Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 621 citations

Life Sciences, Genetics, Molecular Biology +14

Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett et al. · Neurology · 2002 · 572 citations

Medicine, Child Health, Pediatrics +8

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

David Dimmock, Q. Zhang, Carlo Dionisi‐Vici et al. · Human Mutation · 2008 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

Ann Saada, Avraham Shaag, Orly Elpeleg · Molecular Genetics and Metabolism · 2003 · 95 citations

Life Sciences, Genetics, Molecular Biology +16

Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

C. Barthélémy, Hélène Ogier de Baulny, Jorge Diaz et al. · Annals of Neurology · 2001 · 93 citations

Life Sciences, Genetics, Molecular Biology +17