المؤلفون: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, DAngelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, DAmico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, Hoffman, Eric, Pegoraro, Elena, McDonald, Craig

المصدر: Journal of Neuromuscular Diseases. 11(2)

مصطلحات موضوعية: Duchenne muscular dystrophy, LTBP4, dilated cardiomyopathy, genetic modifiers, glucocorticoid treatment, Humans, Dystrophin, Haplotypes, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Muscular Dystrophy, Duchenne, Cardiomyopathies, Protein Isoforms, Latent TGF-beta Binding Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5v7247q8Test

المؤلفون: Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, McDonald, Craig

المصدر: Journal of Neurology. 269(9)

مصطلحات موضوعية: CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/78z8t30mTest

المؤلفون: Bettio, Cinzia, Banchelli, Federico, Salsi, Valentina, Vicini, Roberto, Crisafulli, Oscar, Ruggiero, Lucia, Ricci, Giulia, Bucci, Elisabetta, Angelini, Corrado, Berardinelli, Angela, Bonanno, Silvia, D'Angelo, Maria Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Frezza, Erica, Maggi, Lorenzo, Mongini, Tiziana, Pegoraro, Elena, Rodolico, Carmelo, Scarlato, Marina, Vattemi, Gaetano, Velardo, Daniele, Tomelleri, Giuliano, D'Amico, Roberto, D'Antona, Giuseppe, Tupler, Rossella

المساهمون: Bettio, Cinzia, Banchelli, Federico, Salsi, Valentina, Vicini, Roberto, Crisafulli, Oscar, Ruggiero, Lucia, Ricci, Giulia, Bucci, Elisabetta, Angelini, Corrado, Berardinelli, Angela, Bonanno, Silvia, D'Angelo, Maria Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Frezza, Erica, Maggi, Lorenzo, Mongini, Tiziana, Pegoraro, Elena, Rodolico, Carmelo, Scarlato, Marina, Vattemi, Gaetano, Velardo, Daniele, Tomelleri, Giuliano, D'Amico, Roberto, D'Antona, Giuseppe, Tupler, Rossella

مصطلحات موضوعية: FSHD, Health promotion, Neuromuscular diseases, Physical activity, Rare disease, Sport medicine

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38183077; info:eu-repo/semantics/altIdentifier/wos/WOS:001137106900004; volume:25; issue:35; firstpage:1; lastpage:9; numberofpages:9; journal:BMC MUSCULOSKELETAL DISORDERS; https://hdl.handle.net/11562/1116767Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85181508675; https://doi.org/10.1186/s12891-023-07150-xTest

الإتاحة: https://doi.org/10.1186/s12891-023-07150-xTest
https://hdl.handle.net/11562/1116767Test

المؤلفون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Inés, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thomas, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, McConville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, James, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’di, Qais, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa, Schaefer, Andrew, Schenone, Angelo, Scriba, Carolin, Shaw, Joseph, Silvestri, Gabriella, Stevens, James, Strupp, Michael, Sumner, Charlotte J, Szymura, Agnieszka, Tagliapietra, Matteo, Tassorelli, Cristina, Tessa, Alessandra, Theaudin, Marie, Tomaselli, Pedro, Tozza, Stefano, Tucci, Arianna, Valente, Enza Maria, Versino, Maurizio, Walsh, Richard A, Wood, Nick W, Yau, Way Yan, Zuchner, Stephan, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, null, null

المساهمون: Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andrea, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Albájar, Iné, Ashton, Catherine, Beauchamp, Nick, Beecroft, Sarah J, Bellone, Emilia, Berciano, Josè, Bogdanova-Mihaylova, Petya, Borroni, Barbara, Brais, Bernard, Bugiardini, Enrico, Campos, Catarina, Carr, Aisling, Carroll, Liam, Castellani, Francesca, Cavallaro, Tiziana, Chinnery, Patrick F, Colnaghi, Silvia, Cosentino, Giuseppe, Damasio, Joana, Das, Soma, Devigili, Grazia, Di Bella, Daniela, Dick, David, Durr, Alexandra, El-Saddig, Amar, Faber, Jennifer, Ferrarini, Moreno, Filosto, Massimiliano, Fuller, Geraint, Gallone, Salvatore, Gemelli, Chiara, Grandis, Marina, Hardy, John, Hewamadduma, Channa, Horvath, Rita, Huin, Vincent, Imperiale, Daniele, Iruzubieta, Pablo, Kaski, Diego, King, Andrew, Klockgether, Thoma, Koç, Müge, Kumar, Kishore R, Kuntzer, Thierry, Laing, Nigel, Laurà, Matilde, Lavin, Timothy, Leigh, Peter Nigel, Leonardis, Lea, Lunn, Michael P, Magri, Stefania, Magrinelli, Francesca, Malaquias, Maria João, Mancuso, Michelangelo, Manji, Hadi, Massucco, Sara, Mcconville, John, Munhoz, Renato P, Nagy, Sara, Ndayisaba, Alain, Nemeth, Andrea Hilary, Novis, Luiz Eduardo, Palmio, Johanna, Pegoraro, Elena, Pellerin, David, Perrone, Benedetta, Pisciotta, Chiara, Polke, Jame, Proudfoot, Malcolm, Orsi, Laura, Radunovic, Aleksandar, Riva, Nilo, Robert, Aiko, Ronco, Riccardo, Rossini, Elena, Rossor, Alex M, Şahbaz, Irmak, Sa’Di, Qai, Salsano, Ettore, Salvalaggio, Alessandro, Santoro, Lucio, Sarto, Elisa

