Wellcome Trust Centre for Mitochondrial Research View Homepage


Ontology type: grid:Nonprofit  | foaf:Organization     


Organization Info

NAME

Wellcome Trust Centre for Mitochondrial Research

HOMEPAGE

http://www.newcastle-mitochondria.com/

ADDRESS

http://www.grid.ac/institutes/grid.450004.5/address-0

Publications in SciGraph latest 20 shown

  • 2019-12 A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts in HUMAN GENOMICS
  • 2019-12 Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement in SCIENTIFIC REPORTS
  • 2019-12 Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions in NATURE COMMUNICATIONS
  • 2019-04 Disease burden of myotonic dystrophy type 1 in JOURNAL OF NEUROLOGY
  • 2018-12 Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells in SCIENTIFIC REPORTS
  • 2018-12 Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo in SCIENTIFIC REPORTS
  • 2018-12 Expanding the clinical phenotype of IARS2-related mitochondrial disease in BMC MEDICAL GENETICS
  • 2018-12 SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy in HUMAN GENETICS
  • 2018-11 Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2018-10 Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease in GENETICS IN MEDICINE
  • 2018-10 SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) in GENETICS IN MEDICINE
  • 2018-10 Diagnosis and Treatment of Mitochondrial Myopathies in NEUROTHERAPEUTICS
  • 2018-08 Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos in NATURE CELL BIOLOGY
  • 2018-02 Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos in NATURE CELL BIOLOGY
  • 2018-01-23 Progress in mitochondrial replacement therapies in NATURE REVIEWS MOLECULAR CELL BIOLOGY
  • 2018-01 Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-12 Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome in BMC MEDICAL GENETICS
  • 2017-12 Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits in NEUROGENETICS
  • 2017-12 Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency in SCIENTIFIC REPORTS
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