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 · 453 citations

Life Sciences, Neurology, Neuroscience +17

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 · 419 citations

Life Sciences, Molecular Biology, Neuroscience +14

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 · 417 citations

Life Sciences, Genetics, Molecular Genetics +11

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 · 387 citations

Life Sciences, Genetics, Neurology +14

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

Life Sciences, Genetics, Molecular Genetics +5