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SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
Phan, Vietxuan; Cox, Dan; Cipriani, Silvia; Spendiff, Sally; Buchkremer, Stephan; O'Connor, Emily; Horvath, Rita; Goebel, Hans Hilmar; Hathazi, Denisa; Lochmüller, Hanns; Straka, Tatjana; Rudolf, Rüdiger; Weis, Joachim; Roos, Andreas.
Afiliação
  • Phan V; Leibniz-Institut für Analytische Wissenschaften, ISAS, e.V. Dortmund, 44227, Dortmund, Germany. Electronic address: vietxuan.phan@isas.de.
  • Cox D; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address: dan.cox@nnewcastle.ac.uk.
  • Cipriani S; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Department of Neuromotor and Biomedical Sciences, Pathology Unit, University of Bologna, Bologna, Italy. Electronic address: silvia.cipriani5@studio.unibo.it.
  • Spendiff S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. Electronic address: SSpendiff@cheo.on.ca.
  • Buchkremer S; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, 52074, Germany. Electronic address: sbuchkremer@ukacchen.de.
  • O'Connor E; MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address: emily.o'connor@newcastle.ac.uk.
  • Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. Electronic address: rita.horvath@doctors.org.uk.
  • Goebel HH; Department of Neuropathology, Charité Berlin, Germany. Electronic address: hans-hilmar.goebel@charite.de.
  • Hathazi D; Leibniz-Institut für Analytische Wissenschaften, ISAS, e.V. Dortmund, 44227, Dortmund, Germany. Electronic address: denisa.hathazi@isas.de.
  • Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ott
  • Straka T; Institute of Molecular and Cell Biology, Mannheim University of Applied Sciences, Mannheim, Germany; Interdisciplinary Center for Neurosciences, Heidelberg University, Heidelberg, Germany; Institute of Toxicology and Genetics, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany. Ele
  • Rudolf R; Institute of Molecular and Cell Biology, Mannheim University of Applied Sciences, Mannheim, Germany; Interdisciplinary Center for Neurosciences, Heidelberg University, Heidelberg, Germany; Institute of Toxicology and Genetics, Karlsruhe Institute of Technology, Eggenstein-Leopoldshafen, Germany. Ele
  • Weis J; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, 52074, Germany. Electronic address: jweis@ukaachen.de.
  • Roos A; Leibniz-Institut für Analytische Wissenschaften, ISAS, e.V. Dortmund, 44227, Dortmund, Germany; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, 52074, Germany; Pediatric Neurology, University Childrens Hospital, University of Duisburg-Essen, Faculty of Medicine, Essen, Germany.
Neurobiol Dis ; 124: 218-229, 2019 04.
Article em En | MEDLINE | ID: mdl-30468864
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Isquiático / Degenerações Espinocerebelares / Fatores de Troca do Nucleotídeo Guanina / Junção Neuromuscular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neurobiol Dis Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Nervo Isquiático / Degenerações Espinocerebelares / Fatores de Troca do Nucleotídeo Guanina / Junção Neuromuscular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neurobiol Dis Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de publicação: Estados Unidos