Jan A.M. Smeitink - Selected publications#

Koopman W, Willems P, Smeitink J, Mechanisms of Disease: Monogenic Mitochondrial Disorders. N Engl J Med, March 2012 F 53.2

Smeitink J. Metabolism, gliomas, and IDH1. N Engl J Med. 2010 Mar 25;362(12):1144-5. IF 53.2

Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap, MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede, FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15;330(6002):336. IF 31.2

Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W. Inactivating PAPSS2 mutations in a patient with premature pubarche. N Engl J Med. 2009 May 28;360(22):2310-8. Erratum in: N Engl J Med. 2009 Jul 9;361(2):217. IF 53.2

Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. (2007) Mitochondrial aspartyl-tRNA synthetase deficiency causesleukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genetics. 39(4):534-9. IF 35.5

Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, Newbold RF, Trijbels FJ, van den Heuvel LP, Shoubridge EA, Smeitink JA. (2004) Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. New Engl J Med. 351 (20):2080-2086. IF 53.2

J Smeitink, LP van den Heuvel, S DiMauro. (2001)The genetics and pathology of oxidative phosphorylation. Nature Review Genet 2(5): 342- 352. IF 38.0

M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, S Stockler-Ipsiroglu, L van den Heuvel.(1999) Mutant NDUFV1 subunit of mitochondrial complex i causes leukodystrophy and myoclonic epilepsy. Nature Genetics 21:260-261. IF 35.5

K Brinkman, J Smeitink, JA Romijn, P Reiss. (1999) Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy related lipodystrophy. Lancet 354:1046-1047. IF 38.2