Showing results (481-490 of 872) with videos related to

Sort By:
Pageof 88
Neurology. Genetics|September 15, 2022
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral SclerosisMaurizio Grassano, Giorgia Brodini, Giovanni De Marco, et al.
Neurology. Genetics|October 3, 2022
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and NeuropathyLeslie J Roberts, Michael McVeigh, Linda Seiderer, et al.
Neurology. Genetics|August 29, 2022
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank ParticipantsAmy Christina Ferguson, Sophie Thrippleton, David Henshall, et al.
Neurology. Genetics|August 29, 2022
Erratum: Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review
Neurology. Genetics|September 3, 2025
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant: Mild Clinical and MRI FindingsToshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.
Neurology. Genetics|June 5, 2020
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutationsValter Niemelä, Ammar Salih, Daniela Solea, et al.
Neurology. Genetics|August 13, 2021
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the ClinicJennifer Roggenbuck, Kelly A Rich, Leah Vicini, et al.
Neurology. Genetics|August 13, 2021
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case ReportElaine Choi, Breanne Dale, Rajesh RamachandranNair, et al.
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.
Pageof 88