Alston, Charlotte L.

Top Publications

Top Publications Authored or Co-Authored by "Alston, Charlotte L."

• A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

  Human Mutation, Volume 32, No. 11, Year 2011, Citations 157
• 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
• Urine heteroplasmy is the best predictor of clinical outcome in the m.3243a>g MTDNA mutation

  Neurology, Volume 72, No. 6, Year 2009, Citations 94
• 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
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47