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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone, Nastasia; Moula, Melissa; Baelde, Rianne J; Biquand, Ariane; Villanova, Marcello; Metay, Corinne; Fiorillo, Chiara; Baratto, Serena; Merlini, Luciano; Sabatelli, Patrizia; Romero, Norma B; Relaix, Frederic; Authier, François Jérôme; Taglietti, Valentina; Savarese, Marco; de Winter, Josine; Ottenheijm, Coen; Richard, Isabelle; Malfatti, Edoardo.
  • Cardone N; Univ Paris-Est Créteil, INSERM, U955 IMRB, F-94010, Créteil, France.
  • Moula M; Univ Paris-Est Créteil, INSERM, U955 IMRB, F-94010, Créteil, France.
  • Baelde RJ; Amsterdam UMC location Vrije Universiteit Amsterdam, Physiology, De Boelelaan 1117, Amsterdam, Netherlands.
  • Biquand A; Genethon, 91000, Evry, France.
  • Villanova M; Neuromuscular Unit, Presidio Ospedaliero Accreditato Villa Bellombra, Bologna, Italy.
  • Metay C; Unité Fonctionnelle de Cardiogénétique et Myogénétique moléculaire et cellulaire. Centre de Génétique Moléculaire et Chromosomique et INSERM UMRS 974, Institut de Myologie. Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Paris, INSERM UMRS1166, Sorbonne Université, Paris, France.
  • Fiorillo C; Neurologia Pediatrica e Malattie Muscolari, Istituto G.Gaslini, Genoa, Italy.
  • Baratto S; Neurologia Pediatrica e Malattie Muscolari, Istituto G.Gaslini, Genoa, Italy.
  • Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126, Bologna, Italy.
  • Sabatelli P; CNR, Institute of Molecular Genetics "Luigi Luca Cavalli Sforza" -Unit of Bologna, Bologna, Italy.
  • Romero NB; IRCCS-Istituto Ortopedico Rizzoli, Bologna, Italy.
  • Relaix F; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, Paris, France.
  • Authier FJ; Univ Paris-Est Créteil, INSERM, U955 IMRB, F-94010, Créteil, France.
  • Taglietti V; Univ Paris-Est Créteil, INSERM, U955 IMRB, F-94010, Créteil, France.
  • Savarese M; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, Créteil, France.
  • de Winter J; Univ Paris-Est Créteil, INSERM, U955 IMRB, F-94010, Créteil, France.
  • Ottenheijm C; Folkhälsan Research Center, Helsinki, Finland.
  • Richard I; Amsterdam UMC location Vrije Universiteit Amsterdam, Physiology, De Boelelaan 1117, Amsterdam, Netherlands.
  • Malfatti E; Amsterdam UMC location Vrije Universiteit Amsterdam, Physiology, De Boelelaan 1117, Amsterdam, Netherlands.
Acta Neuropathol Commun ; 11(1): 48, 2023 03 21.
Article en En | MEDLINE | ID: mdl-36945066
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Músculo Esquelético / Enfermedades Musculares Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Músculo Esquelético / Enfermedades Musculares Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article