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Neurology. Genetics

Showing results (661-670 of 842) with videos related to

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Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Neurology. Genetics|May 16, 2019
Novel pathogenic <i>XK</i> mutations in McLeod syndrome and interaction between XK protein and choreinYuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.
Neurology. Genetics|May 16, 2019
Oligogenic basis of sporadic ALS: The example of <i>SOD1</i> p.Ala90Val mutationLiina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.
Neurology. Genetics|July 27, 2018
<i>SCN11A</i> Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, et al.
Neurology. Genetics|July 27, 2018
Expanding the phenotype of de novo <i>SLC25A4</i>-linked mitochondrial disease to include mild myopathyMartin S King, Kyle Thompson, Sila Hopton, et al.
Neurology. Genetics|October 6, 2021
Activation of a Cryptic Splice Site of <i>GFAP</i> in a Patient With Adult-Onset Alexander DiseaseEiichiro Amano, Tomokatsu Yoshida, Ikuko Mizuta, et al.
Neurology. Genetics|October 11, 2021
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in <i>GDAP1</i> in Northern FinlandMaria Lehtilahti, Mika Kallio, Kari Majamaa, et al.
Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i>Alison M R Castle, Smrithi Salian, Haim Bassan, et al.
Neurology. Genetics|April 18, 2022
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous <i>POLR3B</i> MutationsHui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Pageof 85

Showing results (661-670 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Neurology. Genetics|May 16, 2019
Novel pathogenic <i>XK</i> mutations in McLeod syndrome and interaction between XK protein and choreinYuka Urata, Masayuki Nakamura, Natsuki Sasaki, et al.
Neurology. Genetics|May 16, 2019
Oligogenic basis of sporadic ALS: The example of <i>SOD1</i> p.Ala90Val mutationLiina Kuuluvainen, Karri Kaivola, Saana Mönkäre, et al.
Neurology. Genetics|July 27, 2018
<i>SCN11A</i> Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, et al.
Neurology. Genetics|July 27, 2018
Expanding the phenotype of de novo <i>SLC25A4</i>-linked mitochondrial disease to include mild myopathyMartin S King, Kyle Thompson, Sila Hopton, et al.
Neurology. Genetics|October 6, 2021
Activation of a Cryptic Splice Site of <i>GFAP</i> in a Patient With Adult-Onset Alexander DiseaseEiichiro Amano, Tomokatsu Yoshida, Ikuko Mizuta, et al.
Neurology. Genetics|October 11, 2021
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in <i>GDAP1</i> in Northern FinlandMaria Lehtilahti, Mika Kallio, Kari Majamaa, et al.
Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in <i>GPAA1</i>Alison M R Castle, Smrithi Salian, Haim Bassan, et al.
Neurology. Genetics|April 18, 2022
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous <i>POLR3B</i> MutationsHui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Pageof 85