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Jan Senderek

Showing results (71-80 of 104) with videos related to

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American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Nature Genetics|November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek, Michael Krieger, Claudia Stendel, et al.
Cell Reports|March 28, 2019
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during NeurogenesisLuca Bartesaghi, Yiqiao Wang, Paula Fontanet, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
American Journal of Human Genetics|March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Pageof 11

Showing results (71-80 of 104) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.
Nature Genetics|November 12, 2005
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek, Michael Krieger, Claudia Stendel, et al.
Cell Reports|March 28, 2019
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during NeurogenesisLuca Bartesaghi, Yiqiao Wang, Paula Fontanet, et al.
Nature Genetics|December 29, 2009
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CMichaela Auer-Grumbach, Andrea Olschewski, Lea Papić, et al.
Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.
American Journal of Human Genetics|March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
Pageof 11