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Neurogenetics

Showing results (261-270 of 1,080) with videos related to

Pageof 108
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Neurogenetics|January 13, 2011
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, et al.
Neurogenetics|July 20, 2010
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Neurogenetics|July 28, 2010
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypesTakashi Matsukawa, Muriel Asheuer, Yuji Takahashi, et al.
Neurogenetics|September 24, 2010
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3Elisa Schleider, Sonja Stahl, Joycelyn Wüstehube, et al.
Neurogenetics|July 2, 2010
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumAmir Boukhris, Imed Feki, Nizar Elleuch, et al.
Neurogenetics|June 10, 2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, et al.
Neurogenetics|November 27, 2010
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotypeFabienne Clot, David Grabli, Pierre Burbaud, et al.
Neurogenetics|February 9, 2011
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3Nina Norgren, Emma Mattson, Lars Forsgren, et al.
Neurogenetics|July 12, 2015
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsCarlos Córdova-Fletes, Ma Guadalupe Domínguez, Ilse Delint-Ramirez, et al.
Pageof 108

Showing results (261-270 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|January 13, 2011
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, et al.
Neurogenetics|July 20, 2010
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31Geneviève Bernard, Isabelle Thiffault, Martine Tetreault, et al.
Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.
Neurogenetics|July 28, 2010
Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypesTakashi Matsukawa, Muriel Asheuer, Yuji Takahashi, et al.
Neurogenetics|September 24, 2010
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3Elisa Schleider, Sonja Stahl, Joycelyn Wüstehube, et al.
Neurogenetics|July 2, 2010
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumAmir Boukhris, Imed Feki, Nizar Elleuch, et al.
Neurogenetics|June 10, 2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui, Feng Zhang, Charles F Towne, et al.
Neurogenetics|November 27, 2010
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotypeFabienne Clot, David Grabli, Pierre Burbaud, et al.
Neurogenetics|February 9, 2011
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3Nina Norgren, Emma Mattson, Lars Forsgren, et al.
Neurogenetics|July 12, 2015
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterationsCarlos Córdova-Fletes, Ma Guadalupe Domínguez, Ilse Delint-Ramirez, et al.
Pageof 108