Vincent Timmerman
Vincent Timmerman
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ...
Nature genetics 36 (5), 449-451, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J Irobi, I Dierick, A Abel, ...
The American Journal of Human Genetics 74 (6), 1128-1135, 2004
The hnRNP family: insights into their role in health and disease
T Geuens, D Bouhy, V Timmerman
Human genetics 135, 851-867, 2016
Duplication in chromosome 17p11. 2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
P Raeymaekers, V Timmerman, E Nelis, P De Jonghe, JE Hoogenduk, ...
Neuromuscular disorders 1 (2), 93-97, 1991
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
OV Evgrafov, I Mersiyanova, J Irobi, L Van Den Bosch, I Dierick, CL Leung, ...
Nature genetics 36 (6), 602-606, 2004
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
K Verhoeven, P De Jonghe, K Coen, N Verpoorten, M Auer-Grumbach, ...
The American Journal of Human Genetics 72 (3), 722-727, 2003
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
C d'Ydewalle, J Krishnan, DM Chiheb, P Van Damme, J Irobi, ...
Nature medicine 17 (8), 968-974, 2011
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J Irobi, KV Impe, P Seeman, A Jordanova, I Dierick, N Verpoorten, ...
Nature genetics 36 (6), 597-601, 2004
The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication
V Timmerman, E Nelis, W Van Hul, BW Nieuwenhuijsen, KL Chen, ...
Nature genetics 1 (3), 171-175, 1992
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ...
Nature genetics 36 (3), 271-276, 2004
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A Jordanova, J Irobi, FP Thomas, P Van Dijck, K Meerschaert, M Dewil, ...
Nature genetics 38 (2), 197-202, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
S Züchner, P De Jonghe, A Jordanova, KG Claeys, V Guergueltcheva, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ...
Nature genetics 37 (3), 289-294, 2005
MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
K Verhoeven, KG Claeys, S Züchner, JM Schröder, J Weis, C Ceuterick, ...
Brain 129 (8), 2093-2102, 2006
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
A Jordanova, P De Jonghe, CF Boerkoel, H Takashima, E De Vriendt, ...
Brain 126 (3), 590-597, 2003
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ...
Nature genetics 45 (11), 1399-1404, 2013
Molecular biological characterization of an azole-resistant Candida glabrata isolate
P Marichal, H Vanden Bossche, FC Odds, G Nobels, DW Warnock, ...
Antimicrobial Agents and Chemotherapy 41 (10), 2229-2237, 1997
Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success
V Timmerman, AV Strickland, S Züchner
Genes 5 (1), 13-32, 2014
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
G Kuhlenbäumer, MC Hannibal, E Nelis, A Schirmacher, N Verpoorten, ...
Nature genetics 37 (10), 1044-1046, 2005
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