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Neurogenetics

Showing results (231-240 of 1,080) with videos related to

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Neurogenetics|February 20, 2025
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analysesMitesh Patel, Reem Binsuwaidan, Malvi Surti, et al.
Neurogenetics|January 6, 2025
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing lossMengyi Lu, Kai Zhou, Xiuyun Yang, et al.
Neurogenetics|March 11, 2025
A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian familyAlassane Baneye Maiga, Abdoulaye Arama, Abdoulaye Yalcouyé, et al.
Neurogenetics|January 13, 2025
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)Suzanna Edgar, Nurul Angelyn Zulhairy-Liong, Melina Ellis, et al.
Neurogenetics|December 11, 2024
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencingBao-Guang Li, Wen-Juan Wu, Li-Hui Wang, et al.
Neurogenetics|July 24, 2024
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newbornsBehzad Haj Mohammad Hassani, Kianoosh Malekzadeh
Neurogenetics|April 16, 2024
The Apo gene's genetic variants: hidden role in Asian vascular riskValentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, et al.
Neurogenetics|April 16, 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, et al.
Neurogenetics|September 1, 2023
Adult-onset Alexander disease among patients of Jewish Syrian descentSaar Anis, Tsvia Fay-Karmon, Simon Lassman, et al.
Neurogenetics|August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament lightEdouard Palu, Julius Järvilehto, Jana Pennonen, et al.
Pageof 108

Showing results (231-240 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|February 20, 2025
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analysesMitesh Patel, Reem Binsuwaidan, Malvi Surti, et al.
Neurogenetics|January 6, 2025
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing lossMengyi Lu, Kai Zhou, Xiuyun Yang, et al.
Neurogenetics|March 11, 2025
A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian familyAlassane Baneye Maiga, Abdoulaye Arama, Abdoulaye Yalcouyé, et al.
Neurogenetics|January 13, 2025
ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS)Suzanna Edgar, Nurul Angelyn Zulhairy-Liong, Melina Ellis, et al.
Neurogenetics|December 11, 2024
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencingBao-Guang Li, Wen-Juan Wu, Li-Hui Wang, et al.
Neurogenetics|July 24, 2024
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newbornsBehzad Haj Mohammad Hassani, Kianoosh Malekzadeh
Neurogenetics|April 16, 2024
The Apo gene's genetic variants: hidden role in Asian vascular riskValentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, et al.
Neurogenetics|April 16, 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, et al.
Neurogenetics|September 1, 2023
Adult-onset Alexander disease among patients of Jewish Syrian descentSaar Anis, Tsvia Fay-Karmon, Simon Lassman, et al.
Neurogenetics|August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament lightEdouard Palu, Julius Järvilehto, Jana Pennonen, et al.
Pageof 108