Publications

Leegwater PAJ, Yuan BQ, van der Steen J, Mulders J, Könst AAM, Boor PKI, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS. Mutations in MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-838

Leegwater PAJ, Vermeulen G, Könst AAM, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CGM, Richard J.L.F. Lemmers RJLF, Frants RR, Oudejans CBM, Schutgens RBH, Pronk JC, van der Knaap MS. Subunits of the translation initiation factor eIF2B are mutated in leukoencephalopathy with vanishing white matter. Nature Genet 2001; 29: 383-388

Van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol 2006; 5: 413-423

Scheper GC, van der Klok T, van Andel RJ, van Berkel CGM, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JAM, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genet 2007; 39: 534-539

Scheper GC, van der Knaap MS, Proud CG. Translation matters: inherited diseases that affect protein synthesis. Nature Rev Genet 2007; 8: 711-723