Morava E - Search Results

1

Early cardiac involvement in children carrying the A3243G mtDNA mutation.

Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: morava e. Acta Paediatr. 2007 Mar;96(3):450-1. doi: 10.1111/j.1651-2227.2006.00158.x. Acta Paediatr. 2007. PMID: 17407476

2

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. van de Glind G, et al. Among authors: morava e. Eur J Paediatr Neurol. 2007 Jul;11(4):243-6. doi: 10.1016/j.ejpn.2007.01.004. Epub 2007 Feb 12. Eur J Paediatr Neurol. 2007. PMID: 17293137

3

Mitochondrial disease criteria: diagnostic applications in children.

Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Morava E, et al. Neurology. 2006 Nov 28;67(10):1823-6. doi: 10.1212/01.wnl.0000244435.27645.54. Neurology. 2006. PMID: 17130416

4

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

5

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

6

Dietary intervention and oxidative phosphorylation capacity.

Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Morava E, et al. J Inherit Metab Dis. 2006 Aug;29(4):589. doi: 10.1007/s10545-006-0227-x. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786255

7

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. de Vries MC, et al. Among authors: morava e. Eur J Pediatr. 2007 Mar;166(3):229-34. doi: 10.1007/s00431-006-0234-9. Epub 2006 Sep 7. Eur J Pediatr. 2007. PMID: 16957900

8

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J. Morava E, et al. Am J Med Genet A. 2006 Oct 15;140(20):2248-50. doi: 10.1002/ajmg.a.31452. Am J Med Genet A. 2006. PMID: 16969869 No abstract available.

9

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: morava e. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

10

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: morava e. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156

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