Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Neurogenetics

Showing results (651-660 of 949) with videos related to

Pageof 95
Sort By:
Neurogenetics|May 1, 2026
Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplicationRyotaro Yui, Teruya Morizumi, Nobuhiko Ohashi, et al.
Neurogenetics|May 6, 2026
A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndromeVasileios Siokas, Maria Sokratous, Antonia Tsika, et al.
Neurogenetics|December 23, 2016
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvementAndreea Manole, Alejandro Horga, Josep Gamez, et al.
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
Neurogenetics|March 19, 2014
Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosisChristina M Lill, Marcel Schilling, Sara Ansaloni, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Neurogenetics|May 13, 2014
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyMi-Hyun Park, Hae-Mi Woo, Young Bin Hong, et al.
Neurogenetics|October 12, 2016
Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully, Juliette Ropars, Laurence Hubert, et al.
Neurogenetics|November 5, 2018
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicingPeter Sparber, Andrey Marakhonov, Alexandra Filatova, et al.
Neurogenetics|September 30, 2016
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingKishore R Kumar, G M Wali, Mahesh Kamate, et al.
Pageof 95

Showing results (651-660 of 949) with videos related to

Sort By:
Pageof 95
Neurogenetics|May 1, 2026
Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplicationRyotaro Yui, Teruya Morizumi, Nobuhiko Ohashi, et al.
Neurogenetics|May 6, 2026
A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndromeVasileios Siokas, Maria Sokratous, Antonia Tsika, et al.
Neurogenetics|December 23, 2016
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvementAndreea Manole, Alejandro Horga, Josep Gamez, et al.
Neurogenetics|January 7, 2017
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotypeRoberta La Piana, Woranontee Weraarpachai, Luis H Ospina, et al.
Neurogenetics|March 19, 2014
Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosisChristina M Lill, Marcel Schilling, Sara Ansaloni, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Neurogenetics|May 13, 2014
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyMi-Hyun Park, Hae-Mi Woo, Young Bin Hong, et al.
Neurogenetics|October 12, 2016
Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully, Juliette Ropars, Laurence Hubert, et al.
Neurogenetics|November 5, 2018
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicingPeter Sparber, Andrey Marakhonov, Alexandra Filatova, et al.
Neurogenetics|September 30, 2016
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingKishore R Kumar, G M Wali, Mahesh Kamate, et al.
Pageof 95