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@ARTICLE{Coarelli:140892,
      author       = {Coarelli, Giulia and Schule, Rebecca and van de Warrenburg,
                      Bart P C and De Jonghe, Peter and Ewenczyk, Claire and
                      Martinuzzi, Andrea and Synofzik, Matthis and Hamer, Elisa G
                      and Baets, Jonathan and Anheim, Mathieu and Schöls, Ludger
                      and Deconinck, Tine and Masrori, Pegah and Fontaine,
                      Bertrand and Klockgether, Thomas and D'Angelo, Maria Grazia
                      and Monin, Marie-Lorraine and De Bleecker, Jan and Migeotte,
                      Isabelle and Charles, Perrine and Bassi, Maria Teresa and
                      Klopstock, Thomas and Mochel, Fanny and Ollagnon-Roman,
                      Elisabeth and D'Hooghe, Marc and Kamm, Christoph and
                      Kurzwelly, Delia and Papin, Melanie and Davoine,
                      Claire-Sophie and Banneau, Guillaume and Tezenas du Montcel,
                      Sophie and Seilhean, Danielle and Brice, Alexis and
                      Duyckaerts, Charles and Stevanin, Giovanni and Durr,
                      Alexandra},
      title        = {{L}oss of paraplegin drives spasticity rather than ataxia
                      in a cohort of 241 patients with {SPG}7.},
      journal      = {Neurology},
      volume       = {92},
      number       = {23},
      issn         = {0028-3878},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DZNE-2020-07214},
      pages        = {e2679-e2690},
      year         = {2019},
      abstract     = {Loss of paraplegin drives spasticity rather than ataxia in
                      a cohort of 241 patients with SPG7.},
      keywords     = {White People: genetics / ATPases Associated with Diverse
                      Cellular Activities: genetics / Adult / Cerebellar Ataxia:
                      genetics / Cerebellar Ataxia: physiopathology / Cohort
                      Studies / Electromyography / European Continental Ancestry
                      Group: genetics / Female / Humans / Loss of Function
                      Mutation / Magnetic Resonance Imaging / Male /
                      Metalloendopeptidases: genetics / Middle Aged / Paraplegia:
                      genetics / Paraplegia: physiopathology / Phenotype /
                      Polymorphism, Single Nucleotide / Spastic Paraplegia,
                      Hereditary: genetics / Spastic Paraplegia, Hereditary:
                      physiopathology / Young Adult / Metalloendopeptidases (NLM
                      Chemicals) / SPG7 protein, human (NLM Chemicals) / ATPases
                      Associated with Diverse Cellular Activities (NLM Chemicals)},
      cin          = {AG Maetzler / AG Gasser 1 / AG Schöls 1 / Patient studies,
                      Bonn / Clinical Dementia Research München},
      ddc          = {610},
      cid          = {I:(DE-2719)5000024 / I:(DE-2719)1210000 /
                      I:(DE-2719)5000005 / I:(DE-2719)1011101 /
                      I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 345 -
                      Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31068484},
      pmc          = {pmc:PMC6556095},
      doi          = {10.1212/WNL.0000000000007606},
      url          = {https://pub.dzne.de/record/140892},
}