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@ARTICLE{Traschtz:1007199,
      author       = {Traschütz, Andreas and Adarmes-Gomez, Astrid D. and
                      Anheim, Mathieu and Baets, Jonathan and Falkenburger, Björn
                      H. and Gburek-Augustat, Janina and Doss, Sarah and Kamm,
                      Christoph and Klivenyi, Peter and Grobe-Einsler, Marcus and
                      Klopstock, Thomas and Minnerop, Martina and Münchau,
                      Alexander and Pane, Chiara and Renaud, Mathilde and
                      Santorelli, Filippo M. and Schöls, Ludger and Timmann,
                      Dagmar and Vielhaber, Stefan and Haack, Tobias B. and van de
                      Warrenburg, Bart P. and Zanni, Ginevra and Synofzik,
                      Matthis},
      title        = {{A}utosomal {R}ecessive {C}erebellar {A}taxias in {E}urope:
                      {F}requency, {O}nset, and {S}everity in 677 {P}atients},
      journal      = {Movement disorders},
      volume       = {38},
      number       = {6},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {FZJ-2023-01978},
      pages        = {1109-1112},
      year         = {2023},
      abstract     = {Progress in next-generation sequencing has led to an
                      explosion of novel genes and phenotypes of autosomal
                      recessive cerebellar ataxias (ARCAs) in the last decade,
                      with >170 recessive conditions manifesting with ataxia
                      identified.1 With large-scale natural history and
                      mechanistic treatment trials on the horizon for many ARCAs,
                      up-to-date knowledge is required not only on relative
                      frequencies but also on real-world age and disease severity
                      distributions as key information for trial design planning
                      and recruitment. In this multicenter study, we provide data
                      on the relative frequency of ARCAs in Europe, delineate the
                      spectrum of age at disease onset, and present real-world
                      data on disease severity distributions of patients with ARCA
                      that help to inform future trial planning.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5251},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {37027459},
      UT           = {WOS:000989750000001},
      doi          = {10.1002/mds.29397},
      url          = {https://juser.fz-juelich.de/record/1007199},
}