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Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.
Neurology. Genetics|October 22, 2016
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutationValeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, et al.
Neurology. Genetics|October 21, 2016
Reassessing carrier status for dystrophinopathiesTara M Newcomb, Kevin M Flanigan
Neurology. Genetics|December 14, 2016
A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegenerationDonRaphael P Wynn, Stefan M Pulst
Neurology. Genetics|November 24, 2016
Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimicAnne-Katrin Pröbstel, André Schaller, Johanna Lieb, et al.
Neurology. Genetics|October 20, 2018
Increased KCNJ18 promoter activity as a mechanism in atypical normokalemic periodic paralysisMuhidien Soufi, Volker Ruppert, Susanne Rinné, et al.
Neurology. Genetics|October 20, 2018
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onsetSarah L Gardiner, Chiara Milanese, Merel W Boogaard, et al.
Neurology. Genetics|October 20, 2018
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunctionRichard G Lee, Maryam Sedghi, Mehri Salari, et al.
Neurology. Genetics|September 14, 2019
Erratum: Missense mutations in DYT-TOR1A dystonia
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