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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov.
Afiliación
  • Cunha P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Petit E; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Coutelier M; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Coarelli G; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Mariotti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Faber J; German Center for Neurodegenerative Disease (DZNE), 53127 Bonn, Germany; Department of Neurology, University Hospital of Bonn, 53111 Bonn, Germany.
  • Van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • Damasio J; Neurology Department, Hospital de Santo António, Centro Hospitalar Universitário de Santo António, 4099-001 Porto, Portugal; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
  • Fleszar Z; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany.
  • Tosi M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy.
  • Rocca C; Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, WC1N 3BG London, UK.
  • De Michele G; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy.
  • Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, 52428 Jülich, Germany; Institute of Clinical Neuroscience and Medical Psychology and Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty & University Hospital Düsseldorf, Heinrich-Hein
  • Ewenczyk C; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Santorelli FM; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, 56128 Calambrone, Italy.
  • Heinzmann A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Bird T; University of Washington, Seattle, WA 98195, USA.
  • Amprosi M; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Indelicato E; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Benussi A; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy.
  • Charles P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Stendel C; German Center for Neurodegenerative Disease (DZNE), München, Germany; Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany.
  • Romano S; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy.
  • Scarlato M; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy.
  • Le Ber I; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France.
  • Bassi MT; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy.
  • Serrano M; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain.
  • Schmitz-Hübsch T; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
  • Doss S; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
  • Van Velzen GAJ; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Thomas Q; Department of Clinical Genetics, Dijon University Hospital, 21000 Dijon, France.
  • Trabacca A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy.
  • Ortigoza-Escobar JD; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain.
  • D'Arrigo S; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, 45147 Essen, Germany.
  • Pantaleoni C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Martinuzzi A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy.
  • Besse-Pinot E; Department of Neurology, Clermont-Ferrand University Hospital, 63000 Clermont-Ferrand, France.
  • Marsili L; Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA.
  • Cioffi E; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy.
  • Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy.
  • Giorgetti A; Computational Biomedicine, Institute for Advanced Simulations IAS-5 and Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428 Jülich, Germany; Department of Biotechnology, Università degli Studi di Verona, 37134 Verona, Italy.
  • Moroni I; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Romaniello R; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy.
  • Casali C; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy.
  • Ponger P; Neurology Department, Tel-Aviv Sourasky Medical Center, 6329302 Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel.
  • Casari G; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy.
  • De Bot ST; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands.
  • Ristori G; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy.
  • Blumkin L; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, 5822012 Holon, Israel.
Am J Hum Genet ; 110(7): 1098-1109, 2023 07 06.
Article en En | MEDLINE | ID: mdl-37301203
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos