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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira, Pedro; Schuermans, Nika; Meylemans, Antoon; LeBlanc, Pontus; Versluys, Lauren; Copley, Katie E; Rubien, Jack D; Altheimer, Christopher; Peetermans, Myra; Debackere, Elke; Vanakker, Olivier; Janssens, Sandra; Baets, Jonathan; Verhoeven, Kristof; Lammens, Martin; Symoens, Sofie; De Paepe, Boel; Barmada, Sami J; Shorter, James; De Bleecker, Jan L; Bogaert, Elke; Dermaut, Bart.
Afiliação
  • Ervilha Pereira P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Schuermans N; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Meylemans A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • LeBlanc P; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Versluys L; Department of Neurology, Ghent University Hospital, Ghent, Belgium.
  • Copley KE; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Rubien JD; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Altheimer C; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Peetermans M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Debackere E; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Vanakker O; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Janssens S; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Baets J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
  • Verhoeven K; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA.
  • Lammens M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Symoens S; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • De Paepe B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Barmada SJ; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Shorter J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • De Bleecker JL; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
  • Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Dermaut B; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
Acta Neuropathol ; 145(6): 793-814, 2023 06.
Article em En | MEDLINE | ID: mdl-37000196
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Pick / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Pick / Demência Frontotemporal / Esclerose Lateral Amiotrófica Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Bélgica