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Vincent Timmerman

Showing results (71-80 of 152) with videos related to

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Brain : a Journal of Neurology|June 15, 2021
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunctionJonas Van Lent, Peter Verstraelen, Bob Asselbergh, et al.
The EMBO Journal|March 1, 2021
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteinsT Reid Alderson, Elias Adriaenssens, Bob Asselbergh, et al.
Human Mutation|December 17, 2014
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKristien Peeters, Sven Bervoets, Teodora Chamova, et al.
Human Mutation|July 12, 2007
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress responseInes Dierick, Joy Irobi, Sophie Janssens, et al.
Neurobiology of Disease|May 9, 2014
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in DrosophilaBiljana Ermanoska, William W Motley, Ricardo Leitão-Gonçalves, et al.
Analytical and Bioanalytical Chemistry|December 22, 2025
Untargeted metabolomics and lipidomics to study autophagy induction in mouse embryonic fibroblastsRani Robeyns, Freke Mertens, Angela Sisto, et al.
American Journal of Human Genetics|January 21, 2010
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B geneSilke Appenzeller, Anja Schirmacher, Hartmut Halfter, et al.
American Journal of Human Genetics|September 26, 2003
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, et al.
European Journal of Medical Genetics|March 5, 2013
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, et al.
Acta Neuropathologica|August 7, 2017
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8Delphine Bouhy, Manisha Juneja, Istvan Katona, et al.
Pageof 16

Showing results (71-80 of 152) with videos related to

Sort By:
Pageof 16
Brain : a Journal of Neurology|June 15, 2021
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunctionJonas Van Lent, Peter Verstraelen, Bob Asselbergh, et al.
The EMBO Journal|March 1, 2021
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteinsT Reid Alderson, Elias Adriaenssens, Bob Asselbergh, et al.
Human Mutation|December 17, 2014
Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKristien Peeters, Sven Bervoets, Teodora Chamova, et al.
Human Mutation|July 12, 2007
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress responseInes Dierick, Joy Irobi, Sophie Janssens, et al.
Neurobiology of Disease|May 9, 2014
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in DrosophilaBiljana Ermanoska, William W Motley, Ricardo Leitão-Gonçalves, et al.
Analytical and Bioanalytical Chemistry|December 22, 2025
Untargeted metabolomics and lipidomics to study autophagy induction in mouse embryonic fibroblastsRani Robeyns, Freke Mertens, Angela Sisto, et al.
American Journal of Human Genetics|January 21, 2010
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B geneSilke Appenzeller, Anja Schirmacher, Hartmut Halfter, et al.
American Journal of Human Genetics|September 26, 2003
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, et al.
European Journal of Medical Genetics|March 5, 2013
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMichaela Auer-Grumbach, Heiko Bode, Thomas R Pieber, et al.
Acta Neuropathologica|August 7, 2017
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8Delphine Bouhy, Manisha Juneja, Istvan Katona, et al.
Pageof 16