Rudy Van Coster

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson et al. · Nature Genetics · 1999 · 571 citations

Life Sciences, Genetics, Molecular Genetics +10

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 453 citations

Life Sciences, Neurology, Neuroscience +17

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

Vanessa A. Morais, Patrik Verstreken, Anne Roethig et al. · EMBO Molecular Medicine · 2009 · 433 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The Yeast Genome Directory

A Goffeau, R. Aert, M. L. Agostini-Carbone et al. · Nature · 1997 · 413 citations

Life Sciences, Genetics, Microbiology +12