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Neuromuscular Disorders : NMD|April 20, 2012
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation loadKieren G Hollingsworth, Grainne S Gorman, Michael I Trenell, et al.
Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.
Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Diabetes|June 28, 2002
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genomeAlan T W Choo-Kang, Stephen Lynn, Geoffrey A Taylor, et al.
Mitochondrion|March 19, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, et al.
Medrxiv : the Preprint Server for Health Sciences|January 30, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.
Investigative Ophthalmology & Visual Science|March 4, 2009
Quality of life in patients with leber hereditary optic neuropathyMatthew Anthony Kirkman, Alex Korsten, Miriam Leonhardt, et al.
Annals of Neurology|March 30, 2004
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert McFarland, Andrew M Schaefer, Julie L Gardner, et al.
Neurobiology of Aging|May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very oldJoanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.
Frontiers in Neurology|December 18, 2023
Case report: Mutations in <i>DNAJC30</i> causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individualsToby Charles Major, Eszter Sara Arany, Katherine Schon, et al.
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