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 (521-530 of 1,081) with videos related to

Pageof 109
Sort By:
Neurogenetics|May 12, 2026
Mechanism of the N87D mutation in SOD1-atypical amyotrophic lateral sclerosis case report and literature review molecular mechanism of N87D mutation in SOD1Chenghui Pi, Yang Liu, Zhihua Jia, et al.
Neurogenetics|November 4, 2022
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic reviewNatalia Acosta-Baena, Johanna Alexandra Tejada-Moreno, Mauricio Arcos-Burgos, et al.
Neurogenetics|November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismMichael J Keogh, D Daud, A Pyle, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Neurogenetics|May 25, 2012
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish typeMakiko Taira, Hiroyuki Ishiura, Jun Mitsui, et al.
Neurogenetics|May 4, 2012
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotideCecilia Mancini, Giovanna Vaula, Laura Scalzitti, et al.
Neurogenetics|September 5, 2014
A quantitative transcriptome reference map of the normal human brainMaria Caracausi, Lorenza Vitale, Maria Chiara Pelleri, et al.
Neurogenetics|January 19, 2016
A novel heat shock protein alpha 8 (Hspa8) molecular network mediating responses to stress- and ethanol-related behaviorsKyle R Urquhart, Yinghong Zhao, Jessica A Baker, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|June 3, 2016
Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomyMatthew J Gallek, Jesse Skoch, Tracy Ansay, et al.
Pageof 109

Showing results (521-530 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|May 12, 2026
Mechanism of the N87D mutation in SOD1-atypical amyotrophic lateral sclerosis case report and literature review molecular mechanism of N87D mutation in SOD1Chenghui Pi, Yang Liu, Zhihua Jia, et al.
Neurogenetics|November 4, 2022
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic reviewNatalia Acosta-Baena, Johanna Alexandra Tejada-Moreno, Mauricio Arcos-Burgos, et al.
Neurogenetics|November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismMichael J Keogh, D Daud, A Pyle, et al.
Neurogenetics|November 12, 2015
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutationsMichelangelo Cao, Marta Donà, M Lucia Valentino, et al.
Neurogenetics|May 25, 2012
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish typeMakiko Taira, Hiroyuki Ishiura, Jun Mitsui, et al.
Neurogenetics|May 4, 2012
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotideCecilia Mancini, Giovanna Vaula, Laura Scalzitti, et al.
Neurogenetics|September 5, 2014
A quantitative transcriptome reference map of the normal human brainMaria Caracausi, Lorenza Vitale, Maria Chiara Pelleri, et al.
Neurogenetics|January 19, 2016
A novel heat shock protein alpha 8 (Hspa8) molecular network mediating responses to stress- and ethanol-related behaviorsKyle R Urquhart, Yinghong Zhao, Jessica A Baker, et al.
Neurogenetics|March 23, 2016
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic featuresHallie Steinfeld, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|June 3, 2016
Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomyMatthew J Gallek, Jesse Skoch, Tracy Ansay, et al.
Pageof 109