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Neurology. Genetics

Showing results (711-720 of 842) with videos related to

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Neurology. Genetics|October 23, 2025
A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2Katariina Granath, Salla M Kangas, Sanna Huhtaniska, et al.
Neurology. Genetics|October 6, 2025
Alternating Hemiplegia of Childhood and <i>ATP1A3</i>-Related Diseases: Insights From a Decade of Discovery and CollaborationAlexander J Simpson, Ailsa McLellan, Katherine Elizabeth Behl, et al.
Neurology. Genetics|September 25, 2025
Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central HypoventilationAmelie T van der Ven, Maja Hempel, Claas Kruse, et al.
Neurology. Genetics|July 15, 2025
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis ComplexRenaud Balthazard, Jimmy Li, Frédéric Loubert, et al.
Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Neurology. Genetics|December 22, 2025
Expanding the Early Childhood Manifestations of <i>ITPR1</i> Heterozygous Variants Beyond Congenital Ataxia and Gillespie SyndromeLara E Terry, Holly Dubbs, Kelly H Markwalter, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Neurology. Genetics|May 9, 2025
Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant LeukodystrophyJia Dong James Wang, Tamara N Kimball, Savvina Prapiadou, et al.
Neurology. Genetics|March 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> GeneClarisse Gins, Fabien Guimiot, Séverine Drunat, et al.
Pageof 85

Showing results (711-720 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|October 23, 2025
A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2Katariina Granath, Salla M Kangas, Sanna Huhtaniska, et al.
Neurology. Genetics|October 6, 2025
Alternating Hemiplegia of Childhood and <i>ATP1A3</i>-Related Diseases: Insights From a Decade of Discovery and CollaborationAlexander J Simpson, Ailsa McLellan, Katherine Elizabeth Behl, et al.
Neurology. Genetics|September 25, 2025
Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central HypoventilationAmelie T van der Ven, Maja Hempel, Claas Kruse, et al.
Neurology. Genetics|July 15, 2025
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis ComplexRenaud Balthazard, Jimmy Li, Frédéric Loubert, et al.
Neurology. Genetics|June 30, 2025
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry DiseaseTobias Boettcher, Christian Beetz, Daniel Schulze, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Neurology. Genetics|December 22, 2025
Expanding the Early Childhood Manifestations of <i>ITPR1</i> Heterozygous Variants Beyond Congenital Ataxia and Gillespie SyndromeLara E Terry, Holly Dubbs, Kelly H Markwalter, et al.
Neurology. Genetics|April 11, 2025
Spectrum of Phenotypes in SMA Patients With 4 <i>SMN2</i> Copies in the French Population: Registre SMA FranceLorène Gerin, Juliette Ropars, Rocío Garcia-Uzquiano, et al.
Neurology. Genetics|May 9, 2025
Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant LeukodystrophyJia Dong James Wang, Tamara N Kimball, Savvina Prapiadou, et al.
Neurology. Genetics|March 28, 2025
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> GeneClarisse Gins, Fabien Guimiot, Séverine Drunat, et al.
Pageof 85