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Neurology. Genetics

Showing results (481-490 of 842) with videos related to

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Neurology. Genetics|April 28, 2020
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohortMassimo Pandolfo
Neurology. Genetics|April 28, 2020
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.
Neurology. Genetics|April 29, 2021
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R Koscik, Vincent Magnotta, et al.
Neurology. Genetics|June 18, 2020
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington diseaseDaniel O Claassen, Jody Corey-Bloom, E Ray Dorsey, et al.
Neurology. Genetics|May 20, 2020
<i>TGM6</i> L517W is not a pathogenic variant for spinocerebellar ataxia type 35Yanxing Chen, Dengchang Wu, Benyan Luo, et al.
Neurology. Genetics|December 2, 2022
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in <i>ACBD6</i>-Associated Syndrome: A Case ReportPatra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, et al.
Neurology. Genetics|December 16, 2022
Heterozygous <i>HTRA1</i> Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese PedigreesTingyan Yao, Junge Zhu, Xiao Wu, et al.
Neurology. Genetics|November 24, 2022
Startle Disease: An Overlooked Symptom of <i>CTNNB1</i>-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual DefectsVincent Bulot, Francis Ramond, François Mauguière, et al.
Neurology. Genetics|June 14, 2021
Genetic Influences on Hippocampal Subfields: An Emerging Area of Neuroscience ResearchNatalia Vilor-Tejedor, Tavia E Evans, Hieab H Adams, et al.
Neurology. Genetics|May 27, 2022
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP GeneTsepo Goerttler, Letizia Zanetti, Maria Regoni, et al.
Pageof 85

Showing results (481-490 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|April 28, 2020
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohortMassimo Pandolfo
Neurology. Genetics|April 28, 2020
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutationMassimo Pandolfo, Myriam Rai, Gauthier Remiche, et al.
Neurology. Genetics|April 29, 2021
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1Ellen van der Plas, Timothy R Koscik, Vincent Magnotta, et al.
Neurology. Genetics|June 18, 2020
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington diseaseDaniel O Claassen, Jody Corey-Bloom, E Ray Dorsey, et al.
Neurology. Genetics|May 20, 2020
<i>TGM6</i> L517W is not a pathogenic variant for spinocerebellar ataxia type 35Yanxing Chen, Dengchang Wu, Benyan Luo, et al.
Neurology. Genetics|December 2, 2022
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in <i>ACBD6</i>-Associated Syndrome: A Case ReportPatra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, et al.
Neurology. Genetics|December 16, 2022
Heterozygous <i>HTRA1</i> Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese PedigreesTingyan Yao, Junge Zhu, Xiao Wu, et al.
Neurology. Genetics|November 24, 2022
Startle Disease: An Overlooked Symptom of <i>CTNNB1</i>-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual DefectsVincent Bulot, Francis Ramond, François Mauguière, et al.
Neurology. Genetics|June 14, 2021
Genetic Influences on Hippocampal Subfields: An Emerging Area of Neuroscience ResearchNatalia Vilor-Tejedor, Tavia E Evans, Hieab H Adams, et al.
Neurology. Genetics|May 27, 2022
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP GeneTsepo Goerttler, Letizia Zanetti, Maria Regoni, et al.
Pageof 85