Showing results (591-600 of 872) with videos related to
Sort By:
Pageof 88
Neurology. Genetics|March 15, 2024
Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case ReportEva Klinman, Catherine Gooch, Joel S Perlmutter, et al.Neurology. Genetics|July 8, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma DeficiencyAgnès Rötig, Pauline Gaignard, Giulia Barcia, et al.Neurology. Genetics|July 22, 2024
Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case ReportMonica S Arroyo, Christine Fuller, Elizabeth K Schorry, et al.Neurology. Genetics|July 26, 2024
Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case SeriesKimiko Domoto-Reilly, B Jane Distad, Danny E Miller, et al.Neurology. Genetics|April 8, 2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic AstrocytopathyKun Leng, Cathryn R Cadwell, Walter P Devine, et al.Neurology. Genetics|March 28, 2024
Clinical and Genetic Analysis of Patients With TK2 DeficiencyFrancisco Ceballos, Pablo Serrano-Lorenzo, Laura Bermejo-Guerrero, et al.Neurology. Genetics|January 18, 2024
Improvement of an External Predictive Model Based on New Information Using a Synthetic Data Approach: Application to CADASILHenri Chhoa, Hugues Chabriat, Adelina Joanita Anato, et al.Neurology. Genetics|January 17, 2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense VariantDipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.Neurology. Genetics|September 9, 2024
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis CohortsSiting Li, Jiang Gui, Michael N Passarelli, et al.Pageof 88