Joanna Poulton

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe et al. · Autophagy · 2016 · 5.9K citations · Full text

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 879 citations

Mitochondrial Biogenesis, Mitochondrial Function, Mitochondrial Dynamic +8

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Neil Howell, Laurence A. Bindoff, D A McCullough et al. · PubMed · 1991 · 399 citations

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger et al. · Nature Genetics · 2010 · 248 citations

Mendelian Disorder, Identifies Acad9 Mutations, Genetic Disorder +8

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Henna Tyynismaa, Hiroshi Sembongi, Monika Bokori-Brown et al. · Human Molecular Genetics · 2004 · 240 citations · Full text