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1دورية أكاديمية
المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D'Angelo, Carla, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
المساهمون: European Commission, Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Tassoni, Adrian, t Hoen, Peter A.C., Sakellariou, Paraskevi, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Silani, Vincenzo, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
مصطلحات موضوعية: FAIR data, Neuromuscular Diseases, Rare Diseases, Registry, Registry Hub
وصف الملف: application/pdf
العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC//947598; Centro de Biotecnología y Genómica de Plantas (CBGP); Publisher's version; https://doi.org/10.1186/s13023-024-03059-3Test; Sí; Orphanet Journal of Rare Diseases 19(1): e66 (2024); http://hdl.handle.net/10261/349941Test; 2-s2.0-85185334453; https://api.elsevier.com/content/abstract/scopus_id/85185334453Test
الإتاحة: https://doi.org/10.1186/s13023-024-03059-3Test
http://hdl.handle.net/10261/349941Test
https://api.elsevier.com/content/abstract/scopus_id/85185334453Test -
2دورية أكاديمية
المؤلفون: Kirschner, Janbernd, Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Moreno, Teresa, Klein, Andrea, Kostera-Pruszczyk, Anna, Mercuri, Eugenio, Quijano‐Roy, Susana, Sejersen, Thomas, Tizzano, Eduardo F., Pol, Ludo van der, Wallace, Sean, Zafeiriou, Dimitrios, Ziegler, Andreas, Muntoni, Francesco, Servais, Laurent
المصدر: European journal of paediatric neurology. - 51 (2024) , 73-78, ISSN: 1090-3798
وصف الملف: pdf
الإتاحة: https://doi.org/10.1016/j.ejpn.2024.06.001Test
https://freidok.uni-freiburg.de/data/251398Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2513989Test
https://freidok.uni-freiburg.de/dnb/download/251398Test -
3دورية أكاديمية
المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, G J, de Visser, Marianne, Claeys, Kristl, G, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark, D, Lochmuller, Hanns, Evangelista, Teresinha
المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), Radboud University Medical Center Nijmegen, Children's hospital of Eastern Ontario Research Institute Ottawa, canada (CHEO), World Duchenne Organization (WDO), Duchenne Data Foundation (DDF), European Reference Network for Rare Neuromuscular Diseases EURO-NMD (EURO-NMD), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical Neurosciences Cambridge, University of Cambridge UK (CAM), Azienda Ospedaliera Universitaria Pisana, Erasmus University Medical Center Rotterdam (Erasmus MC), Universitätsklinikum Bonn (UKB), Instituto Neurologico C. Besta, Association française contre les myopathies (AFM-Téléthon), European Patient Organisation for Dysimmune and Inflammatory Neuropathies (EPODIN), University Hospital Motol Prague, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Amsterdam UMC - Amsterdam University Medical Center, University Hospitals Leuven Leuven, Hospital Universitario Virgen del Rocío Sevilla, University of Messina, epartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, ALS Liga Belgium, Hôpital La Colombière Montpellier, World Duchenne Organisation (WDO), Centro de Biotechnologia y Genomica de Plantas (UPM-INIA) and ETSI Agronomos, Universidad Politécnica de Madrid (UPM), EU 3rd Health Programme and three leading patient organisations, World Duchenne Organisation, Duchenne Data Foundation and AFMTéléthon (Grant agreement 947598)
المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-04460667Test ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.66. ⟨10.1186/s13023-024-03059-3⟩.
مصطلحات موضوعية: Neuromuscular Diseases, Registry, EURO-NMD, European Reference Network, FAIR DATA, Registry Hub, Patient centered outcome, Registry Registry Hub Neuromuscular Diseases Rare Diseases FAIR data, Rare Diseases, [SDV]Life Sciences [q-bio], [INFO.INFO-DB]Computer Science [cs]/Databases [cs.DB], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]
العلاقة: hal-04460667; https://hal.sorbonne-universite.fr/hal-04460667Test; https://hal.sorbonne-universite.fr/hal-04460667/documentTest; https://hal.sorbonne-universite.fr/hal-04460667/file/Atalaia_et_al-2024-Orphanet_Journal_of_Rare_Diseases.pdfTest
الإتاحة: https://doi.org/10.1186/s13023-024-03059-3Test
https://hal.sorbonne-universite.fr/hal-04460667Test
https://hal.sorbonne-universite.fr/hal-04460667/documentTest
https://hal.sorbonne-universite.fr/hal-04460667/file/Atalaia_et_al-2024-Orphanet_Journal_of_Rare_Diseases.pdfTest -
4دورية أكاديمية
المؤلفون: Bernert, Günther, Butoianu, Nina, De Waele, Liesbeth, Fattal-Valevski, Aviva, Haberlova, Jana, Kirschner, Janbernd, TIZZANO, EDUARDO F.
