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Page 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
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
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
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
458 results