Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes

A new mathematical model for relative quantification in real-time RT-PCR

Michael W. Pfaffl · Nucleic Acids Research · 2001 · 34.9K citations · Full text

Life Sciences, Molecular Biology, Gene Expression +12

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 900 citations

Life Sciences, Genetics, Molecular Genetics +17

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 585 citations

Life Sciences, Genetics, Molecular Genetics +11

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 474 citations

Life Sciences, Genetics, Molecular Genetics +15

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

L. He · Nucleic Acids Research · 2002 · 330 citations · Full text

Life Sciences, Genetics, Molecular Biology +16