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Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

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Title: Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Authors: Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Pitié-Salpêtrière Hospital, Sorbonne Université, APHP, Paris 75013, France., Gitiaux C; Clinical Neurophysiology Unit, Neuromuscular Diseases Reference Centre, Necker Enfants Malades Hospital, APHP, Paris 75015, France., Thiele S; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich D-80336, Germany., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 9RT, UK., Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, Warsaw 02-019, Poland., Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK., Davion JB; Reference Centre for Neuromuscular Diseases Nord/Est/Ile-de-France, CHU Lille, Lille 59000, France., Morís G; Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitario Central de Asturias, Oviedo 33011, Spain., Gallardo E; Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona 08041, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28029, Spain., Olivé M; Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona 08041, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28029, Spain., de Fuenmayor-Fernández de la Hoz CP; Department of Neurology, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28041, Spain., Audic F; Neuropaediatric Department, Neuromuscular Diseases Reference Centre PACARARE, Timone Children's Hospital, APHM, Marseille 13005, France., Isapof A; Neuropaediatric Department, Neuromuscular Diseases Reference Centre, Armand Trousseau Hospital, APHP, Paris 75012, France., Walter MC; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich D-80336, Germany., Angelini C; Department of Neurosciences, University of Padua, Padua 35128, Italy., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome 00146, Italy., Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Centre for Translational Neuro- and Behavioural Sciences, University of Duisburg-Essen, Essen D-45147, Germany., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven and Leuven Brain Institute (LBI), Leuven 3000, Belgium., Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, Uniklinik Aachen, Aachen 52074, Germany., Dembele M; AFM-Téléthon, Évry-Courcouronnes 91002, France., Fer F; MYOdata Plateforme, Myology Institute, Paris 75013, France., Brochier G; Neuromuscular Morphology Unit, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France., Evangelista T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Pitié-Salpêtrière Hospital, Sorbonne Université, APHP, Paris 75013, France.; Neuromuscular Morphology Unit, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France., Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw 02-019, Poland., Attarian S; Neuromuscular Diseases and ALS Reference Centre, FILNEMUS, CHU La Timone, APHM, Marseille 13005, France., Straub V; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK., Domínguez-González C; Department of Neurology, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28041, Spain., Vissing J; Copenhagen Neuromuscular Centre, Rigshospitalet Copenhagen University Hospital, Copenhagen DK-2100, Denmark., Richard P; APHP, DMU BioGeMH-Sorbonne Université, Functional Unit of Molecular and Cellular Cardiogenetics and Myogenetics, Genetic Center of Pitié-Salpêtrière, INSERM UMRS 1166, Pitié-Salpêtrière Hospital, Paris 75013, France., Metay C; Molecular and Cellular Cardiogenetics and Myogenetics Functional Unit, INSERM UMRS 974, Myology Institute, Pitié-Salpêtrière Hospital, APHP, Sorbonne Université, Paris 75013, France., Khraiche D; Paediatric Cardiology Department, Necker-Enfants Malades Hospital, APHP, Paris 75015, France., Wahbi K; Université Paris Cité, Imagine, Paris Cardiomyopathy Center Associated Laboratory, Paris 75015, France.; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence des maladies Neuromusculaires Nord-Est-Ile de France, Paris Cité Université, Paris 75006, France., Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Pitié-Salpêtrière Hospital, Sorbonne Université, APHP, Paris 75013, France.
