المؤلفون: Díaz-Manera, Jordi, Urtizberea, J. Andoni, Schey, Carina, Kole, Anna, von Gallwitz, Philipp, Whiting, Amy, Foerster, Douglas, Zozulya-Weidenfeller, Alla

المصدر: Díaz-Manera , J , Urtizberea , J A , Schey , C , Kole , A , von Gallwitz , P , Whiting , A , Foerster , D & Zozulya-Weidenfeller , A 2023 , ' Impact of restricted access to, and low awareness of, mexiletine on people with myotonia : a real-world European survey ' , Neuromuscular disorders , vol. 33 , no. 2 , pp. 208-217 . https://doi.org/10.1016Test/j.nmd.2022.12.008

مصطلحات موضوعية: Cross-sectional survey, Health-related quality of life, Mexiletine access, Myotonia treatment, Patient advocacy

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/6304ca9b-db9a-42f9-8a24-97cd76c756e6Test

الإتاحة: https://doi.org/10.1016Test/j.nmd.2022.12.008
https://hdl.handle.net/11370/6304ca9b-db9a-42f9-8a24-97cd76c756e6Test
https://research.rug.nl/en/publications/6304ca9b-db9a-42f9-8a24-97cd76c756e6Test
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المؤلفون: Romero, Norma Beatriz, Urtizberea, J. Andoni, Quijano-Roy, Susana

المصدر: Neuromuscular Disorders ; volume 38, page 42-43 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016Test/j.nmd.2024.03.008
https://api.elsevier.com/content/article/PII:S0960896624000610?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896624000610?httpAccept=text/plainTest

المؤلفون: Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Sabbagh, Sandra, Mansour, Hicham, Chouery, Eliane, Hmaimess, Ghassan, Jabbour, Rosette, Mehawej, Cybel, Alame, Saada, Hani, Abeer, Hasbini, Dana, Ghanem, Ismat, Koussa, Salam, Al-Ali, Mahmoud, Taleb, Obeid, Marc, Talea, Diana, Bou, Lefranc, Gerard, Lévy, Nicolas, Leturcq, France, El Hayek, Stephany, Delague, Valérie, Urtizberea, J., Andoni

المساهمون: Human Genetics Department LAU Gilbert and Rose-Marie Chagoury School of Medicine, Gilbert and Rose-Marie Chagoury School of Medicine Lebanese American University, Lebanese American University (LAU)-Lebanese American University (LAU), Institut Jérôme Lejeune, Centre for Arab Genomic Studies (CAGS), Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), Saint George Hospital University Medical Center UOB LIBAN, University of Balamand Liban (UOB), الجامعة اللبنانية بيروت = Lebanese University Beirut = Université libanaise Beyrouth (LU / ULB), Lebanese American University (LAU), Neuropediatrics Department Beirut, Lebanon, Rafic Hariri University Hospital Beirut, Lebanon, Department of Neurology, Lebanese University Hospital-Geitaoui, Department of Laboratory Science and Technology, American University of Science and Technology (AUST), Institut de génétique humaine (IGH), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone CHU - APHM (TIMONE), Service de biochimie et de génétique moléculaire CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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)

المصدر: ISSN: 2214-3599.

مصطلحات موضوعية: Genetics, Lebanon, neuromuscular, SMA, DMD, LGMD, CMT, FSHD, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: hal-03538650; https://hal.sorbonne-universite.fr/hal-03538650Test; https://hal.sorbonne-universite.fr/hal-03538650/documentTest; https://hal.sorbonne-universite.fr/hal-03538650/file/jnd_2022_9-1_jnd-9-1-jnd210652_jnd-9-jnd210652.pdfTest

الإتاحة: https://doi.org/10.3233/JND-210652Test
https://hal.sorbonne-universite.fr/hal-03538650Test
https://hal.sorbonne-universite.fr/hal-03538650/documentTest
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المؤلفون: Cerino, Mathieu, Gonzalez-Hormazabal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Diaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortes, Rocio, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidad de Chile = University of Chile Santiago (UCHILE), Hospital Clínico Universidad de Chile, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 2073-4425 ; Genes ; https://amu.hal.science/hal-03780367Test ; Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩.

