A. Jacobs

发表

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

W. Robberecht, A. Kochański, V. Timmerman, 2007, Brain : a journal of neurology.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

C. van Broeckhoven, W. Robberecht, J. Theuns, 2007, Human mutation.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, B. Schlotter-Weigel, 2010, American journal of human genetics.

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

N. Lévy, V. Timmerman, J. Weis, 2009, Brain : a journal of neurology.

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV

Lieven Lagae, Kristl G. Claeys, Liesbet Deprez, 2006, Neuromuscular Disorders.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

H. Brunner, H. van Bokhoven, B. Hamel, 2002, American journal of medical genetics.

Peripheral blood chromosome aberrations in MDS.

A. D. White, A. Jacobs, 1992, Cancer genetics and cytogenetics.

Neuro-cognitive and behavioural aspects in non-specific mental retardation. A proposal for phenotyping new XLMR genes.

V. Buret, M. Gomot, A. Jacobs, 2002, Genetic counseling.

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT

J. Lupski, P. Callaerts, V. Timmerman, 2012, Amino Acids.

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

H. Hartung, D. Fitzpatrick, N. Verpoorten, 2003, American journal of human genetics.

Synaptopodin and 4 novel genes identified in primary sensory neurons

W. Robberecht, S. Serneels, D. Huylebroeck, 2005, Molecular and Cellular Neuroscience.

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.

D. Huylebroeck, N. Verpoorten, K. Verhoeven, 2003, American journal of human genetics.

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

C. Broeckhoven, W. Robberecht, J. Vandekerckhove, 2004, Nature Genetics.

Isochromosome (6p) in Waldenstrom's macroglobulinemia.

A. D. White, R. Clark, A. Jacobs, 1992, Cancer genetics and cytogenetics.

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

J. Martín, K. Verhoeven, V. Timmerman, 2004, Neurology.

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

B. D. de Vries, B. Oostra, D. Halley, 2003, Journal of medical genetics.

Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis

B. Oostra, A. Smits, R. Willemsen, 2003, Journal of medical genetics.

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.

V. Timmerman, P. de Jonghe, A. Jordanova, 2003, American journal of human genetics.

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

J. Thevelein, W. Robberecht, P. Callaerts, 2006, Nature Genetics.

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy

T. Godenschwege, K. Norga, P. Callaerts, 2009, Proceedings of the National Academy of Sciences.

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics.

B. D. de Vries, D. Halley, L. Severijnen, 2003, Journal of medical genetics.

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy

K. Norga, P. Callaerts, V. Timmerman, 2009, Proceedings of the National Academy of Sciences.

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

T. Hornemann, Anke Penno, W. Löscher, 2010, American journal of human genetics.