Peter De Jonghe
Peter De Jonghe
VIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute Born
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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
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, ...
The American Journal of Human Genetics 68 (6), 1327-1332, 2001
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
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
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene …
I Gijselinck, T Van Langenhove, J van der Zee, K Sleegers, S Philtjens, ...
The Lancet Neurology 11 (1), 54-65, 2012
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
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ...
Annals of neurology 71 (1), 15-25, 2012
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
E Nelis, C Van Broeckhoven, P De Jonghe, A Löfgren, A Vandenberghe, ...
European Journal of Human Genetics 4 (1), 25-33, 1996
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
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ...
Brain 133 (1), 23-32, 2010
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
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
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
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
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 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
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