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Movement Disorders Clinical Practice|September 9, 2025
Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease PatientsGiulia Di Rauso, Alessandro Ghibellini, Sara Grisanti, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 24, 2025
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease PatientsChristian A Ganoza, Ana Westenberger, Jefri J Paul, et al.Cerebellum (London, England)|June 25, 2011
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findingsHeike Jacobi, Till-Karsten Hauser, Paola Giunti, et al.Movement Disorders Clinical Practice|October 27, 2018
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease ProgressionAlhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, et al.Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.Pageof 67