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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. Loeffen J, et al. Among authors: sengers r. Am J Hum Genet. 1998 Dec;63(6):1598-608. doi: 10.1086/302154. Am J Hum Genet. 1998. PMID: 9837812 Free PMC article.
Human NADH:ubiquinone oxidoreductase.
Smeitink J, Sengers R, Trijbels F, van den Heuvel L. Smeitink J, et al. Among authors: sengers r. J Bioenerg Biomembr. 2001 Jun;33(3):259-66. doi: 10.1023/a:1010743321800. J Bioenerg Biomembr. 2001. PMID: 11695836
Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies.
Bentlage HA, Janssen AJ, Chomyn A, Attardi G, Walker JE, Schägger H, Sengers RC, Trijbels FJ. Bentlage HA, et al. Among authors: sengers rc. Biochim Biophys Acta. 1995 Mar 8;1234(1):63-73. doi: 10.1016/0005-2736(94)00288-z. Biochim Biophys Acta. 1995. PMID: 7533543 Free article.
188 results