Ruud B. H. Schutgens

发表论文 152 篇 · 总被引 8028 次 · h-index 46

代表论文

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter (2001 · Nature Genetics · 被引 423)
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter (2001 · Annals of Neurology · 被引 393)
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts (2001 · The American Journal of Human Genetics · 被引 273)
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase (2001 · Nature Genetics · 被引 158)
Human alkyldihydroxyacetonephosphate synthase deficiency: A new peroxisomal disorder (1994 · Journal of Inherited Metabolic Disease · 被引 122)
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts (1996 · Journal of Inherited Metabolic Disease · 被引 100)