المساهمون: Institut Català de la Salut, Kirschner J Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Faculty of Medicine, Freiburg, Germany. 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. Tizzano EF Àrea de Genètica Clínica i Molecular, Grup de Recerca de Medicina Genètica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: Teràpia genètica, Atròfia muscular espinal - Tractament, Decisió de grup, PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal, Other subheadings::Other subheadings::/therapy, PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::psicología social::procesos de grupo::consenso, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal, Otros calificadores::Otros calificadores::/terapia
وصف الملف: application/pdf
العلاقة: European Journal of Paediatric Neurology;51; https://doi.org/10.1016/j.ejpn.2024.06.001Test; Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, et al. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2024 Jun 8;51:73–8.; https://hdl.handle.net/11351/11610Test
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5دورية أكاديمية
المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G.J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
المصدر: Atalaia , A , Wandrei , D , Lalout , N , Thompson , R , Tassoni , A , ’t Hoen , P A C , Athanasiou , D , Baker , S A , Sakellariou , P , Paliouras , G , D’Angelo , C , Horvath , R , Mancuso , M , van der Beek , N , Kornblum , C , Kirschner , J , Pareyson , D , Bassez , G , Blacas , L , Jacoupy , M , Eng , C , Lamy , F , Plançon , J P , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13023-024-03059-3Test
https://pure.eur.nl/en/publications/642b6e77-d411-4db6-80d2-fcee824578c6Test
https://pure.eur.nl/ws/files/137031875/s13023-024-03059-3.pdfTest
http://www.scopus.com/inward/record.url?scp=85185334453&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke G.J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
المصدر: Atalaia , A , Wandrei , D , Lalout , N , Thompson , R , Tassoni , A , ’t Hoen , P A C , Athanasiou , D , Baker , S A , Sakellariou , P , Paliouras , G , D’Angelo , C , Horvath , R , Mancuso , M , van der Beek , N , Kornblum , C , Kirschner , J , Pareyson , D , Bassez , G , Blacas , L , Jacoupy , M , Eng , C , Lamy , F , Plançon , J P , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13023-024-03059-3Test
https://pure.eur.nl/en/publications/642b6e77-d411-4db6-80d2-fcee824578c6Test
https://pure.eur.nl/ws/files/137031875/s13023-024-03059-3.pdfTest
http://www.scopus.com/inward/record.url?scp=85185334453&partnerID=8YFLogxKTest -
7دورية أكاديمية
المؤلفون: Dang, Utkarsh, Damsker, Jesse, Guglieri, Michela, Clemens, Paula, Perlman, Seth, Smith, Edward, Horrocks, Iain, Finkel, Richard, Mah, Jean, Deconinck, Nicolas, Goemans, Nathalie, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin, Harper, Amy, Shieh, Perry, De Waele, Liesbeth, Castro, Diana, Yang, Michele, Ryan, Monique, Tulinius, Mar, Webster, Richard, Mcmillan, Hugh, Kuntz, Nancy, Rao, Vamshi, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie, Selby, Kathryn, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan, Nascimento-Osorio, Andres, Niks, Erik, De Groot, Imelda, Katsalouli, Marina, Van Den Anker, John, Ward, Leanne, Leinonen, Mika, DAlessandro, Andrea, Hoffman, Eric, McDonald, Craig
المصدر: Neurology, vol 102, iss 5
مصطلحات موضوعية: Humans, Male, Biomarkers, Muscular Dystrophy, Duchenne, Prednisone, Pregnadienediols, Child, Preschool
وصف الملف: application/pdf
العلاقة: qt4dd1d08d; https://escholarship.org/uc/item/4dd1d08dTest
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8دورية أكاديمية
المؤلفون: Dang, Utkarsh J, Damsker, Jesse M, Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie M, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin D, Harper, Amy, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michele L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard I, Mcmillan, Hugh J, Kuntz, Nancy, Rao, Vamshi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, De Groot, Imelda J M, Katsalouli, Marina, Van Den Anker, John N, Ward, Leanne M, Leinonen, Mika, D'Alessandro, Andrea L, Hoffman, Eric P
المصدر: Pharmacy Faculty Scholarship
وصف الملف: application/pdf
العلاقة: https://orb.binghamton.edu/pharmacy_fac/17Test; https://orb.binghamton.edu/context/pharmacy_fac/article/1018/viewcontent/WNL.0000000000208112.pdfTest
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9دورية أكاديمية
المؤلفون: Dang, Utkarsh J., Damsker, Jesse M., Guglieri, Michela, Clemens, Paula R., Perlman, Seth J., Smith, Edward C., Horrocks, Iain, Finkel, Richard S., Mah, Jean K., Deconinck, Nicolas, Goemans, Nathalie M., Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin D., Harper, Amy, Shieh, Perry B., De Waele, Liesbeth, Castro, Diana, Yang, Michele L., Ryan, Monique M., McDonald, Craig M., Tulinius, Mar, Webster, Richard I., Mcmillan, Hugh J., Kuntz, Nancy, Rao, Vamshi K., Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M., Selby, Kathryn A., Monduy, Migvis, Nevo, Yoram, Vilchez, Juan J., Nascimento-Osorio, Andres, Niks, Erik H., De Groot, Imelda J.M., Katsalouli, Marina, Van Den Anker, John N., Ward, Leanne M., Leinonen, Mika, D'Alessandro, Andrea L., Hoffman, Eric P.
المصدر: Neurology ; volume 102, issue 5 ; ISSN 0028-3878 1526-632X
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10دورية أكاديمية
المؤلفون: Juř�ková, Lenka, Masárová, Lucia, Panovský, Roman, Pešl, Martin, Revendová, Kamila Žondra, Volný, Ondřej, Feitová, Věra, Holeček, Tomaš, Kincl, Vladimír, Danhofer, Pavlína, Voh�?ka, Stanislav, Haberlová, Jana, Podolská, Karolína
المصدر: Frontiers in Neurology ; volume 15 ; ISSN 1664-2295
مصطلحات موضوعية: Neurology (clinical), Neurology