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Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2010
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial designLisa S Friedman, Jennifer M Farmer, Susan Perlman, et al.European Radiology|July 6, 2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationRomina Romaniello, Filippo Arrigoni, Elena Panzeri, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, et al.European Journal of Human Genetics : EJHG|October 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndromeFulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, et al.Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.Journal of Medical Genetics|February 14, 2023
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, et al.Neurology. Genetics|June 26, 2020
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohortDona Aboud Syriani, Darice Wong, Sameer Andani, et al.Journal of Huntington'S Disease|July 22, 2025
Reliability and validity of the Huntington's Disease Everyday Functioning (Hi-DEF): A patient-reported measure of cognitive capacity on daily functioning in Huntington's diseaseJennifer Petrillo, Ruta Sawant, Rebecca Rogers, et al.Pageof 26