Smeitink JA - Search Results

1

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: smeitink ja. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713

2

Maturation of mitochondrial and other isoenzymes of creatine kinase in skeletal muscle of preterm born infants.

Smeitink J, Ruitenbeek W, van Lith T, Sengers R, Trijbels F, Wevers R, Sperl W, de Graaf R. Smeitink J, et al. Ann Clin Biochem. 1992 May;29 ( Pt 3):302-6. doi: 10.1177/000456329202900309. Ann Clin Biochem. 1992. PMID: 1319128

3

Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism.

Wyss M, Smeitink J, Wevers RA, Wallimann T. Wyss M, et al. Biochim Biophys Acta. 1992 Sep 25;1102(2):119-66. doi: 10.1016/0005-2728(92)90096-k. Biochim Biophys Acta. 1992. PMID: 1390823 Review. No abstract available.

4

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.

Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F. Smeitink J, et al. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

5

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

6

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: smeitink ja. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

7

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

van den Heuvel LP, Luiten B, Smeitink JA, de Rijk-van Andel JF, Hyland K, Steenbergen-Spanjers GC, Janssen RJ, Wevers RA. van den Heuvel LP, et al. Among authors: smeitink ja. Hum Genet. 1998 Jun;102(6):644-6. doi: 10.1007/s004390050756. Hum Genet. 1998. PMID: 9703425

8

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

Wevers RA, de Rijk-van Andel JF, Bräutigam C, Geurtz B, van den Heuvel LP, Steenbergen-Spanjers GC, Smeitink JA, Hoffmann GF, Gabreëls FJ. Wevers RA, et al. Among authors: smeitink ja. J Inherit Metab Dis. 1999 Jun;22(4):364-73. doi: 10.1023/a:1005539803576. J Inherit Metab Dis. 1999. PMID: 10407773 Review.

9

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

Grünewald S, Huyben K, de Jong JG, Smeitink JA, Rubio E, Boers GH, Conradt HS, Wendel U, Wevers RA. Grünewald S, et al. Among authors: smeitink ja. Biochim Biophys Acta. 1999 Sep 20;1455(1):54-60. doi: 10.1016/s0925-4439(99)00078-2. Biochim Biophys Acta. 1999. PMID: 10524229 Free article.

10

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. Coenen MJ, et al. Among authors: smeitink ja. Biochem Biophys Res Commun. 1999 Nov 19;265(2):339-44. doi: 10.1006/bbrc.1999.1662. Biochem Biophys Res Commun. 1999. PMID: 10558868

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