Morava E - Search Results

1

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

2

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

3

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.

4

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

Wortmann SB, Rodenburg R, Schwahn B, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: morava e. Genet Couns. 2007;18(1):119-23. Genet Couns. 2007. PMID: 17515308

5

Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system.

Pillen S, Morava E, Van Keimpema M, Ter Laak HJ, De Vries MC, Rodenburg RJ, Zwarts MJ. Pillen S, et al. Among authors: morava e. Neuropediatrics. 2006 Jun;37(3):142-7. doi: 10.1055/s-2006-924512. Neuropediatrics. 2006. PMID: 16967365 Free article.

6

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

7

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

8

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

9

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.

10

Females with PDHA1 gene mutations: a diagnostic challenge.

Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Willemsen M, et al. Among authors: morava e. Mitochondrion. 2006 Jun;6(3):155-9. doi: 10.1016/j.mito.2006.03.001. Epub 2006 May 19. Mitochondrion. 2006. PMID: 16713755

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