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Neurology. Genetics

Showing results (571-580 of 842) with videos related to

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Neurology. Genetics|August 18, 2020
Homoplasmic mitochondrial tRNA<sup>Pro</sup> mutation causing exercise-induced muscle swelling and fatigueKarine Auré, Guillemette Fayet, Ivan Chicherin, et al.
Neurology. Genetics|August 18, 2020
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotypeAlfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, et al.
Neurology. Genetics|April 22, 2021
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, et al.
Neurology. Genetics|July 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline MyopathyClara Hildebrandt, Casie A Genetti, Tanya Logvinenko, et al.
Neurology. Genetics|June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic DiseaseAlena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
Neurology. Genetics|June 11, 2025
Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic ResourcesAllison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, et al.
Neurology. Genetics|March 22, 2024
Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic <i>SLC6A1</i> Variant: A Case ReportVictoire Leclert, Chloe Laurencin, Roxana Ameli, et al.
Neurology. Genetics|March 15, 2024
Novel <i>SGCE</i> 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 <i>GOSR2</i> Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case ReportMonica S Arroyo, Christine Fuller, Elizabeth K Schorry, et al.
Pageof 85

Showing results (571-580 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|August 18, 2020
Homoplasmic mitochondrial tRNA<sup>Pro</sup> mutation causing exercise-induced muscle swelling and fatigueKarine Auré, Guillemette Fayet, Ivan Chicherin, et al.
Neurology. Genetics|August 18, 2020
Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotypeAlfonsina Ballester-Lopez, Judit Núñez-Manchón, Emma Koehorst, et al.
Neurology. Genetics|April 22, 2021
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, et al.
Neurology. Genetics|July 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline MyopathyClara Hildebrandt, Casie A Genetti, Tanya Logvinenko, et al.
Neurology. Genetics|June 30, 2025
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic DiseaseAlena Musilova, Petra Lassuthova, Anna Uhrova Meszarosova, et al.
Neurology. Genetics|June 11, 2025
Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic ResourcesAllison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, et al.
Neurology. Genetics|March 22, 2024
Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic <i>SLC6A1</i> Variant: A Case ReportVictoire Leclert, Chloe Laurencin, Roxana Ameli, et al.
Neurology. Genetics|March 15, 2024
Novel <i>SGCE</i> 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 <i>GOSR2</i> Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case ReportMonica S Arroyo, Christine Fuller, Elizabeth K Schorry, et al.
Pageof 85