Zobrazeno 1 - 10
of 929
pro vyhledávání: '"Tizzano, EF"'
Autor:
Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain. Electronic address: irene.valenzuela@vallhebron.cat., Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Vazquez E; Department of Pediatric Radiology, Hospital Vall d'Hebron, Barcelona, Spain., Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Leno-Colorado J; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Masas M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Escobar M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 02, pp. 101288. Date of Electronic Publication: 2024 Oct 02.
Autor:
Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Putoux A; Hospices Civils de Lyon, Service de Génétique, Bron, France; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Ghosh S; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Edery P; Hospices Civils de Lyon, Service de Génétique, Bron, France; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Besson A; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Coubes C; Reference Centre for Rare Disease Developmental Anomaly and Malformative Syndromes, Genetic Clinic Unit, CHU Montpellier, Montpellier, France., Willems M; Reference Centre for Rare Disease Developmental Anomaly and Malformative Syndromes, Genetic Clinic Unit, CHU Montpellier, Montpellier, France., Ruiz-Pallares N; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, CHU Montpellier, Montpellier, France., Barat-Houari M; Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, CHU Montpellier, Montpellier, France., Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA., Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA., Sabbagh Q; Reference Centre for Rare Disease Developmental Anomaly and Malformative Syndromes, Genetic Clinic Unit, CHU Montpellier, Montpellier, France., Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., O'Sullivan J; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Bromley R; Division of Neuroscience, School of Biological Sciences, Faculty of Medicine, Biology and Health, University of Manchester, UK; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Genevieve D; Reference Centre for Rare Disease Developmental Anomaly and Malformative Syndromes, Genetic Clinic Unit, CHU Montpellier, Montpellier, France; Montpellier University, Inserm U1183, Montpellier, France; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA. Electronic address: d-genevieve@chu-montpellier.fr., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct; Vol. 26 (10), pp. 101226. Date of Electronic Publication: 2024 Jul 31.
Autor:
Brown SM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Ajjarapu AS; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Ramachandra D; Department of Genetics, Advocate Children's Hospital, Oak Lawn, Illinois, USA., Blasco-Pérez L; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain., Costa-Roger M; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain., Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep 28. Date of Electronic Publication: 2024 Sep 28.
Autor:
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Sep 26. Date of Electronic Publication: 2024 Sep 26.
Autor:
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, Codina-Solà M, Valenzuela I, Tizzano EF, Atton G, Donnelly D, Foulds N, Jarvis J, McKee S, O'Donoghue M, Suri M, Vasudevan P, Stirrups K, Morgan NP, Freson K, Mumford AD, Turro E
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 04. Date of Electronic Publication: 2024 Sep 04.
Autor:
Totten V; Kaweah Health System, Visalia, California, USA.; Kayenta Health Center of the Indian Health Service, Kayenta, Arizona, USA., Teixido-Tura G; Department of Cardiology, Hospital Universitari Vall d'Hebron, CIBER-CV, Vall d'Hebron institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain., Lopez-Grondona F; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain., Fernandez-Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain., Muñoz-Cabello P; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain., Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan., Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain., Dewals W; Pediatric Cardiology Department, Antwerp University Hospital, Edegem, Belgium., Borràs E; Molecular Genetics Unit, Consorci Sanitari de Terrassa, Terrassa, Spain., Cañas EG; Angiology and Vascular Surgery, Hospital Universitari Parc Tauli, Sabadell, Spain., Almoguera B; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain.; Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Loeys B; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Valenzuena I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain irene.valenzuela@vallhebron.cat.; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Aug 29; Vol. 61 (9), pp. 870-877. Date of Electronic Publication: 2024 Aug 29.
