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Neurogenetics|February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalitiesFabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.European Journal of Human Genetics : EJHG|December 15, 2010
NDUFA10 mutations cause complex I deficiency in a patient with Leigh diseaseSaskia J G Hoefs, Francjan J van Spronsen, Ellen W H Lenssen, et al.European Journal of Human Genetics : EJHG|December 2, 2010
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in musclePaulien Smits, Hana Antonicka, Peter M van Hasselt, et al.Nederlands Tijdschrift Voor Geneeskunde|October 13, 2007
[Mucocutaneous manifestations of amyloidosis]L Timmer-de Mik, R I F van der Waal, M R Canninga-van Dijk, et al.Biochimica Et Biophysica Acta|February 18, 2015
Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP productionMohammad T Alam, Ganesh R Manjeri, Richard J Rodenburg, et al.JIMD Reports|July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.Journal of Cancer Research and Clinical Oncology|January 1, 1992
Occurrence of epidermal growth factor receptors in benign and malignant ovarian tumors and normal ovarian tissues: an immunohistochemical studyS C Henzen-Logmans, M E van der Burg, J A Foekens, et al.Metabolomics : Official Journal of the Metabolomic Society|January 13, 2021
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutationKarien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.Genes|May 25, 2024
Mutations in <i>NSUN3</i>, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic NeuropathyCansu de Muijnck, Jacoline B Ten Brink, Hugoline G de Haan, et al.European Journal of Clinical Investigation|March 2, 2006
Increased inflammatory markers in children with familial hypercholesterolaemiaT Ueland, M N Vissers, A Wiegman, et al.Pageof 22