Source: Brain : a journal of neurology [Brain] 2025 Dec 04; Vol. 148 (12), pp. 4435-4447.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Fernández-Eulate+G%22">Fernández-Eulate G</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Pitié-Salpêtrière Hospital, Sorbonne Université, APHP, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Gitiaux+C%22">Gitiaux C</searchLink>; Clinical Neurophysiology Unit, Neuromuscular Diseases Reference Centre, Necker Enfants Malades Hospital, APHP, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Thiele+S%22">Thiele S</searchLink>; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich D-80336, Germany.<br /><searchLink fieldCode="AU" term="%22Jungbluth+H%22">Jungbluth H</searchLink>; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 9RT, UK.<br /><searchLink fieldCode="AU" term="%22Potulska-Chromik+A%22">Potulska-Chromik A</searchLink>; Department of Neurology, Medical University of Warsaw, Warsaw 02-019, Poland.<br /><searchLink fieldCode="AU" term="%22Marini-Bettolo+C%22">Marini-Bettolo C</searchLink>; The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne NE1 3BZ, UK.<br /><searchLink fieldCode="AU" term="%22Davion+JB%22">Davion JB</searchLink>; Reference Centre for Neuromuscular Diseases Nord/Est/Ile-de-France, CHU Lille, Lille 59000, France.<br /><searchLink fieldCode="AU" term="%22Morís+G%22">Morís G</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitario Central de Asturias, Oviedo 33011, Spain.<br /><searchLink fieldCode="AU" term="%22Gallardo+E%22">Gallardo E</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona 08041, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28029, Spain.<br /><searchLink fieldCode="AU" term="%22Olivé+M%22">Olivé M</searchLink>; Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Barcelona 08041, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28029, Spain.<br /><searchLink fieldCode="AU" term="%22de+Fuenmayor-Fernández+de+la+Hoz+CP%22">de Fuenmayor-Fernández de la Hoz CP</searchLink>; Department of Neurology, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28041, Spain.<br /><searchLink fieldCode="AU" term="%22Audic+F%22">Audic F</searchLink>; Neuropaediatric Department, Neuromuscular Diseases Reference Centre PACARARE, Timone Children's Hospital, APHM, Marseille 13005, France.<br /><searchLink fieldCode="AU" term="%22Isapof+A%22">Isapof A</searchLink>; Neuropaediatric Department, Neuromuscular Diseases Reference Centre, Armand Trousseau Hospital, APHP, Paris 75012, France.<br /><searchLink fieldCode="AU" term="%22Walter+MC%22">Walter MC</searchLink>; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich, Munich D-80336, Germany.<br /><searchLink fieldCode="AU" term="%22Angelini+C%22">Angelini C</searchLink>; Department of Neurosciences, University of Padua, Padua 35128, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+E%22">Bertini E</searchLink>; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome 00146, Italy.<br /><searchLink fieldCode="AU" term="%22Schara-Schmidt+U%22">Schara-Schmidt U</searchLink>; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Centre for Translational Neuro- and Behavioural Sciences, University of Duisburg-Essen, Essen D-45147, Germany.<br /><searchLink fieldCode="AU" term="%22Claeys+KG%22">Claeys KG</searchLink>; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven and Leuven Brain Institute (LBI), Leuven 3000, Belgium.<br /><searchLink fieldCode="AU" term="%22Dohrn+MF%22">Dohrn MF</searchLink>; Department of Neurology, Medical Faculty of the RWTH Aachen University, Uniklinik Aachen, Aachen 52074, Germany.<br /><searchLink fieldCode="AU" term="%22Dembele+M%22">Dembele M</searchLink>; AFM-Téléthon, Évry-Courcouronnes 91002, France.<br /><searchLink fieldCode="AU" term="%22Fer+F%22">Fer F</searchLink>; MYOdata Plateforme, Myology Institute, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Brochier+G%22">Brochier G</searchLink>; Neuromuscular Morphology Unit, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Evangelista+T%22">Evangelista T</searchLink>; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Pitié-Salpêtrière Hospital, Sorbonne Université, APHP, Paris 75013, France.; Neuromuscular Morphology Unit, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Kostera-Pruszczyk+A%22">Kostera-Pruszczyk A</searchLink>; 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APHP, DMU BioGeMH-Sorbonne Université, Functional Unit of Molecular and Cellular Cardiogenetics and Myogenetics, Genetic Center of Pitié-Salpêtrière, INSERM UMRS 1166, Pitié-Salpêtrière Hospital, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Metay+C%22">Metay C</searchLink>; Molecular and Cellular Cardiogenetics and Myogenetics Functional Unit, INSERM UMRS 974, Myology Institute, Pitié-Salpêtrière Hospital, APHP, Sorbonne Université, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Khraiche+D%22">Khraiche D</searchLink>; Paediatric Cardiology Department, Necker-Enfants Malades Hospital, APHP, Paris 75015, France.<br /><searchLink fieldCode="AU" term="%22Wahbi+K%22">Wahbi K</searchLink>; Université Paris Cité, Imagine, Paris Cardiomyopathy Center Associated Laboratory, Paris 75015, France.; APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence des maladies Neuromusculaires Nord-Est-Ile de France, Paris Cité Université, Paris 75006, France.<br /><searchLink fieldCode="AU" term="%22Stojkovic+T%22">Stojkovic T</searchLink>; 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