Morava E - Search Results

1

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Among authors: morava e. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.

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

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Kosztolányi G. Kárteszi J, et al. Among authors: morava e. Orv Hetil. 2004 Apr 25;145(17):909-11. Orv Hetil. 2004. PMID: 15170968 Hungarian.

7

Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients.

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Tészás A, Kosztolányi G. Kárteszi J, et al. Among authors: morava e. Am J Med Genet A. 2004 Nov 15;131(1):106. doi: 10.1002/ajmg.a.30218. Am J Med Genet A. 2004. PMID: 15389714 No abstract available.

8

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

9

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

10

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Morava E, et al. J Inherit Metab Dis. 2005;28(5):703-6. doi: 10.1007/s10545-005-0095-9. J Inherit Metab Dis. 2005. PMID: 16151901

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