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Neurology. Genetics

Showing results (1-10 of 1,009) with videos related to

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Neurology. Genetics|October 16, 2020
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the <i>ND5</i> geneRoberta Brusa, Eleonora Mauri, Laura Dell'Arti, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
Neurology. Genetics|July 12, 2021
Erratum: Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy
Neurology. Genetics|December 16, 2022
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, et al.
Neurology. Genetics|December 19, 2022
Identification of Sex-Specific Genetic Variants Associated With Tau PETXin Wang, Iris Broce, Kacie D Deters, et al.
Neurology. Genetics|June 3, 2022
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral PalsyJohanna van der Put, Dalia Daugeliene, Åsa Bergendal, et al.
Neurology. Genetics|July 11, 2022
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 MutationArianna Manini, Daniele Velardo, Patrizia Ciscato, et al.
Neurology. Genetics|March 12, 2021
Biallelic Variants in the <i>COLGALT1</i> Gene Causes Severe Congenital Porencephaly: A Case ReportMariel W A Teunissen, Erik-Jan Kamsteeg, Suzanne C E H Sallevelt, et al.
Neurology. Genetics|July 24, 2019
<i>DMPK</i> gene DNA methylation levels are associated with muscular and respiratory profiles in DM1Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, et al.
Neurology. Genetics|April 12, 2016
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutationRumiko Izumi, Hitoshi Warita, Tetsuya Niihori, et al.
Pageof 101

Showing results (1-10 of 1,009) with videos related to

Sort By:
Pageof 101
Neurology. Genetics|October 16, 2020
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the <i>ND5</i> geneRoberta Brusa, Eleonora Mauri, Laura Dell'Arti, et al.
Neurology. Genetics|March 27, 2020
<i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonismViorica Chelban, Miryam Carecchio, Gillian Rea, et al.
Neurology. Genetics|July 12, 2021
Erratum: Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy
Neurology. Genetics|December 16, 2022
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, et al.
Neurology. Genetics|December 19, 2022
Identification of Sex-Specific Genetic Variants Associated With Tau PETXin Wang, Iris Broce, Kacie D Deters, et al.
Neurology. Genetics|June 3, 2022
On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral PalsyJohanna van der Put, Dalia Daugeliene, Åsa Bergendal, et al.
Neurology. Genetics|July 11, 2022
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 MutationArianna Manini, Daniele Velardo, Patrizia Ciscato, et al.
Neurology. Genetics|March 12, 2021
Biallelic Variants in the <i>COLGALT1</i> Gene Causes Severe Congenital Porencephaly: A Case ReportMariel W A Teunissen, Erik-Jan Kamsteeg, Suzanne C E H Sallevelt, et al.
Neurology. Genetics|July 24, 2019
<i>DMPK</i> gene DNA methylation levels are associated with muscular and respiratory profiles in DM1Cécilia Légaré, Gayle Overend, Simon-Pierre Guay, et al.
Neurology. Genetics|April 12, 2016
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutationRumiko Izumi, Hitoshi Warita, Tetsuya Niihori, et al.
Pageof 101