Smeets, Hubertus Julius Maria

Top Publications

Top Publications Authored or Co-Authored by "Smeets, Hubertus Julius Maria"

• 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
• Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation

  American Journal of Cardiology, Volume 99, No. 2, Year 2007, Citations 74
• Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

  Brain, Volume 136, No. 3, Year 2013, Citations 71
• RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

  Journal of Clinical Investigation, Volume 132, No. 13, Article e145660, Year 2022, Citations 24
• Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation

  Swiss Medical Weekly, Volume 139, No. 7-8, Year 2009, Citations 10