Barth, Magalie

Top Publications

Top Publications Authored or Co-Authored by "Barth, Magalie"

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 81
• TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

  Nature Communications, Volume 14, No. 1, Article 1009, Year 2023, Citations 41
• Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

  Brain Communications, Volume 3, No. 2, Article fcab063, Year 2021, Citations 37
• Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

  Journal of Inherited Metabolic Disease, Volume 33, No. SUPPL. 3, Year 2010, Citations 25