Autor:
Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, Horta-Guinardó, 08035, Barcelona, Spain. Electronic address: eduardo.tizzano@vallhebron.cat., Quijano-Roy S; Garches Neuromuscular Reference Center, APHP Raymond Poincaré University Hospital (UVSQ Paris Saclay), 104 Bd Raymond Poincaré, 92380, Garches, France., Servais L; Department of Paediatrics, MDUK Oxford Neuromuscular Centre, & NIHR Oxford Biomedical Research, University of Oxford, Headly Way, Headington, OX3 9DU, Oxford, UK; Department of Pediatrics, Neuromuscular Reference Center, University and University Hospital of Liège, Bât. B35 Département des Sciences Cliniques, Quartier Hôpital, Avenue de l'Hôpital 13, 4000, Liège, Belgium., Parsons JA; Children's Hospital Colorado, University of Colorado School of Medicine, 13001 East 17th Place, Aurora, CO, 80045, USA., Aharoni S; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Kaplan St 14, Petah Tikva, Israel; Faculty of Medical and Health Sciences, Tel-Aviv University, Ramat Aviv, Tel Aviv, Israel., Lakhotia A; University of Louisville, Norton Children's Medical Group, 411 East Chestnut Street, Floor 6, Louisville, KY, 40202, USA., Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN, 38105, USA.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Aug 27; Vol. 53, pp. 18-24. Date of Electronic Publication: 2024 Aug 27.
Autor:
Costa-Roger M; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Blasco-Pérez L; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Gerin L; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Codina-Solà M; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Leno-Colorado J; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Gómez-García De la Banda M; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Garcia-Uzquiano R; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Saugier-Veber P; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Drunat S; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Quijano-Roy S; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France., Tizzano EF; From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2024 Jul 16; Vol. 10 (4), pp. e200175. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).
Autor:
Antolin M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Tarrasó G; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Sánchez MÁ; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Plaja A; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Martínez-Cruz D; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Xunclà M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Castells N; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Carreras E; Maternal-Fetal Medicine Unit, Department of Obstetrics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain., García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Research Institut (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 08041 Barcelona, Spain.
Publikováno v:
Journal of clinical medicine [J Clin Med] 2024 Jul 09; Vol. 13 (14). Date of Electronic Publication: 2024 Jul 09.
Autor:
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany. Electronic address: Janbernd.kirschner@uniklinik-freiburg.de., Bernert G; Neuromuscular Centre, Department of Pediatrics and Adolescent Medicine, Clinic Favoriten, Vienna, Austria., Butoianu N; Pediatric Neurology Clinic, 'Prof. Dr. Al. Obregia' Hospital, Bucharest, Faculty of Medicine and Pharmacy 'Carol Davila', Bucharest, Romania., De Waele L; Department of Pediatric Neurology, University Hospitals Leuven, and Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Fattal-Valevski A; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Faculty of Medicine, Tel Aviv University, Israel., Haberlova J; Dept of Pediatric Neurology, Motol University Hospital, Prague, Czech Republic., Moreno T; Pediatric Neurology Unit, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Klein A; Division of Neuropaediatrics, Development and Rehabilitation, Department of Paediatrics, Inselspital, Bern University Hospital, Bern, Switzerland., Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Poland., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, and Centro Clinico Nemo, Fondazione Policlinico Gemelli IRCCS, Rome, Italy., Quijano-Roy S; Neuromuscular Unit, Child Neurology and ICU Department, Raymond Poincaré University Hospital (UVSQ), APHP Paris Saclay, Garches, France., Sejersen T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong, China., Tizzano EF; Department of Clinical and Molecular Genetics, Medicine Genetics Group, University Hospital Vall d'Hebron, Barcelona, Spain., van der Pol WL; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, the Netherlands., Wallace S; Department of Clinical Neurosciences for Children and Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway., Zafeiriou D; 1st Department of Pediatrics, «Hippokratio» General Hospital, Aristotle University, Thessaloniki, Greece., Ziegler A; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Germany., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre, Great Ormond Street Hospital for Children, London, UK., Servais L; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jul; Vol. 51, pp. 73-78. Date of Electronic Publication: 2024 Jun 08.