المؤلفون: Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, D'Amico, Adele, Dowling, James J, Darras, Basil T, Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves, Landy, Hal, Servais, Laurent

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Disease Progression, Follow-Up Studies, Humans, Infant, Longitudinal Studies, Male, Middle Aged, Myopathies, Structural, Congenital, Phenotype, Prospective Studies, Young Adult

العلاقة: http://hdl.handle.net/10668/13750Test; PMC6550499; https://europepmc.org/articles/pmc6550499?pdf=renderTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550499/pdfTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000007319Test
http://hdl.handle.net/10668/13750Test
https://europepmc.org/articles/pmc6550499?pdf=renderTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550499/pdfTest

المؤلفون: Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

المصدر: Alonso-Pérez , J , González-Quereda , L , Bello , L , Guglieri , M , Straub , V , Gallano , P , Semplicini , C , Pegoraro , E , Zangaro , V , Nascimento , A , Ortez , C , Comi , G P , Dam , L T , De Visser , M , van der Kooi , A J , Garrido , C , Santos , M , Schara , U , Gangfuß , A , Løkken , N , Storgaard , J H , Vissing , J , Schoser , B , ....

مصطلحات موضوعية: Adolescent, Adult, Aged, Child, Preschool, Cohort Studies, Europe/epidemiology, Female, Genetic Association Studies/methods, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle/diagnosis, Retrospective Studies, Sarcoglycanopathies/diagnosis, Young Adult

الإتاحة: https://doi.org/10.1093/brain/awaa228Test
https://curis.ku.dk/portal/da/publications/new-genotypephenotype-correlations-in-a-large-european-cohort-of-patients-with-sarcoglycanopathyTest(ebe7a3ae-90e5-4235-b546-f474acc39bf9).html

المؤلفون: Laura Costa-Comellas, Chiara Panicucci, Ana Camacho-Salas, Ulrike Schara, Claudio Semplicini, Isabel Illa, Arturo Fraga-Bau, Leroy ten Dam, Jan De Bleecker, Lea Leonardis, Jesper Helbo Storgaard, Juan Carlos de Leon-Hernández, Vittoria Zangaro, Giacomo P. Comi, Vincenzo Nigro, Adele D'Amico, Benedikt Schoser, Pia Gallano, Manuela Santos, Edoardo Malfatti, Cristina Domínguez-González, F. Munell, De Vos Elke, Alicia Alonso-Jimenez, Matteo Garibaldi, Bjarne Udd, Nicoline Løkken, A. J. van der Kooi, Giorgio Tasca, John Vissing, Jordi Díaz-Manera, Elena Pegoraro, Andrea Gangfuß, Jorge Alonso-Pérez, Claudia Weiss, Luisa Politano, Marie Rohlenová, Cristina Garrido, David Gómez-Andrés, Jana Haberlová, Roberto Fernández-Torrón, Gabriele Dekomien, Kristl G. Claeys, Marianne de Visser, Andrés Nascimento, Michela Guglieri, Carlos Ortez, Isabelle Richard, Lidia Gonzalez-Quereda, Béla Melegh, Claudio Bruno, Omar Abdel-Mannan, Anna Sarkozy, Adolfo López de Munain, Blaz Koritnik, Nicolas Deconinck, Kinga Hadzsiev, Luca Bello, Johanna Palmio, Volker Straub

المساهمون: Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Neurology, ANS - Neuroinfection & -inflammation, Graduate School, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, André, Ortez, Carlo, Comi, Giacomo Pietro, ten Dam, Leroy, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vo, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicola, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlo, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (9), pp.2696-2708. ⟨10.1093/brain/awaa228⟩
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Brain
Brain, 143(9), 2696-2708. Oxford University Press
Brain-A Journal of Neurology, 2020, 143 (9), pp.2696-2708. ⟨10.1093/brain/awaa228⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

مصطلحات موضوعية: 0301 basic medicine, Registrie, Male, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Medizin, Limb girdle muscular dystrophie, Cohort Studies, 0302 clinical medicine, Registries, Child, sarcoglycan, ComputingMilieux_MISCELLANEOUS, treatment, Cohort, cohort, Middle Aged, limb girdle muscular dystrophies, 3. Good health, Europe, Child, Preschool, registries, Female, Cohort study, Sarcoglycanopathies, Adult, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Limb girdle muscular dystrophies, Sarcoglycan, Genetic Association Studies, SGCA, Aged, Retrospective Studies, business.industry, Retrospective cohort study, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Treatment, 030104 developmental biology, Sarcoglycanopathy, Muscular Dystrophies, Limb-Girdle, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), Human medicine, Age of onset, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d7af9f5b5c3e103ad67999543f7100Test
https://hal.archives-ouvertes.fr/hal-03003854v2/documentTest