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Plos Genetics|January 4, 2014
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionElena J Tucker, Bas F J Wanschers, Radek Szklarczyk, et al.
Human Molecular Genetics|November 6, 2012
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotoniaRadek Szklarczyk, Bas F J Wanschers, Leo G Nijtmans, et al.
Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Breast Cancer Research and Treatment|May 18, 2011
Epirubicin and paclitaxel with G-CSF support in first line metastatic breast cancer: a randomized phase II study of dose-dense and dose-escalated chemotherapyR I Lalisang, F L G Erdkamp, C J Rodenburg, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
The New England Journal of Medicine|February 7, 2009
Chemotherapy, bevacizumab, and cetuximab in metastatic colorectal cancerJolien Tol, Miriam Koopman, Annemieke Cats, et al.
Human Molecular Genetics|April 12, 2013
CEP89 is required for mitochondrial metabolism and neuronal function in man and flyBregje W M van Bon, Merel A W Oortveld, Leo G Nijtmans, et al.
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