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Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Roth, Fanny; Dhiab, Jamila; Boulinguiez, Alexis; Mouigni, Hadidja-Rose; Lassche, Saskia; Negroni, Elisa; Muraine, Laura; Marhic, Alix; Oliver, Alison; Lainé, Jeanne; Rouche, Andrée; O'Ferrall, Erin K; van Engelen, Baziel; Ottenheijm, Coen; Greif, Hagar; Blumen, Sergiu; Lacau St Guily, Jean; Perie, Sophie; Butler-Browne, Gillian; Mouly, Vincent; Trollet, Capucine.
Afiliação
  • Roth F; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Dhiab J; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Boulinguiez A; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Mouigni HR; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Lassche S; Department of Physiology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
  • Negroni E; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Muraine L; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Marhic A; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Oliver A; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Lainé J; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Rouche A; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • O'Ferrall EK; Department of Neurology and Neurosurgery, McGill University, Montréal, Canada.
  • van Engelen B; Department of Pathology, Montreal Neurological Institute and Hospital, McGill University, Montréal, Canada.
  • Ottenheijm C; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Greif H; Department of Physiology, Amsterdam University Medical Center, Amsterdam, The Netherlands.
  • Blumen S; BioBlast-Pharma Ltd., Tel-Aviv, Israel.
  • Lacau St Guily J; Department of Neurology, Hadera and Rappaport Faculty of Medicine, Hillel Yaffe Medical Center, The Technion, 1 Efron Street, 31096, Haifa, Israel.
  • Perie S; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
  • Butler-Browne G; Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine and Sorbonne, Université, Tenon Hospital, APHP, Paris, France.
  • Mouly V; Department of Otolaryngology-Head and Neck Surgery, Rothschild Foundation Hospital and Sorbonne University, Paris, France.
  • Trollet C; Myology Center for Research, U974, Sorbonne Université, INSERM, AIM, GH Pitie Salpetrière Bat Babinski, 47 bd de l'Hopital, 75013, Paris, France.
Acta Neuropathol ; 144(6): 1157-1170, 2022 12.
Article em En | MEDLINE | ID: mdl-36197469
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França