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Disease Models & Mechanisms|November 9, 2012
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxiaAurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, et al.Annals of Neurology|May 21, 2013
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsyYuki Hitomi, Erin L Heinzen, Simona Donatello, et al.The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry|November 20, 2014
Cerebellar Transcranial Direct Current Stimulation (ctDCS): A Novel Approach to Understanding Cerebellar Function in Health and DiseaseGiuliana Grimaldi, Georgios P Argyropoulos, Amy Bastian, et al.Epilepsia|August 27, 2004
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12Samuel F Berkovic, Jose M Serratosa, Hilary A Phillips, et al.Movement Disorders Clinical Practice|October 27, 2018
Standardized Assessment of Hereditary Ataxia Patients in Clinical StudiesBrigitte K Paap, Sandra Roeske, Alexandra Durr, et al.JCI Insight|December 27, 2019
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxiaMariana Igoillo-Esteve, Ana F Oliveira, Cristina Cosentino, et al.Neuroimage|July 28, 2009
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6Jörg B Schulz, Johannes Borkert, Stefanie Wolf, et al.Brain : a Journal of Neurology|February 21, 2013
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6Kathrin Reetz, Ana S Costa, Shahram Mirzazade, et al.Neurology(R) Neuroimmunology & Neuroinflammation|August 8, 2022
Cerebellar Ataxia With Anti-DNER Antibodies: Outcomes and Immunologic FeaturesElise Peter, Le Duy Do, Salem Hannoun, et al.Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.Pageof 35