270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.

Autor: Abiusi E; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy, Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Bertini ES; Research Unit of Neuromuscular Disease, Bambino Gesu’ Children's Hospital, IRCCS, Roma, Italy, Tiziano FD; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy; Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Abiusi E; Section of Genomic Medicine, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, Roma, Italy, Baranello G; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK, Bertini E; Italy, Research Unit of Neuromuscular Disease, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy, Boemer F; Biochemical Genetics Lab, Department of Human Genetics, University Hospital, University of Liège, 4000 Liège, Belgium, Burghes A; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA, Codina-Solà M; Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium, Costa-Roger M; Department of Neurology & Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands, Dangouloff T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland, Groen E; Department of Neurology, Medical University of Warsaw, Warsaw, Poland, Gos M; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany, Jędrzejowska M; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands, Kirschner J; Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany, Lemmink HH; AFM Téléthon, Évry, France; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy, Müller-Felber W; Pediatric Neuromuscular Unit (NEIDF Reference Center at FILNEMUS & Euro-NMD), Child Neurology Department, Raymond Poincaré Hospital (UVSQ), APHP Université Paris Saclay, Garches France, Ouillade MC; Fundacja SMA, Warsaw, Poland; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy, Quijano-Roy S; Univ Rouen Normandie, Inserm U1245, Normandie Univ and CHU Rouen, Department of Genetics and Nord/Est/Ile de France Neuromuscular Reference Center, F-76000 Rouen, France, Rucinski K; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Saugier-Veber P; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany, Tiziano FD; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy, Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain, Wirth B; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 114-122. Date of Electronic Publication: 2023 Dec 14.