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Vincent Timmerman

Showing results (101-110 of 152) with videos related to

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Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2019
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathyNathalie Bernard-Marissal, Gerben van Hameren, Manisha Juneja, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Nature Genetics|February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseStephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 17, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseManisha Juneja, Abdelkrim Azmi, Jonathan Baets, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
American Journal of Human Genetics|October 6, 2010
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, et al.
Human Molecular Genetics|July 23, 2003
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing-Jen Lee, Dennis A Stephenson, Michael J Groves, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Autophagy Reports|September 18, 2025
Biarylacetamides: a novel class of late-stage autophagy inhibitorsMélissa Lallier, Rani Robeyns, Freke Mertens, et al.
Pageof 16

Showing results (101-110 of 152) with videos related to

Sort By:
Pageof 16
Nature Genetics|October 20, 2009
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo Kurth, Torsten Pamminger, J Christopher Hennings, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 20, 2019
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathyNathalie Bernard-Marissal, Gerben van Hameren, Manisha Juneja, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Nature Genetics|February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseStephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 17, 2018
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth diseaseManisha Juneja, Abdelkrim Azmi, Jonathan Baets, et al.
Neurogenetics|March 17, 2010
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotypeDagmara Kabzińska, Halina Strugalska-Cynowska, Anna Kostera-Pruszczyk, et al.
American Journal of Human Genetics|October 6, 2010
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Michaela Auer-Grumbach, Katrien Janssens, et al.
Human Molecular Genetics|July 23, 2003
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing-Jen Lee, Dennis A Stephenson, Michael J Groves, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)Olga Koop, Anja Schirmacher, Eva Nelis, et al.
Autophagy Reports|September 18, 2025
Biarylacetamides: a novel class of late-stage autophagy inhibitorsMélissa Lallier, Rani Robeyns, Freke Mertens, et al.
Pageof 16