مصطلحات موضوعية: canva, rfc1, Southern blotting

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38193360; numberofpages:31; journal:BRAIN; https://hdl.handle.net/11573/1702715Test

الإتاحة: https://doi.org/10.1093/brain/awad436Test
https://hdl.handle.net/11573/1702715Test

المؤلفون: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi

مصطلحات موضوعية: FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7934r86tTest
https://escholarship.org/content/qt7934r86t/qt7934r86t.pdfTest

المؤلفون: Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K, Mayhew, Anna G, Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha‐Goebel, Diana X, Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Consortium, The Jain COS, Bourke, John, Straub, Volker

المصدر: Muscle & Nerve. 65(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Lung, Clinical Research, Electrocardiography, Female, Humans, Longitudinal Studies, Male, Muscular Dystrophies, Limb-Girdle, Phenotype, Jain COS Consortium, Miyoshi myopathy, cardiac, dysferlin, limb girdle muscular dystrophy R2, respiratory, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0m77p2bgTest

المؤلفون: Dosi, Claudia, Rubegni, Anna, Baldacci, Jacopo, Galatolo, Daniele, Doccini, Stefano, Astrea, Guja, Berardinelli, Angela, Bruno, Claudio, Bruno, Giorgia, Comi, Giacomo Pietro, Donati, Maria Alice, Dotti, Maria Teresa, Filosto, Massimiliano, Fiorillo, Chiara, Giannini, Fabio, Gigli, Gian Luigi, Grandis, Marina, Lopergolo, Diego, Magri, Francesca, Maioli, Maria Antonietta, Malandrini, Alessandro, Massa, Roberto, Matà, Sabrina, Melani, Federico, Messina, Sonia, Mignarri, Andrea, Moggio, Maurizio, Pennisi, Elena Maria, Pegoraro, Elena, Ricci, Giulia, Sacchini, Michele, Schenone, Angelo, Sampaolo, Simone, Sciacco, Monica, Siciliano, Gabriele, Tasca, Giorgio, Tonin, Paola, Tupler, Rossella, Valente, Mariarosaria, Volpi, Nila, Cassandrini, Denise, Santorelli, Filippo Maria

المساهمون: Molecular, Cell and Cancer Biology

المصدر: Genes ; 14 ; 2 ; Switzerland

مصطلحات موضوعية: NGS, RYR1-related myopathies, genotype–phenotype correlation, unsupervised cluster analysis

العلاقة: Genes; https://doi.org/10.3390/genes14020298Test; Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies. Genes (Basel). 2023 Jan 23;14(2):298. doi:10.3390/genes14020298. PMID: 36833224; PMCID: PMC9956305.; http://hdl.handle.net/20.500.14038/53556Test

الإتاحة: https://doi.org/10.3390/genes1402029820.500.14038/53556Test
https://hdl.handle.net/20.500.14038/53556Test

المؤلفون: Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, Mercuri, Eugenio

المصدر: Neuromuscular Disorders ; volume 34, page 75-82 ; ISSN 0960-8966

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

الإتاحة: https://doi.org/10.1016/j.nmd.2023.11.011Test
https://api.elsevier.com/content/article/PII:S0960896623008076?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623008076?httpAccept=text/plainTest

المؤلفون: Amato, Anthony A, Hanna, Michael G, Machado, Pedro M, Badrising, Umesh A, Chinoy, Hector, Benveniste, Olivier, Karanam, Ananda Krishna, Wu, Min, Tankó, László B, Schubert-Tennigkeit, Agnes Annette, Papanicolaou, Dimitris A, Lloyd, Thomas E, Needham, Merrilee, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James AL, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Aoki, Masashi, Katsuno, Masahisa, Morihata, Hirokazu, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie SL, Vissing, John, Zhang Auberson, Lixin

المصدر: Neurology. 96(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Accidental Falls, Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Humanized, Double-Blind Method, Female, Humans, Male, Middle Aged, Muscle Strength, Myositis, Inclusion Body, Time, Treatment Outcome, Walk Test, RESILIENT Study Extension Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6hb7r1btTest

المؤلفون: Iacomussi, Sofia, Casareto, Lorena, Locatelli, Manuela, Wang, Chiuhui Mary, Borroni, Simona, Mascalzoni, Deborah, 1973, Sangiorgi, Luca, Coviello, Domenico, Zecchinelli, Anna Lena, Renieri, Alessandra, Pegoraro, Elena, Sciacco, Monica, Andreetta, Francesca, Merla, Giuseppe, Nigro, Vincenzo, Garavaglia, Barbara, Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Cilia, Roberto, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Politano, Luisa

المصدر: Biopreservation and Biobanking. 19(6):483-492

مصطلحات موضوعية: biobanking, sample and data access, Access committee, governance, networking, ethical, legal and societal issues

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468459Test
https://doi.org/10.1089/bio.2021.0057Test
https://uu.diva-portal.org/smash/get/diva2:1640681/FULLTEXT01.pdfTest