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@ARTICLE{Reetz:1043578,
      author       = {Reetz, Kathrin and Lischewski, Stella A and Dogan, Imis and
                      Didszun, Claire and Pishnamaz, Miguel and Konrad, Kerstin
                      and Marx-Schütt, Katharina and Farmer, Jennifer and Lynch,
                      David R and Corben, Louise A and Pandolfo, Massimo and
                      Schulz, Jörg B and Costa, Ana Sofia and Romanzetti, Sandro
                      and Dadsena, Ravi and Praster, Maximillian and Clavel,
                      Thomas and Jankowski, Vera and Jankowski, Joachim and Pabst,
                      Oliver and Marx, Nikolaus and Möllmann, Julia and Jacobsen,
                      Malte and Dukart, Juergen and Eickhoff, Simon and Hilgers,
                      Ralf-Dieter},
      title        = {{F}riedreich's ataxia—a rare multisystem disease},
      journal      = {The lancet},
      volume       = {24},
      number       = {7},
      issn         = {1474-4422},
      address      = {London},
      publisher    = {Lancet Publ. Group},
      reportid     = {FZJ-2025-02935},
      pages        = {614 - 624},
      year         = {2025},
      abstract     = {Friedreich's ataxia is a rare autosomal recessive
                      neurodegenerative disease. Most patients have a homozygous
                      GAA repeat expansion in the FXN gene, resulting in a
                      deficiency of the mitochondrial protein frataxin. Disease
                      onset occurs typically in adolescence but can vary widely,
                      ranging from early childhood to late adulthood. Friedreich's
                      ataxia is increasingly recognised as a multisystem disorder,
                      affecting not only the nervous system, but also the heart
                      and musculoskeletal system, and metabolism. Common
                      extraneural manifestations include cardiomyopathy, which is
                      the most common cause of mortality, and also scoliosis and
                      diabetes. Despite research advances, the phenotypical
                      heterogeneity of patients with Friedrich's ataxia remains
                      inadequately explained by current knowledge of the
                      underlying genetics. The approval of omaveloxolone by the US
                      Food and Drug Administration and the European Medicines
                      Agency has been a pharmacological milestone; however,
                      further research addressing complex interorgan interactions
                      is crucial for a better understanding of the multisystem
                      nature of Friedreich's ataxia and the development of
                      targeted treatment approaches.},
      cin          = {INM-7 / INM-11},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-7-20090406 / I:(DE-Juel1)INM-11-20170113},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5251},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {40541211},
      UT           = {WOS:001520810300012},
      doi          = {10.1016/S1474-4422(25)00175-9},
      url          = {https://juser.fz-juelich.de/record/1043578},
}