Charlotte L. Alston

Overview

Best Publications

• Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

  Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez

  922
  Citations

• The genetics and pathology of mitochondrial disease

  Charlotte L Alston;Mariana C Rocha;Nichola Z Lax;Doug M Turnbull

  446
  Citations

• Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

  Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely

  402
  Citations

• Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

  Brendan J. Floyd;Emily M. Wilkerson;Mike T. Veling;Mike T. Veling;Catie E. Minogue

  299
  Citations

• Recent Advances in Mitochondrial Disease

  Lyndsey Craven;Charlotte L. Alston;Robert W. Taylor;Doug M. Turnbull

  242
  Citations

• mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

  John P Grady;Sarah J Pickett;Yi Shiau Ng;Charlotte L Alston;Charlotte L Alston

  232
  Citations

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

  John W. Yarham;Mazhor Al-Dosary;Emma L. Blakely;Charlotte L. Alston

  199
  Citations

• Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

  Gerald Pfeffer;Gráinne S Gorman;Helen Griffin;Marzena Kurzawa-Akanbi

  185
  Citations

• Recent advances in understanding the molecular genetic basis of mitochondrial disease.

  Kyle Thompson;Jack J. Collier;Ruth I. C. Glasgow;Fiona M. Robertson

  134
  Citations

• Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

  CL Alston;JE Davison;JE Davison;F Meloni;van, der, Westhuizen, Fh;van, der, Westhuizen, Fh

  131
  Citations

• Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

  Kyle Thompson;Homa Majd;Christina Dallabona;Karit Reinson;Karit Reinson

  127
  Citations

• Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

  Tobias B Haack;Christopher Jackson;Kei Murayama;Laura S Kremer

  127
  Citations

• Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

  R. G. Whittaker;J. K. Blackwood;C. L. Alston;E. L. Blakely

  118
  Citations

• Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

  Metodi D. Metodiev;Kyle Thompson;Charlotte L. Alston;Andrew A.M. Morris;Andrew A.M. Morris

  105
  Citations

• LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

  Monika Oláhová;Steven A. Hardy;Julie Hall;John W. Yarham

  104
  Citations

• TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

  Christopher A. Powell;Robert Kopajtich;Aaron R. D’Souza;Joanna Rorbach

  102
  Citations

• Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

  Robert D. S. Pitceathly;Conrad Smith;Carl Fratter;Charlotte L. Alston

  99
  Citations

• The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

  Helen A. L. Tuppen;Vanessa E. Hogan;Langping He;Emma L. Blakely

  96
  Citations

• Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

  Uwe Ahting;Johannes A. Mayr;Arnaud V. Vanlander;Steven A. Hardy

  94
  Citations

• Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

  Mika H. Martikainen;Mika H. Martikainen;Yi Shiau Ng;Gráinne S. Gorman;Charlotte L. Alston

  94
  Citations