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Neurogenetics

Showing results (861-870 of 949) with videos related to

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Neurogenetics|March 31, 2015
Long intervening non-coding RNA 00320 is human brain-specific and highly expressed in the cortical white matterJames D Mills, Jieqiong Chen, Woojin S Kim, et al.
Neurogenetics|June 25, 2014
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onsetL Armstrong, R Biancheri, C Shyr, et al.
Neurogenetics|August 21, 2020
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosisHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Neurogenetics|July 9, 2020
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxiaMassimo Santoro, Alessia Perna, Piergiorgio La Rosa, et al.
Neurogenetics|April 11, 2023
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10aFrederike L Harms, Deike Weiss, Jasmin Lisfeld, et al.
Neurogenetics|June 30, 2006
Mitochondrial DNA sequence variation and mutation rate in patients with CADASILJohanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Neurogenetics|March 18, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsAlejandro Leal, Kathrin Huehne, Finn Bauer, et al.
Neurogenetics|March 10, 2009
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's diseaseM A Nalls, R J Guerreiro, J Simon-Sanchez, et al.
Neurogenetics|May 16, 2007
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's diseaseAlejandro Arias-Vásquez, Aaron Isaacs, Yurii S Aulchenko, et al.
Pageof 95

Showing results (861-870 of 949) with videos related to

Sort By:
Pageof 95
Neurogenetics|March 31, 2015
Long intervening non-coding RNA 00320 is human brain-specific and highly expressed in the cortical white matterJames D Mills, Jieqiong Chen, Woojin S Kim, et al.
Neurogenetics|June 25, 2014
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onsetL Armstrong, R Biancheri, C Shyr, et al.
Neurogenetics|August 21, 2020
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosisHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Neurogenetics|July 9, 2020
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxiaMassimo Santoro, Alessia Perna, Piergiorgio La Rosa, et al.
Neurogenetics|April 11, 2023
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10aFrederike L Harms, Deike Weiss, Jasmin Lisfeld, et al.
Neurogenetics|June 30, 2006
Mitochondrial DNA sequence variation and mutation rate in patients with CADASILJohanna Annunen-Rasila, Saara Finnilä, Kati Mykkänen, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Neurogenetics|March 18, 2009
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal modelsAlejandro Leal, Kathrin Huehne, Finn Bauer, et al.
Neurogenetics|March 10, 2009
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's diseaseM A Nalls, R J Guerreiro, J Simon-Sanchez, et al.
Neurogenetics|May 16, 2007
The cholesteryl ester transfer protein (CETP) gene and the risk of Alzheimer's diseaseAlejandro Arias-Vásquez, Aaron Isaacs, Yurii S Aulchenko, et al.
Pageof 95