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Neurology. Genetics|May 12, 2021
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic SpectraAnnelise Y Mah-Som, Cristina Skrypnyk, Andrea Guerin, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
Neurology. Genetics|April 28, 2020
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disordersThomas L Winder, Christopher A Tan, Sarah Klemm, et al.
Neurology. Genetics|April 28, 2020
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transitionJared S Rosenblum, Anthony J Cappadona, Davis P Argersinger, et al.
Neurology. Genetics|April 28, 2020
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohortMassimo Pandolfo
Neurology. Genetics|April 28, 2020
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.
Neurology. Genetics|April 29, 2021
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R Koscik, Vincent Magnotta, et al.
Neurology. Genetics|June 18, 2020
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington diseaseDaniel O Claassen, Jody Corey-Bloom, E Ray Dorsey, et al.
Neurology. Genetics|May 20, 2020
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35Yanxing Chen, Dengchang Wu, Benyan Luo, et al.
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