Tinne Ooms

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

Ivan Litvinenko, Bob Asselbergh, Le­onardo Almeida-Souza et al. · The American Journal of Human Genetics · 2013 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Jonathan Baets, Le­onardo Almeida-Souza, Els De Vriendt et al. · Nature Genetics · 2012 · 129 citations

Life Sciences, Neurology, Neuroscience +12

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

Erik Storkebaum, Ricardo Leitão-Gonçalves, Tanja A. Godenschwege et al. · Proceedings of the National Academy of Sciences · 2009 · 105 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

Derek Atkinson, J. Nikodinović Glumac, Bob Asselbergh et al. · Neurology · 2017 · 72 citations · Full text

Medicine, Genetics, Neurology +17

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves et al. · Neurobiology of Disease · 2014 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6