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Ben Yaou R, Yun P, Dabaj I, et al. International retrospective natural history study of . Brain Commun. 2021;3(3):fcab075doi: 10.1093/braincomms/fcab075.
Ben Yaou, R., Yun, P., Dabaj, I., Norato, G., Donkervoort, S., Xiong, H., Nascimento, A., Maggi, L., Sarkozy, A., Monges, S., Bertoli, M., Komaki, H., Mayer, M., Mercuri, E., Zanoteli, E., Castiglioni, C., Marini-Bettolo, C., D'Amico, A., Deconinck, N., Desguerre, I., Erazo-Torricelli, R., Gurgel-Giannetti, J., Ishiyama, A., Kleinsteuber, K. S., Lagrue, E., Laugel, V., Mercier, S., Messina, S., Politano, L., Ryan, M. M., Sabouraud, P., Schara, U., Siciliano, G., Vercelli, L., Voit, T., Yoon, G., Alvarez, R., Muntoni, F., Pierson, T. M., Gómez-Andrés, D., Reghan Foley, A., Quijano-Roy, S., Bönnemann, C. G., & Bonne, G. (2021). International retrospective natural history study of . Brain communications, 3(3), fcab075. https://doi.org/10.1093/braincomms/fcab075
Ben Yaou, Rabah, et al. "International retrospective natural history study of ." Brain communications vol. 3,3 (2021): fcab075. doi: https://doi.org/10.1093/braincomms/fcab075
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. International retrospective natural history study of . Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. PMID: 34240052; PMCID: PMC8260964.
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Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul.

International retrospective natural history study of .

Brain communications

Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, Andrés Nascimento, Lorenzo Maggi, Anna Sarkozy, Soledad Monges, Marta Bertoli, Hirofumi Komaki, Michèle Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini-Bettolo, Adele D'Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel-Giannetti, Akihiko Ishiyama, Karin S Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler M Pierson, David Gómez-Andrés, A Reghan Foley, Susana Quijano-Roy, Carsten G Bönnemann, Gisèle Bonne

Affiliations

  1. Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
  2. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France.
  3. Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  4. APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France.
  5. INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France.
  6. Department of Pediatrics, Peking University First Hospital, Beijing, China.
  7. Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, CIBERER - ISC III, Barcelona, Spain.
  8. Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
  9. Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, London, UK.
  10. Servicio de Neurología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
  11. Northern Genetics Service, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  12. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
  13. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Department of Neuropediatrics, Hôpital Armand Trousseau, Paris, France.
  14. Paediatric Neurology, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
  15. Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  16. Pediatric Neurology Department, Clínica Las Condes, Santiago, Chile.
  17. John Walton Muscular Dystrophy Research Centre, Institute of Integrated Laboratory Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
  18. Unit of Muscular and Neurodegenerative diseases, Department of Neurological and Psychiatric science,s Bambino Gesù Children's Hospital, Rome, Italy.
  19. Paediatric Neurology Department and neuromuscular Center, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  20. APHP-Centre - Université de Paris, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Necker-Enfants Malades Hospital, Paris, France.
  21. Neurología Pediátrica, Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Clínica Alemana de Santiago, Santiago, Chile.
  22. Department of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
  23. Neurología Pediátrica Hospital Roberto del Río- Universidad de Chile - Clínica Las Condes Santiago, Chile.
  24. CHRU de Tours, Université François Rabelais de Tours, INSERM U1253, Tours, France.
  25. Department of neuropediatrics, CHU Strasbourg- Hautepierre, Strasbourg, France.
  26. Service de Génétique médicale, INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du Thorax, Nantes, France.
  27. Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  28. Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy.
  29. Children's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia.
  30. Service de Pédiatrie A, Neurologie pédiatrique, CHU de Reims, American Memorial Hospital, Reims, France.
  31. Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.
  32. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  33. Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy.
  34. National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
  35. Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  36. Congenital Muscle Disease International Registry (CMDIR), Cure CMD, Lakewood, CA, USA.
  37. Departments of Pediatrics and Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  38. Pediatric Neurology (ERN-RND - EURO-NMD), Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
  39. INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), France.
  40. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS France, ERN-Euro-NMD, Paris, France.

PMID: 34240052 PMCID: PMC8260964 DOI: 10.1093/braincomms/fcab075

Abstract

Muscular dystrophies due to heterozygous pathogenic variants in

© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

Keywords: LMNA; early onset; laminopathies; muscular dystrophy; striated muscle

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