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Neurology. Genetics

Showing results (331-340 of 1,012) with videos related to

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Neurology. Genetics|February 24, 2018
Familial monophasic acute transverse myelitis due to the pathogenic variant in <i>VPS37A</i>Maureen A Mealy, Tai-Seung Nam, Santiago J Pardo, et al.
Neurology. Genetics|February 24, 2018
Expanding the <i>ADCY5</i> phenotype toward spastic paraparesis: A mutation in the M2 domainAnne J E Waalkens, Fleur Vansenne, Annemarie H van der Hout, et al.
Neurology. Genetics|June 24, 2022
Familial Brain Calcifications With Leukoencephalopathy: A Novel <i>PDGFB</i> VariantJack Shen, Amelle Shillington, Alberto J Espay, et al.
Neurology. Genetics|June 4, 2021
A Window Into the Myofibrillar Myopathy ProteomeTeerin Liewluck
Neurology. Genetics|November 19, 2020
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PDLetizia Straniero, Rosanna Asselta, Salvatore Bonvegna, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Neurology. Genetics|February 12, 2020
Psychometric properties of the Friedreich Ataxia Rating ScaleChristian Rummey, Louise A Corben, Martin B Delatycki, et al.
Neurology. Genetics|February 12, 2020
Analysis of <i>FUS</i>, <i>PFN2, TDP-43</i>, and <i>PLS3</i> as potential disease severity modifiers in spinal muscular atrophyRenske I Wadman, Marc D Jansen, Chantall A D Curial, et al.
Neurology. Genetics|February 12, 2020
<i>COL4A1</i>-related autosomal recessive encephalopathy in 2 Turkish childrenAhmet Yaramis, Hanns Lochmüller, Ana Töpf, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Pageof 102

Showing results (331-340 of 1,012) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|February 24, 2018
Familial monophasic acute transverse myelitis due to the pathogenic variant in <i>VPS37A</i>Maureen A Mealy, Tai-Seung Nam, Santiago J Pardo, et al.
Neurology. Genetics|February 24, 2018
Expanding the <i>ADCY5</i> phenotype toward spastic paraparesis: A mutation in the M2 domainAnne J E Waalkens, Fleur Vansenne, Annemarie H van der Hout, et al.
Neurology. Genetics|June 24, 2022
Familial Brain Calcifications With Leukoencephalopathy: A Novel <i>PDGFB</i> VariantJack Shen, Amelle Shillington, Alberto J Espay, et al.
Neurology. Genetics|June 4, 2021
A Window Into the Myofibrillar Myopathy ProteomeTeerin Liewluck
Neurology. Genetics|November 19, 2020
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PDLetizia Straniero, Rosanna Asselta, Salvatore Bonvegna, et al.
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Neurology. Genetics|February 12, 2020
Psychometric properties of the Friedreich Ataxia Rating ScaleChristian Rummey, Louise A Corben, Martin B Delatycki, et al.
Neurology. Genetics|February 12, 2020
Analysis of <i>FUS</i>, <i>PFN2, TDP-43</i>, and <i>PLS3</i> as potential disease severity modifiers in spinal muscular atrophyRenske I Wadman, Marc D Jansen, Chantall A D Curial, et al.
Neurology. Genetics|February 12, 2020
<i>COL4A1</i>-related autosomal recessive encephalopathy in 2 Turkish childrenAhmet Yaramis, Hanns Lochmüller, Ana Töpf, et al.
Neurology. Genetics|February 12, 2020
Delineating <i>MT-ATP6</i>-associated disease: From isolated neuropathy to early onset neurodegenerationClaudia Stendel, Christiane Neuhofer, Elisa Floride, et al.
Pageof 102