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Vincent Timmerman

Showing results (131-140 of 152) with videos related to

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Nature Genetics|May 4, 2004
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathyJoy Irobi, Katrien Van Impe, Pavel Seeman, et al.
American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
Nature Genetics|January 24, 2006
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathyAlbena Jordanova, Joy Irobi, Florian P Thomas, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
Nature Genetics|September 28, 2005
Mutations in SEPT9 cause hereditary neuralgic amyotrophyGregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, et al.
Pageof 16

Showing results (131-140 of 152) with videos related to

Sort By:
Pageof 16
Nature Genetics|May 4, 2004
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathyJoy Irobi, Katrien Van Impe, Pavel Seeman, et al.
American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Brain : a Journal of Neurology|May 13, 2010
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMagdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, et al.
Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.
Nature Genetics|May 4, 2004
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathyOleg V Evgrafov, Irena Mersiyanova, Joy Irobi, et al.
Nature Genetics|January 24, 2006
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathyAlbena Jordanova, Joy Irobi, Florian P Thomas, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
Nature Genetics|September 28, 2005
Mutations in SEPT9 cause hereditary neuralgic amyotrophyGregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, et al.
Pageof 16