Vincent Timmerman

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)¹

Daniel J. Klionsky, Amal Kamal Abdel‐Aziz, Sara Abdelfatah et al. · Autophagy · 2021 · 2.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

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 · 1.6K citations · Full text

Life Sciences, Genetics, Neurology +11

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 · 812 citations · Full text

Life Sciences, Neurology, Neuroscience +12

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 · 599 citations

Medicine, Genetics, Molecular Genetics +12

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 · 584 citations · Full text

Medicine, Neurology, Neuroscience +14