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Neurology. Genetics

Showing results (831-840 of 842) with videos related to

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Neurology. Genetics|March 13, 2026
Sex-Based Differences in Disease Burden and Phenotype in CADASIL: A Multicenter Study of 368 Korean PatientsJoong-Goo Kim, Jay Chol Choi, Chul-Hoo Kang, et al.
Neurology. Genetics|March 30, 2026
Expanding the Clinicoradiologic Phenotype of the <i>CTSA</i>-Associated Small Vessel Disease CARASAL: A Comparison With CADASILMinne N Cerfontaine, Gido Gravesteijn, Remco J Hack, et al.
Neurology. Genetics|April 6, 2026
Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in ChildhoodMichael Kiefer, Julia M Hartman, Kiera N Berggren, et al.
Neurology. Genetics|April 16, 2026
<i>KCNQ2</i> Variants in Neonatal Epilepsy: Clinical Characteristics and Neurodevelopmental Outcomes in 30 PatientsYang Li, Jing'e Li, Lili Li, et al.
Neurology. Genetics|April 22, 2026
Novel <i>ADPRS</i> Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and SeizuresPriscilla Doria de Mattos, Rafael Dias de Moura, Murilo Fígaro Bertolino, et al.
Neurology. Genetics|May 20, 2026
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With EpilepsyFan Wu, Xinna Ji, Peidi Cheng, et al.
Neurology. Genetics|May 20, 2026
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral ChangeJoan Groeneveld, Sterre C M de Boer, Welmoed Krudop, et al.
Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Neurology. Genetics|June 15, 2026
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayPapa Serigne Ndiaye, Sharan Paul, Guoli Zhao, et al.
Neurology. Genetics|June 18, 2026
Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson DiseaseMayu Ishiguro, Manabu Funayama, Daniel H Park, et al.
Pageof 85

Showing results (831-840 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|March 13, 2026
Sex-Based Differences in Disease Burden and Phenotype in CADASIL: A Multicenter Study of 368 Korean PatientsJoong-Goo Kim, Jay Chol Choi, Chul-Hoo Kang, et al.
Neurology. Genetics|March 30, 2026
Expanding the Clinicoradiologic Phenotype of the <i>CTSA</i>-Associated Small Vessel Disease CARASAL: A Comparison With CADASILMinne N Cerfontaine, Gido Gravesteijn, Remco J Hack, et al.
Neurology. Genetics|April 6, 2026
Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in ChildhoodMichael Kiefer, Julia M Hartman, Kiera N Berggren, et al.
Neurology. Genetics|April 16, 2026
<i>KCNQ2</i> Variants in Neonatal Epilepsy: Clinical Characteristics and Neurodevelopmental Outcomes in 30 PatientsYang Li, Jing'e Li, Lili Li, et al.
Neurology. Genetics|April 22, 2026
Novel <i>ADPRS</i> Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and SeizuresPriscilla Doria de Mattos, Rafael Dias de Moura, Murilo Fígaro Bertolino, et al.
Neurology. Genetics|May 20, 2026
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With EpilepsyFan Wu, Xinna Ji, Peidi Cheng, et al.
Neurology. Genetics|May 20, 2026
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral ChangeJoan Groeneveld, Sterre C M de Boer, Welmoed Krudop, et al.
Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Neurology. Genetics|June 15, 2026
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-SaguenayPapa Serigne Ndiaye, Sharan Paul, Guoli Zhao, et al.
Neurology. Genetics|June 18, 2026
Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson DiseaseMayu Ishiguro, Manabu Funayama, Daniel H Park, et al.
Pageof 85