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Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Mencacci, Niccolò E; Brockmann, Marisa M; Dai, Jinye; Pajusalu, Sander; Atasu, Burcu; Campos, Joaquin; Pino, Gabriela; Gonzalez-Latapi, Paulina; Patzke, Christopher; Schwake, Michael; Tucci, Arianna; Pittman, Alan; Simon-Sanchez, Javier; Carvill, Gemma L; Balint, Bettina; Wiethoff, Sarah; Warner, Thomas T; Papandreou, Apostolos; Soo, Audrey; Rein, Reet; Kadastik-Eerme, Liis; Puusepp, Sanna; Reinson, Karit; Tomberg, Tiiu; Hanagasi, Hasmet; Gasser, Thomas; Bhatia, Kailash P; Kurian, Manju A; Lohmann, Ebba; Õunap, Katrin; Rosenmund, Christian; Südhof, Thomas C; Wood, Nicholas W; Krainc, Dimitri; Acuna, Claudio.
Afiliação
  • Mencacci NE; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Brockmann MM; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Dai J; Institute of Neurophysiology, Charité Universitätsmedizin, Berlin, Germany.
  • Pajusalu S; Department of Cellular and Molecular Physiology and Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA.
  • Atasu B; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Campos J; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Pino G; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.
  • Gonzalez-Latapi P; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
  • Patzke C; Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Schwake M; Chica and Heinz Schaller Foundation, Institute of Anatomy and Cell Biology, and.
  • Tucci A; Chica and Heinz Schaller Foundation, Institute of Anatomy and Cell Biology, and.
  • Pittman A; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Simon-Sanchez J; Department of Cellular and Molecular Physiology and Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA.
  • Carvill GL; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Wiethoff S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Warner TT; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.
  • Papandreou A; Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Soo A; Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Rein R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Kadastik-Eerme L; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
  • Puusepp S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Reinson K; Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Tomberg T; Klinik für Neurologie mit Institut für Translationale Neurologie, Albert Schweitzer Campus 1, Gebäude A1, Münster, Germany.
  • Hanagasi H; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Gasser T; Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Bhatia KP; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, United Kingdom.
  • Kurian MA; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Lohmann E; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, United Kingdom.
  • Õunap K; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Rosenmund C; Children's Clinic.
  • Südhof TC; Department of Neurology and Neurosurgery.
  • Wood NW; Neurology Clinic, and.
  • Krainc D; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Acuna C; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
J Clin Invest ; 131(7)2021 04 01.
Article em En | MEDLINE | ID: mdl-33539324
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células de Purkinje / Transmissão Sináptica / Sinalização do Cálcio / Mutação de Sentido Incorreto / Distúrbios Distônicos / Dendritos / Proteínas Adaptadoras de Transdução de Sinal / Alelos Limite: Animals / Female / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células de Purkinje / Transmissão Sináptica / Sinalização do Cálcio / Mutação de Sentido Incorreto / Distúrbios Distônicos / Dendritos / Proteínas Adaptadoras de Transdução de Sinal / Alelos Limite: Animals / Female / Humans / Male Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos