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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Zibold, Julia; Lessard, Lola E R; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andréa; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan; Leblanc, Pascal.
Affiliation
  • Zibold J; Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich, 80336 Munich, Germany.
  • Lessard LER; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Picard F; Service d'Electroneuromyographie et de pathologies neuromusculaires, 69677 Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, France.
  • da Silva LG; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Zadorozhna Y; Johannes Gutenberg University (JGU), Biocenter, Institute of Molecular Physiology, 55128 Mainz, Germany.
  • Streichenberger N; Graduate School of Systemic Neurosciences (GSN), 82152 Planegg-Martinsried, Germany.
  • Belotti E; Center for Anatomy, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Osseni A; Johannes Gutenberg University (JGU), Biocenter, Institute of Molecular Physiology, 55128 Mainz, Germany.
  • Emerit A; International PhD Programme (IPP) of the Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
  • Errazuriz-Cerda E; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Michel-Calemard L; Département d'Anatomo-Pathologie, Groupement Hospitalier Est, Hospices Civils de Lyon, 69677 Lyon, France.
  • Menassa R; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Coudert L; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Wiessner M; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Stucka R; Plateforme d'imagerie CIQLE, 69008 Lyon, France.
  • Klopstock T; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Simonetti F; Service Biochimie et Biologie Moléculaire, Centre de biologie et pathologie Est, Hospices civils de Lyon, 69677 Lyon, France.
  • Hutten S; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Nonaka T; Service Biochimie et Biologie Moléculaire, Centre de biologie et pathologie Est, Hospices civils de Lyon, 69677 Lyon, France.
  • Hasegawa M; Institut NeuroMyoGène-PGNM, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon, 69008 Lyon, France.
  • Strom TM; Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich, 80336 Munich, Germany.
  • Bernard E; Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich, 80336 Munich, Germany.
  • Ollagnon E; Friedrich-Baur Institute at the Department of Neurology, University Hospital, LMU Munich, 80336 Munich, Germany.
  • Urtizberea A; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.
  • Dormann D; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
  • Petiot P; Johannes Gutenberg University (JGU), Biocenter, Institute of Molecular Physiology, 55128 Mainz, Germany.
  • Schaeffer L; Graduate School of Systemic Neurosciences (GSN), 82152 Planegg-Martinsried, Germany.
  • Senderek J; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.
  • Leblanc P; Johannes Gutenberg University (JGU), Biocenter, Institute of Molecular Physiology, 55128 Mainz, Germany.
Brain ; 2023 Dec 11.
Article in En | MEDLINE | ID: mdl-38079474

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Germany

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Brain Year: 2023 Document type: Article Affiliation country: Germany