Vincent Timmerman

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina Mersiyanova, M. Muglia et al. · Nature Genetics · 2004 · 1.5K citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mitochondrial Function +9

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 810 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +8

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 598 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 581 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Medicine +7

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

Constantin d’Ydewalle, Jyothsna Krishnan, Driss M Chiheb et al. · Nature Medicine · 2011 · 458 citations · Full text

Signal Transduction, Hdac6 Inhibitors, Signaling Pathway +11