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@ARTICLE{PetrySchmelzer:892509,
      author       = {Petry-Schmelzer, Jan Niklas and Keller, Natalie and
                      Karakaya, Mert and Wirth, Brunhilde and Fink, Gereon R. and
                      Wunderlich, Gilbert},
      title        = {{VPS}13{D} : {O}ne {F}amily, {S}ame {M}utations, {T}wo
                      {P}henotypes},
      journal      = {Movement disorders clinical practice},
      volume       = {8},
      number       = {5},
      issn         = {2330-1619},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {FZJ-2021-02118},
      pages        = {803-806},
      year         = {2021},
      abstract     = {Here, we report two siblings with compound heterozygous
                      variants in VPS13D but a considerable divergent phenotype
                      highlighting the difficulties of phenotype–genotype
                      correlation in this rare disease.A 19-year-old patient
                      presented to our outpatient department with a five-year
                      history of progressive gait impairment. Motor and cognitive
                      development during childhood was described as normal. The
                      patient visited a regular school and was able to participate
                      in physical education until the onset of symptoms. There
                      were no known neurologic diseases in the Caucasian family,
                      consisting of five sisters (II.1–3, II.5, and II.6), and
                      the patient (II.4). However, one younger sister (II.6) of
                      the patient suffered from developmental delay and
                      intellectual disability without further physical impairment,
                      and the oldest sister (II.1) living separate from the family
                      was supposed to have “gait problems”.},
      cin          = {INM-3},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406},
      pnm          = {525 - Decoding Brain Organization and Dysfunction
                      (POF4-525)},
      pid          = {G:(DE-HGF)POF4-525},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34307758},
      UT           = {WOS:000647076200001},
      doi          = {10.1002/mdc3.13232},
      url          = {https://juser.fz-juelich.de/record/892509},
}