Morava E - Search Results

1

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. Am J Med Genet A. 2006. PMID: 16532470

2

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: morava e. Biochem Biophys Res Commun. 1999 Nov 19;265(2):339-44. doi: 10.1006/bbrc.1999.1662. Biochem Biophys Res Commun. 1999. PMID: 10558868

3

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA. Engelke UF, et al. Among authors: morava e. Clin Chem. 2004 Jan;50(1):58-66. doi: 10.1373/clinchem.2003.020214. Epub 2003 Nov 18. Clin Chem. 2004. PMID: 14633929

4

Tall stature and progressive overweight in mitochondrial encephalopathy.

Morava E, Hol FA, Janssen A, Smeitink J. Morava E, et al. J Inherit Metab Dis. 2003;26(7):720-2. doi: 10.1023/b:boli.0000005647.71704.25. J Inherit Metab Dis. 2003. PMID: 14707524

5

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Morava E, et al. Eur J Pediatr. 2004 Aug;163(8):467-71. doi: 10.1007/s00431-004-1465-2. Epub 2004 May 27. Eur J Pediatr. 2004. PMID: 15168109

6

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Morava E, et al. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616

7

Mitochondrial dysfunction in a patient with Joubert syndrome.

Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Morava E, et al. Neuropediatrics. 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. Neuropediatrics. 2005. PMID: 15944909

8

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Apr 1;140(7):752-6. doi: 10.1002/ajmg.a.31117. Am J Med Genet A. 2006. PMID: 16477654

9

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: morava e. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

10

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Janssen AJ, et al. Among authors: morava e. Clin Chem. 2006 May;52(5):860-71. doi: 10.1373/clinchem.2005.062414. Epub 2006 Mar 16. Clin Chem. 2006. PMID: 16543390 Free article.

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