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Jan Senderek

Showing results (51-60 of 104) with videos related to

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Journal of Neurology|March 15, 2014
Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesMaria Schabhüttl, Thomas Wieland, Jan Senderek, et al.
Brain : a Journal of Neurology|September 10, 2010
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recyclingClaudia Stendel, Andreas Roos, Henning Kleine, et al.
Journal of Neuromuscular Diseases|August 9, 2024
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyAndreas Roos, Martin Häusler, Laxmikanth Kollipara, et al.
Kidney International|February 9, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Ellen Windelen, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Journal of the American Society of Nephrology : JASN|December 31, 2002
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann, Jan Senderek, Beate Sedlacek, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2002
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa, Sonja Matthiesen, Luiz F Onuchic, et al.
Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Human Mutation|April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
Acta Neuropathologica|December 24, 2013
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathologyAndreas Roos, Stephan Buchkremer, Laxmikanth Kollipara, et al.
Pageof 11

Showing results (51-60 of 104) with videos related to

Sort By:
Pageof 11
Journal of Neurology|March 15, 2014
Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesMaria Schabhüttl, Thomas Wieland, Jan Senderek, et al.
Brain : a Journal of Neurology|September 10, 2010
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recyclingClaudia Stendel, Andreas Roos, Henning Kleine, et al.
Journal of Neuromuscular Diseases|August 9, 2024
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized MyopathyAndreas Roos, Martin Häusler, Laxmikanth Kollipara, et al.
Kidney International|February 9, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Jan Senderek, Ellen Windelen, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Journal of the American Society of Nephrology : JASN|December 31, 2002
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann, Jan Senderek, Beate Sedlacek, et al.
Journal of the American Society of Nephrology : JASN|August 23, 2002
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa, Sonja Matthiesen, Luiz F Onuchic, et al.
Journal of Neurology|September 6, 2011
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseCarina Fischer, Slave Trajanoski, Lea Papić, et al.
Human Mutation|April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
Acta Neuropathologica|December 24, 2013
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathologyAndreas Roos, Stephan Buchkremer, Laxmikanth Kollipara, et al.
Pageof 11