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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: van spronsen fj, van engelen bg, van der knaap ms, van den heuvel lp. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232
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: van den heuvel lp. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
Coenen MJ, van den Heuvel LP, Ugalde C, Ten Brinke M, Nijtmans LG, Trijbels FJ, Beblo S, Maier EM, Muntau AC, Smeitink JA. Coenen MJ, et al. Among authors: van den heuvel lp. Ann Neurol. 2004 Oct;56(4):560-4. doi: 10.1002/ana.20229. Ann Neurol. 2004. PMID: 15455402
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: van engelen bg, van den heuvel lp. 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.
Mitochondrial energy production correlates with the age-related BMI.
Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Wortmann SB, et al. Among authors: van den heuvel lp. Pediatr Res. 2009 Jan;65(1):103-8. doi: 10.1203/PDR.0b013e31818d1c8a. Pediatr Res. 2009. PMID: 19096353
389 results