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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler, Anna-Lena; Sacconi, Sabrina; Bach, J Elisa; Liebe, Claus; Bürmann, Jan; Kley, Rudolf A; Ferbert, Andreas; Anderheiden, Roland; Van den Bergh, Peter; Martin, Jean-Jacques; De Jonghe, Peter; Neuen-Jacob, Eva; Müller, Oliver; Deschauer, Marcus; Bergmann, Markus; Schröder, J Michael; Vorgerd, Matthias; Schulz, Jörg B; Weis, Joachim; Kress, Wolfram; Claeys, Kristl G.
Afiliação
  • Semmler AL; Department of Neurology, RWTH Aachen University, Aachen, Germany. anna.semmler@rwth-aachen.de.
  • Sacconi S; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany. anna.semmler@rwth-aachen.de.
  • Bach JE; Centre de Référence des Maladies Neuromusculaires, Nice Hospital and UMR CNRS6543, Nice University, Nice, France. Sacconi.S@chu-nice.fr.
  • Liebe C; Department of Human Genetics, University of Würzburg, Würzburg, Germany. elisa.bach@uni-wuerzburg.de.
  • Bürmann J; Department of Neurology, RWTH Aachen University, Aachen, Germany. claus.liebe@rwth-aachen.de.
  • Kley RA; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany. claus.liebe@rwth-aachen.de.
  • Ferbert A; Department of Neurology, Saarland University, Homburg/Saar, Germany. jan.buermann@uks.eu.
  • Anderheiden R; Department of Neurology, Neuromuscular Center Ruhrgebiet, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany. rudolf.kley@rub.de.
  • Van den Bergh P; Department of Neurology, Klinikum Kassel, Kassel, Germany. ferbert@klinikum-kassel.de.
  • Martin JJ; Department of Neurology, Klinikum Merzig, Merzig, Germany. r.anderheiden@mzg.shg-kliniken.de.
  • De Jonghe P; Department of Neurology, Neuromuscular Reference Center, University Hospital Saint-Luc, Brussel, Belgium. Peter.Vandenbergh@uclouvain.be.
  • Neuen-Jacob E; Institute Born-Bunge, University of Antwerpen, Antwerpen, Belgium. jean-jacques.martin@ua.ac.be.
  • Müller O; Institute Born-Bunge, University of Antwerpen, Antwerpen, Belgium. peter.dejonghe@molgen.vib-ua.be.
  • Deschauer M; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerpen, Antwerpen, Belgium. peter.dejonghe@molgen.vib-ua.be.
  • Bergmann M; Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium. peter.dejonghe@molgen.vib-ua.be.
  • Schröder JM; Institute of Neuropathology, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany. Neuen-Jacob@med.uni-duesseldorf.de.
  • Vorgerd M; Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, Heidelberg, Germany. Oliver.Mueller@med.uni-heidelberg.de.
  • Schulz JB; DZHK (German Centre for Cardiovascular Research), partner site Heidelberg, Heidelberg, Germany. Oliver.Mueller@med.uni-heidelberg.de.
  • Weis J; Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle, Germany. marcus.deschauer@uk-halle.de.
  • Kress W; Institute of Neuropathology, Klinikum Bremen-Mitte, Bremen, Germany. Markus.Bergmann@Klinikum-Bremen-Mitte.de.
  • Claeys KG; Institute of Neuropathology, RWTH Aachen University, Aachen, Germany. jmschroder@ukaachen.de.
Orphanet J Rare Dis ; 9: 121, 2014 Aug 01.
Article em En | MEDLINE | ID: mdl-25208129
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Proteínas Adaptadoras de Transdução de Sinal / Proteínas Reguladoras de Apoptose / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Proteínas Adaptadoras de Transdução de Sinal / Proteínas Reguladoras de Apoptose / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article