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Neuromuscular Disorders : NMD|October 16, 2004
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) geneVincenza Fetoni, Egill Briem, Franco Carrara, et al.
Molecular Genetics and Metabolism|July 11, 2006
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentationMaja Di Rocco, Ubaldo Caruso, Egill Briem, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patientsRudy G E van Eijsden, Mike Gerards, Lars M T Eijssen, et al.
American Journal of Human Genetics|September 24, 2004
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolAlessandro Achilli, Chiara Rengo, Chiara Magri, et al.
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