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@ARTICLE{Minnerop:188411,
      author       = {Minnerop, Martina and Bauer, Peter},
      title        = {{A}utosomal {R}ecessive {C}erebellar {A}taxia 3 {D}ue to
                      {H}omozygote c.132dup{A} {M}utation {W}ithin the {ANO}10
                      {G}ene.},
      journal      = {JAMA neurology},
      volume       = {72},
      number       = {2},
      issn         = {2168-6149},
      address      = {Chicago, Ill.},
      publisher    = {American Medical Association},
      reportid     = {FZJ-2015-01809},
      pages        = {238 -239},
      year         = {2015},
      abstract     = {With great interest we read the article by Renaud et al1
                      reporting a case series of 9 patients with autosomal
                      recessive cerebellar ataxia type 3 due to ANO10 mutations.
                      The authors discussed the previously reported c.132dupA
                      mutation with a heterozygote carrier frequency of 1/184 and
                      postulated that the homozygote state of this mutation would
                      either have a more severe phenotype or not be viable at
                      all.},
      cin          = {INM-1},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-1-20090406},
      pnm          = {571 - Connectivity and Activity (POF3-571)},
      pid          = {G:(DE-HGF)POF3-571},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25664549},
      UT           = {WOS:000349619200022},
      doi          = {10.1001/jamaneurol.2014.3918},
      url          = {https://juser.fz-juelich.de/record/188411},
}