He, Langping

Top Publications

Top Publications Authored or Co-Authored by "He, Langping"

• Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

  American Journal of Human Genetics, Volume 93, No. 3, Year 2013, Citations 132
• Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

  Journal of Medical Genetics, Volume 49, No. 9, Year 2012, Citations 109
• Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

  Biochimica et Biophysica Acta - Molecular Basis of Disease, Volume 1842, No. 1, Year 2014, Citations 65
• Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure

  Journal of Pediatrics, Volume 164, No. 3, Year 2014, Citations 42
• Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

  EMBO Molecular Medicine, Volume 12, No. 11, Article e12619, Year 2020, Citations 19