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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: trijbels fj. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232
Human NADH:ubiquinone oxidoreductase.
Smeitink J, Sengers R, Trijbels F, van den Heuvel L. Smeitink J, et al. J Bioenerg Biomembr. 2001 Jun;33(3):259-66. doi: 10.1023/a:1010743321800. J Bioenerg Biomembr. 2001. PMID: 11695836
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, Ruitenbeek W, Trijbels FJ, Valsson J, Sigfusson G, Palmieri F, Smeitink JA. Jordens EZ, et al. Among authors: trijbels fj. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053
126 results