Jan C. Pronk

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 · 450 citations

Amyotrophic Lateral Sclerosis, Mitochondrial Function, Neurological Disorder +13

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Jerome R. Lo Ten Foe, Martin A. Rooimans, Lucine Bosnoyan-Collins et al. · Nature Genetics · 1996 · 416 citations

Natural Sciences, Genetics, Expression Cloning +7

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst et al. · Nature Genetics · 2001 · 412 citations

Translational Biology, Disease Mechanism, White Matter +6

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst et al. · Annals of Neurology · 2001 · 380 citations

The Fanconi anaemia group G gene FANCG is identical with XRCC9

Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans et al. · Nature Genetics · 1998 · 355 citations

Allelic Variant, Genetic Disorder, Genetics +8