular Properties of Ataxin-2 Inhibitors for Spinocerebellar Ataxia Type 2 Utilizing High-Throughput Screening and Machine LearningSmita Sahay, Jingran Wen, Daniel R Scoles, et al.
Neurology|August 20, 2025
Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar AtaxiasEmilien Petit, Daniel López Domínguez, Cecilia Marelli, et al.
Cell Reports|October 13, 2021
Cholecystokinin 1 receptor activation restores normal mTORC1 signaling and is protective to Purkinje cells of SCA miceEmily A L Wozniak, Zhao Chen, Sharan Paul, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 28, 2015
Relationship of creatine kinase to body composition, disease state, and longevity in ALSSummer B Gibson, Edward J Kasarskis, Nan Hu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 3, 2026
Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia CohortAnnie Chen, Udbhav Avadhani, Kathie Ngo, et al.
Disease Models & Mechanisms|March 26, 2016
Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxiaKarla P Figueroa, Sharan Paul, Tito Calì, et al.
Muscle & Nerve|July 24, 2009
Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybridsMarianna Sikorska, Jagdeep K Sandhu, David K Simon, et al.
Annals of Neurology|August 18, 2016
ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosisPan P Li, Xin Sun, Guangbin Xia, et al.
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