مصطلحات موضوعية: limb-girdle muscle weakness, LGMD, hereditary myopathies, high-throughput sequencing, next-generation sequencing, Chile, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-03780367; https://amu.hal.science/hal-03780367Test; https://amu.hal.science/hal-03780367/documentTest; https://amu.hal.science/hal-03780367/file/Genetic%20Profile%20of%20Patients%20with%20Limb-Girdle%20Muscle%20Weakness%20%281%29.pdfTest

الإتاحة: https://doi.org/10.3390/genes13061076Test
https://amu.hal.science/hal-03780367Test
https://amu.hal.science/hal-03780367/documentTest
https://amu.hal.science/hal-03780367/file/Genetic%20Profile%20of%20Patients%20with%20Limb-Girdle%20Muscle%20Weakness%20%281%29.pdfTest

العنوان البديل: The Schwartz-Jampel syndrome. (English)

المؤلفون: Urtizberea, J. Andoni, Severa, Gianmarco, Ropars, Juliette, Malfatti, Edoardo

المصدر: Médecine Sciences; 2023 Special Issue, Vol. 39, p37-46, 10p

المؤلفون: Urtizberea, J Andoni, Romero, Norma Beatriz, Bevilacqua-Rivas, Jorge Alfredo

العلاقة: handle/10533/111557; handle/10533/111541; handle/10533/108045; https://doi.org/10.1016Test/j.rmclc.2018.08.004; 1151383; https://hdl.handle.net/10533/251899Test

الإتاحة: https://doi.org/10.1016Test/j.rmclc.2018.08.004
https://hdl.handle.net/10533/251899Test

المؤلفون: Wilichowski, Ekkehard, Chaigne, Denys, Castiglioni, Claudia, Donkervoort, Sandra, Gonzalez, Victoria, Metay, Corinne, von Der Hagen, Maja, Villar-Quiles, Rocio N., Merlini, Luciano, Bertini, Enrico, Ferreiro, Ana, Quijano-Roy, Susana, Richard, Pascale, Estournet, Brigitte, Fardeau, Michel, Romero, Norma B., van der Kooi, Anneke, Schlotter-Weigel, Beate, Orlikowski, David, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lutschg, Jurg, Malfatti, Edoardo, Mayer, Michele, Reuner, Ulrike, Salih, Mustafa A., Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J. Andoni, Bonnemann, Carsten G., Schara, Ulrike

العلاقة: 2fb80a9b-1e65-4c7a-9e91-5c6718dd8eab; https://avesis.hacettepe.edu.tr/publication/details/2fb80a9b-1e65-4c7a-9e91-5c6718dd8eab/oaiTest

الإتاحة: https://doi.org/10.1212/wnl.0000000000010327Test
https://avesis.hacettepe.edu.tr/publication/details/2fb80a9b-1e65-4c7a-9e91-5c6718dd8eab/oaiTest

المؤلفون: BABAEE, Marzieh, URTIZBEREA, J. Andoni, FATEHI, Farzad, RAYEGANI, Seyed Mansoor

المصدر: Iranian Journal of Child Neurology; Autumn2023, Vol. 17 Issue 4, p9-22, 14p

مصطلحات موضوعية: ELECTRODIAGNOSIS, NERVE conduction studies, PEDIATRICS, COMPARATIVE studies, POLYNEUROPATHIES, ROUTINE diagnostic tests, ELECTROMYOGRAPHY, CHILDREN

المؤلفون: Pelin, Katarina, Hilpela, Pirta, Donner, Kati, Sewry, Caroline, Akkari, Patrick A., Wilton, Stephen D., Wattanasirichaigoon, Duangrurdee, Bang, Marie-Louise, Centner, Thomas, Hanefeld, Folker, Odent, Sylvie, Fardeau, Michel, Urtizberea, J. Andoni, Muntoni, Francesco, Dubowitz, Victor, Beggs, Alan H., Laing, Nigel G., Labeit, Siegfried, de la Chapelle, Albert, Wallgren-Pettersson, Carina

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Mar 01. 96(5), 2305-2310.

الوصول الحر: https://www.jstor.org/stable/47056Test

المؤلفون: Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Baets, Jonathan

مصطلحات موضوعية: Neurology (clinical)

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/182044Test

الإتاحة: https://doi.org/10.1093/brain/awz216Test
https://www.openaccessrepository.it/record/182044Test