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Vincent Timmerman

Showing results (121-130 of 152) with videos related to

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American Journal of Human Genetics|April 24, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, et al.
Annals of Neurology|May 4, 2004
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig L Bennett, Andrew J Shirk, Huy M Huynh, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Current Biology : CB|August 24, 2024
Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane trafficJudith Ottensmeyer, Alessandra Esch, Henrique Baeta, et al.
JCI Insight|July 14, 2026
HDAC6 inhibition alleviates mitochondrial trafficking in novel models of Charcot-Marie-Tooth Disease Type 2ALydia H Jestice, Larissa Butler, Rebecca A Lea, 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|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.
Nature Communications|March 8, 2023
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundlingBiljana Ermanoska, Bob Asselbergh, Laura Morant, et al.
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Autophagy|February 28, 2023
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathiesBarbara Tedesco, Leen Vendredy, Elias Adriaenssens, et al.
Pageof 16

Showing results (121-130 of 152) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|April 24, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Ying-Zhang Chen, Craig L Bennett, Huy M Huynh, et al.
Annals of Neurology|May 4, 2004
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerveCraig L Bennett, Andrew J Shirk, Huy M Huynh, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Current Biology : CB|August 24, 2024
Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane trafficJudith Ottensmeyer, Alessandra Esch, Henrique Baeta, et al.
JCI Insight|July 14, 2026
HDAC6 inhibition alleviates mitochondrial trafficking in novel models of Charcot-Marie-Tooth Disease Type 2ALydia H Jestice, Larissa Butler, Rebecca A Lea, 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|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.
Nature Communications|March 8, 2023
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundlingBiljana Ermanoska, Bob Asselbergh, Laura Morant, et al.
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Autophagy|February 28, 2023
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathiesBarbara Tedesco, Leen Vendredy, Elias Adriaenssens, et al.
Pageof 16