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Neurology. Genetics

Showing results (441-450 of 842) with videos related to

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Neurology. Genetics|March 14, 2022
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionAngelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, et al.
Neurology. Genetics|December 4, 2023
Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysisJulie Barberio, Cathy Lally, Varant Kupelian, et al.
Neurology. Genetics|December 4, 2023
Adult Phenotype of <i>SYNGAP1</i>-DEEMarlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Neurology. Genetics|August 2, 2023
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case ReportShotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Neurology. Genetics|July 21, 2023
<i>LAMA2</i>-Related Muscular Dystrophy Across the Life Span: A Cross-sectional StudyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.
Neurology. Genetics|July 10, 2023
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELASVadim Khasminsky, Eitan Auriel, Judith Luckman, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Pageof 85

Showing results (441-450 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|March 14, 2022
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense SubstitutionAngelisa Frasca, Efterpi Pavlidou, Matteo Bizzotto, et al.
Neurology. Genetics|December 4, 2023
Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysisJulie Barberio, Cathy Lally, Varant Kupelian, et al.
Neurology. Genetics|December 4, 2023
Adult Phenotype of <i>SYNGAP1</i>-DEEMarlene Rong, Tim Benke, Quratulain Zulfiqar Ali, et al.
Neurology. Genetics|August 30, 2023
Frequency of GAA-<i>FGF14</i> Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar AtaxiaLuiz Eduardo Novis, Rodrigo S Frezatti, David Pellerin, et al.
Neurology. Genetics|August 2, 2023
Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case ReportShotaro Haji, Ryosuke Miyamoto, Hiroyuki Morino, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Neurology. Genetics|July 21, 2023
<i>LAMA2</i>-Related Muscular Dystrophy Across the Life Span: A Cross-sectional StudyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.
Neurology. Genetics|July 10, 2023
Clinicoradiologic Criteria for the Diagnosis of Stroke-like Episodes in MELASVadim Khasminsky, Eitan Auriel, Judith Luckman, et al.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Pageof 85