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Neurogenetics

Showing results (341-350 of 1,080) with videos related to

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Neurogenetics|July 14, 2009
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxinGiovanni Airoldi, Andrea Guidarelli, Orazio Cantoni, et al.
Neurogenetics|August 26, 2009
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypesSilmara P Gouvea, Vinícius H S Borghetti, Keity C Bueno, et al.
Neurogenetics|August 29, 2009
Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)Conceição Bettencourt, Cristina Santos, Rafael Montiel, et al.
Neurogenetics|September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's diseaseAnne S Soehn, Thomas Franck, Saskia Biskup, et al.
Neurogenetics|April 2, 2010
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burdenLaura Thomas, Lan Kluwe, Nadia Chuzhanova, et al.
Neurogenetics|April 23, 2009
Movement disorder and neuronal migration disorder due to ARFGEF2 mutationM C Y de Wit, I F M de Coo, D J J Halley, et al.
Neurogenetics|March 27, 2009
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora diseaseM Traoré, G Landouré, W Motley, et al.
Neurogenetics|February 26, 2010
Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controlsMargaret Daniele Fallin, Megan Szymanski, Ruihua Wang, et al.
Neurogenetics|June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutationEsther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
Pageof 108

Showing results (341-350 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|July 14, 2009
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxinGiovanni Airoldi, Andrea Guidarelli, Orazio Cantoni, et al.
Neurogenetics|August 26, 2009
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypesSilmara P Gouvea, Vinícius H S Borghetti, Keity C Bueno, et al.
Neurogenetics|August 29, 2009
Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)Conceição Bettencourt, Cristina Santos, Rafael Montiel, et al.
Neurogenetics|September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's diseaseAnne S Soehn, Thomas Franck, Saskia Biskup, et al.
Neurogenetics|April 2, 2010
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burdenLaura Thomas, Lan Kluwe, Nadia Chuzhanova, et al.
Neurogenetics|April 23, 2009
Movement disorder and neuronal migration disorder due to ARFGEF2 mutationM C Y de Wit, I F M de Coo, D J J Halley, et al.
Neurogenetics|March 27, 2009
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora diseaseM Traoré, G Landouré, W Motley, et al.
Neurogenetics|February 26, 2010
Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controlsMargaret Daniele Fallin, Megan Szymanski, Ruihua Wang, et al.
Neurogenetics|June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutationEsther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
Pageof 108