المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)

مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/4/186; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27

المؤلفون: Ilaria Gregorio, Maddalena Mereu, Gabriella Contarini, Luca Bello, Claudio Semplicini, Francesca Burgio, Loris Russo, Stefania Sut, Stefano Dall'Acqua, Paola Braghetta, Carlo Semenza, Elena Pegoraro, Francesco Papaleo, Paolo Bonaldo, Matilde Cescon

المصدر: Disease Models & Mechanisms, Vol 15, Iss 9 (2022)

مصطلحات موضوعية: collagen vi, mouse model, central nervous system, dopamine, prefrontal cortex, cognitive function, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/9/dmm049481; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/5e0687c8683e498ea310eedc29bad229

المؤلفون: Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Angela Polo, Sara Vianello, Gianni Sorarù, Claudio Semplicini, Boris Pantic, Antonella Taglia, Ester Picillo, Francesca Magri, Ksenija Gorni, Sonia Messina, Gian Luca Vita, Giuseppe Vita, Giacomo P Comi, Mario Ermani, Vincenzo Calvo, Corrado Angelini, Eric P Hoffman, Elena Pegoraro

المصدر: PLoS ONE, Vol 10, Iss 10, p e0141240 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4626372?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/09eb8e7e632a48d186df44a7f3e8eab4

المؤلفون: Corrado Angelini, Anna Chiara Nascimbeni, Claudio Semplicini

المصدر: Therapeutic Advances in Neurological Disorders, Vol 6 (2013)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-2856; https://doaj.org/toc/1756-2864

URL الوصول: https://doaj.org/article/34b1ffaa6fd642b6ba7a8a24b60779a8

المؤلفون: Corrado Angelini, Claudio Semplicini, Paola Tonin, Massimiliano Filosto, Elena Pegoraro, Gianni Sorarù, Marina Fanin

المصدر: Therapeutic Advances in Neurological Disorders, Vol 2 (2009)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-2856

URL الوصول: https://doaj.org/article/91b90fdb33374173bc3f4894990409ce

المؤلفون: Vittorio Abbonante, Alessandro Malara, Martina Chrisam, Samuele Metti, Paolo Soprano, Claudio Semplicini, Luca Bello, Valeria Bozzi, Monica Battiston, Alessandro Pecci, Elena Pegoraro, Luigi De Marco, Paola Braghetta, Paolo Bonaldo, Alessandra Balduini

مصطلحات موضوعية: autophagy, collagen VI, megakaryocytes, rapamycin, endoplasmic reticulum stress, Apoptosis, unfolded protein response, Cell Biology, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20248a26cd91390b4918ca7cd1b438c7

المؤلفون: Gianni Sorarù, Silvio C. E. Tosatto, Bruno F. Gavassini, Boris Pantic, Chiara Calore, Giovanna Cenacchi, Claudio Semplicini, Cinzia Bertolin, Maurizio Moggio, Francesca Guidolin, Giovanni Minervini, Elena Pegoraro, Roberto Stramare, Francesco Catapano, Luca Bello, Marco Previtero, Valentina Papa, Sara Vianello, Irene Colombo

المساهمون: Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E

المصدر: Neurology. 91:e1629-e1641

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, PREDICTION, Calsequestrin, medicine.disease_cause, 0302 clinical medicine, CASQ1 GENE, Subclinical infection, Mutation, medicine.diagnostic_test, Middle Aged, Magnetic Resonance Imaging, SKELETAL-MUSCLE, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Exercise intolerance, OPERATED CA2+ ENTRY, SEQUENCE, Article, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, Microscopy, Electron, Transmission, Muscular Diseases, STABILITY CHANGES, medicine, Humans, Genetic Testing, Muscle, Skeletal, Myopathy, Aged, Family Health, Muscle biopsy, MUTATIONS, business.industry, Calcium-Binding Proteins, Magnetic resonance imaging, NAD, SARCOPLASMIC-RETICULUM, AGGREGATE MYOPATHY, Lysosomal Storage Diseases, CALSEQUESTRIN EXPRESSION, 030104 developmental biology, Calcium, Histopathology, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c93abbcdb8ddee2c079b008d3e01d0d
https://doi.org/10.1212/wnl.0000000000006387

المؤلفون: Elisabetta Lombardi, Mario Mazzucato, Claudio Semplicini, Cristian Gruppi, Elena Pegoraro, Paolo Bonaldo, Vittorio Abbonante, Valeria Petronili, Francesco Moccia, Luigi De Marco, Monica Battiston, Luca Bello, Christian A. Di Buduo, Alessandra Zulian, Pierre-Alexandre Laurent, Paolo Bernardi, Paola Braghetta, Anna Villa, Alessandra Balduini, Lucia Piceni Sereni, Martina Chrisam

المصدر: Blood advances. 5(23)

مصطلحات موضوعية: Blood Platelets, medicine.medical_specialty, ORAI1 Protein, Chemistry, Ullrich congenital muscular dystrophy, Bethlem myopathy, Connective tissue, Hematology, medicine.disease, Transplantation, Mice, medicine.anatomical_structure, Endocrinology, Collagen VI, Internal medicine, Animals, Collagen, Humans, Megakaryocytes, Calcium Signaling, medicine, Platelet, Platelet activation, PI3K/AKT/mTOR pathway

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8afc89e1396df7d9f9f9f6cc2bb6fc
https://pubmed.ncbi.nlm.nih.gov/34547769

المؤلفون: D. Orlikowski, M C Nougues, P. Laforêt, Anthony Behin, Gorka Fernández-Eulate, Abdallah Fayssoil, Isabelle Desguerre, F. Leturcq, Sarah Leonard-Louis, Bruno Eymard, B Estournet-Mathiaud, Isabelle Richard, B Fauroux, A Isapof, Edoardo Malfatti, Karim Wahbi, Raquel Guimarães-Costa, T. Stojkovic, Claudio Semplicini, Susana Quijano-Roy, Norma B. Romero, Giorgia Querin, Christine Barnerias

المساهمون: Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Raymond Poincaré [AP-HP], 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, 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), Sorbonne Université (SU)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Richard, Isabelle

المصدر: European Journal of Neurology
European Journal of Neurology, Wiley, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩
European Journal of Neurology, 2021, 28 (2), pp.660-669. ⟨10.1111/ene.14592⟩

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, neuromuscular diseases, Exercise intolerance, 03 medical and health sciences, outcome measures, 0302 clinical medicine, Internal medicine, Sarcoglycans, sarcoglycan, medicine, Sarcoglycanopathies, Humans, 030212 general & internal medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, Retrospective Studies, Muscle biopsy, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Homozygote, Dilated cardiomyopathy, Retrospective cohort study, limb-girdle muscular dystrophies, medicine.disease, 3. Good health, Sarcoglycan, Sarcoglycanopathy, Neurology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, genetic, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc43a507bdad0a6b1a1d290138fabb4
https://hal.archives-ouvertes.fr/hal-03141476

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d7af9f5b5c3e103ad67999543f7100
https://hal.archives-ouvertes.fr/hal-03003854v2/document