Zeviani, Massimo

Top Publications

Top Publications Authored or Co-Authored by "Zeviani, Massimo"

• Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

  American Journal of Human Genetics, Volume 81, No. 2, Year 2007, Citations 353
• Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

  American Journal of Human Genetics, Volume 93, No. 3, Year 2013, Citations 141
• Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

  American Journal of Human Genetics, Volume 91, No. 6, Year 2012, Citations 127
• Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

  American Journal of Human Genetics, Volume 108, No. 12, Year 2021, Citations 40
• Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

  Saudi Journal of Gastroenterology, Volume 18, No. 4, Year 2012, Citations 22