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  • Hélène Puccio, Delphine Simon, +7 authors Michel Koenig
  • Medicine, Biology
  • Nature Genetics
  • 2001 (First Publication: 1 February 2001)
  • Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy and increased incidenceExpand
  • Patrick J. Pollard, Jean Briére, +18 authors Ian P. M. Tomlinson
  • Biology, Medicine
  • Human molecular genetics
  • 2005 (First Publication: 1 August 2005)
  • The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations in FH predispose individuals toExpand
  • Katherine A Janeway, Su Young Kim, +18 authors Constantine A Stratakis
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences
  • 2010 (First Publication: 20 December 2010)
  • Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinateExpand