المؤلفون: Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: RYR1-related myopathies, Central core disease, Multi-minicore disease, Genotype–phenotype correlations, Neuromuscular disorder, Protein modelling, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/3ed5f40b63494afb99f982bee9a3292aTest

المؤلفون: Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco

المصدر: Cells; Volume 12; Issue 10; Pages: 1405

مصطلحات موضوعية: phospholamban, Arg14del, skeletal muscle, aggresomes

وصف الملف: application/pdf

العلاقة: Tissues and Organs; https://dx.doi.org/10.3390/cells12101405Test

الإتاحة: https://doi.org/10.3390/cells12101405Test

المؤلفون: Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: dystrophin, muscular dystrophy, nationwide study, exon skipping therapy, read-through therapy, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00131/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/35ed134ecc004b5db2961704c8d9c79aTest

المؤلفون: Schijven D., Stevelink R., McCormack M., van Rheenen W., Luykx J. J., Koeleman B. P. C., Veldink J. H., Aleksey Shatunov, Russell L. McLaughlin, Rick A. A. van der Spek, Alfredo Iacoangeli, Kevin P. Kenna, Kristel R. van Eijk, Nicola Ticozzi, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Marta Gromicho, Ana Pronto-Laborinho, Jesus S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E. Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazli Basak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian R. Andres, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A. M. Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W. Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Markus Weber, Christopher E. Shaw, Bradley N. Smith, Daisy Sproviero, Cristina Cereda, Mauro Ceroni, Luca Diamanti, Roberto Del Bo, Stefania Corti, Giacomo P. Comi, Sandra D'Alfonso, Lucia Corrado, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Ian Blair, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Julian Grosskreutz, Otto W. Witte, Robert Steinbach, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A. Hübner, P. Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C. Ludolph, Jochen H. Weishaupt, Wim Robberecht, Philip Van Damme, Robert H. Brown, Jonathan D. Glass, John E. Landers, Orla Hardiman, Peter M. Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Michael A. van Es, R. Jeroen Pasterkamp, Cathryn M. Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H. van den Berg, Jan H. Veldink, Daniela Calini, Isabella Fogh, Barbara Castellotti, Franco Taroni, Stella Gagliardi, Giacomo Comi, Sandra D’Alfonso, Elena Pegoraro, Giorgia Querin, Francesca Gerardi, Fabrizio Rinaldi, Maria Sofia Cotelli, Luca Chiveri, Maria Cristina Guaita, Patrizia Perrone, Giancarlo Comi, Carlo Ferrarese, Lucio Tremolizzo, Marialuisa Delodovici, Giorgio Bono, Stefania Cammarosano, Antonio Canosa, Dario Cocito, Leonardo Lopiano, Luca Durelli, Bruno Ferrero, Antonio Bertolotto, Alessandro Mauro, Luca Pradotto, Roberto Cantello, Enrica Bersano, Dario Giobbe, Maurizio Gionco, Daniela Leotta, Lucia Appendino, Cavallo Cavallo, Enrico Odddenino, Claudio Geda, Fabio Poglio, Paola Santimaria, Umberto Massazza, Antonio Villani, Roberto Conti, Fabrizio Pisano, Mario Palermo, Franco Vergnano, Paolo Provera, Maria Teresa Penza, Marco Aguggia, Nicoletta Di Vito, Piero Meineri, Ilaria Pastore, Paolo Ghiglione, Danilo Seliak, Nicola Launaro, Giovanni Astegiano, Bottacchi Edo, Isabella Laura Simone, Stefano Zoccolella, Michele Zarrelli, Franco Apollo, William Camu, Jean Sebastien Hulot, Francois Viallet, Philippe Couratier, David Maltete, Christine Tranchant, Marie Vidailhet, Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, Krishna Chinthapalli, Alison J Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John J Craig, Gerrit-Jan de Haan, Peter De Jonghe, Carolien G F de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis J Dlugos, Colin P Doherty, Christian E Elger, Johan G Eriksson, Thomas N Ferraro, Martha Feucht, Ben Francis, Jacqueline A French, Saskia Freytag, Verena Gaus, Eric B Geller, Christian Gieger, Tracy Glauser, Simon Glynn, David B Goldstein, Hongsheng Gui, Youling Guo, Kevin F Haas, Hakon Hakonarson, Kerstin Hallmann, Sheryl Haut, Erin L Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Michael R Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūte, Dorothee Kasteleijn-Nolst Trenite, Heidi E Kirsch, Robert C Knowlton, Bobby P C Koeleman, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, Yu-Lung Lau, Anna-Elina Lehesjoki, Holger Lerche, Costin Leu, Dick Lindhout, Warren D Lo, Iscia Lopes-Cendes, Daniel H Lowenstein, Alberto Malovini, Anthony G Marson, Thomas Mayer, Mark McCormack, James L Mills, Nasir Mirza, Martina Moerzinger, Rikke S Møller, Anne M Molloy, Hiltrud Muhle, Mark Newton, Ping-Wing Ng, Markus M Nöthen, Peter Nürnberg, Terence J O’Brien, Karen L Oliver, Aarno Palotie, Faith Pangilinan, Sarah Peter, Slavé Petrovski, Annapurna Poduri, Michael Privitera, Rodney Radtke, Sarah Rau, Philipp S Reif, Eva M Reinthaler, Felix Rosenow, Josemir W Sander, Thomas Sander, Theresa Scattergood, Steven C Schachter, Christoph J Schankin, Ingrid E Scheffer, Bettina Schmitz, Susanne Schoch, Pak C Sham, Jerry J Shih, Graeme J Sills, Sanjay M Sisodiya, Lisa Slattery, Alexander Smith, David F Smith, Michael C Smith, Philip E Smith, Anja C M Sonsma, Doug Speed, Michael R Sperling, Bernhard J Steinhoff, Ulrich Stephani, Remi Stevelink, Konstantin Strauch, Pasquale Striano, Hans Stroink, Rainer Surges, K Meng Tan, Liu Lin Thio, G Neil Thomas, Marian Todaro, Rossana Tozzi, Maria S Vari, Eileen P G Vining, Frank Visscher, Sarah von Spiczak, Nicole M Walley, Yvonne G Weber, Zhi Wei, Judith Weisenberg, Christopher D Whelan, Peter Widdess-Walsh, Markus Wolff, Stefan Wolking, Wanling Yang, Federico Zara, Fritz Zimprich

المساهمون: D., Schijven, R., Stevelink, M., Mccormack, W., van Rheenen, J. J., Luykx, B. P. C., Koeleman, J. H., Veldink, Shatunov, Aleksey, Mclaughlin, Russell L., van der Spek, Rick A. A., Iacoangeli, Alfredo, Kenna, Kevin P., van Eijk, Kristel R., Ticozzi, Nicola, Rogelj, Bori, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Dolenc Grošelj, Leja, Millecamps, Stéphanie, Salachas, Françoi, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Gromicho, Marta, Pronto-Laborinho, Ana, Mora, Jesus S., Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanna, Drepper, Carsten, Sendtner, Michael, Meyer, Thoma, Ophoff, Roel A., Staats, Kim A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M., Trojanowski, John Q., Elman, Lauren, Mccluskey, Leo, Nazli Basak, A., Meitinger, Thoma, Lichtner, Peter, Blagojevic-Radivojkov, Milena, Andres, Christian R., Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexi, Payan, Christine A. M., Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W., Tittmann, Luka, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-Françoi, Uitterlinden, Andre G., Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charle, van der Kooi, Anneke J., Weber, Marku, Shaw, Christopher E., Smith, Bradley N., Sproviero, Daisy, Cereda, Cristina, Ceroni, Mauro, Diamanti, Luca, Del Bo, Roberto, Corti, Stefania, Comi, Giacomo P., D'Alfonso, Sandra, Corrado, Lucia, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia

مصطلحات موضوعية: ALS, Epilepsy, Genetic correlation, Amyotrophic Lateral Sclerosi, Gene Frequency, Human, Risk, Genetic Variation, Genome-Wide Association Study, Negative Results

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32409253; info:eu-repo/semantics/altIdentifier/wos/WOS:000539467300016; volume:92; firstpage:153; numberofpages:8; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/11577/3443731Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084453564

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2020.04.011Test
http://hdl.handle.net/11577/3443731Test

المؤلفون: Federica Rizzo, Silvia Bono, Marc David Ruepp, Sabrina Salani, Linda Ottoboni, Elena Abati, Valentina Melzi, Chiara Cordiglieri, Serena Pagliarani, Roberta De Gioia, Alessia Anastasia, Michela Taiana, Manuela Garbellini, Simona Lodato, Paolo Kunderfranco, Daniele Cazzato, Daniele Cartelli, Caterina Lonati, Nereo Bresolin, Giacomo Comi, Monica Nizzardo, S Corti

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ce717771b8aeb8132018f9768aa5df20Test
https://doi.org/10.21203/rs.3.rs-2817290/v1Test

المؤلفون: Elia Cipriano, Domizia Vecchio, Letizia Mazzini, Gionata Strigaro, Daniela Piga, Monica Sciacco, Giacomo Comi, Egidio Genovese, Roberto Cantello

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ba4879a1ca6b858027ead886030a1033Test
https://doi.org/10.21203/rs.3.rs-2570257/v1Test

المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Catherine Cassiman, Lies Prove, Lisa Vancampenhout, Marleen van den Hauwe, Annelies Van Impe, Claude Cances, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Bremond-Gignac, Maxence Rateuax, Elodie Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stephanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Jan Bollig, ù Fanni Molnár, Sibylle Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuss, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, Mareile Stoehr, Barbara Andres, Karin Smuda, Enrico Bertini, Adele D'Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo Comi, Silvia Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foà, Maria Amalia Lopopolo, Francesca Magri, Alessandra Govoni, Megi Meneri, Valeria Parente, Laura Antonaci, Maria Carmela Pera, Marika Pane, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis, Giuseppe Vita, Maria Sframeli, Gian Luca Vita, Pasquale Aragona, Leandro Inferrera, Elisa Imelde Postorino, Daniela Montanini, Vincenzo Di Bella, Concetta Donato, Elisabetta Calà, Ludo Van der Pol, Jos Aalbers, Joke de Boer, Saskia Imhof, Pascale Cooijmans, Thijs Ruyten, Danny Van Der Woude, Beata Klimaszewska, Dominika Romańczak, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, Marcin Sobieraj, Anna Lusakowska, Biruta Kierdaszuk, Karolina Czeczko, Bettina Henzi, Konstantin Gugleta, Akos Kusnyerik, Patricia Siems, Sabina Akos, Nora Frei, Christine Seppi, Christine Wondrusch Haschke, Michela Guglieri, Volker Straub, Richard Bell, Mahmoud Nassar, Stuart Page, Michael Patrick Clarke, Aedheen Regan, Anna Mayhew, Robert Muni Lofra, Deepak Parasuraman, Simone Bruschi, Abdul-Jabbar Ghauri, Andrew Castle, Saima Naqvi, Nicola Patt, Mariacristina Scoto, Federica Trucco, Robert H Henderson, Roopen Kukadia, Will Moore, Evelin Milev, Catherine Rye, Victoria Selby, Amy Wolfe, Basil Darras, Anna Maria Baglieri, Anne Fulton, Courtney Lucken, Elizabeth Maczek, Amy Pasternak, Claudia A Chiriboga, Steven Kane, Ma Edylin M Bautista, Eileen Frommer, Noelle Pensec, Rachel Salazar, Cara Yochai, Rafael Rodrigues-Torres, Manroop Chawla, John Day, Shannon Beres, Richard Gee, Sally Dunaway Young, Richard Finkel, Aledie Navas Nazario, Airaj Fasiuddin, Julie A Wells, Jennifer Wilson, Debbie Berry, Virgina Rizzo, Julie Duke, Migvis Monduy, Jorge Collado.

المساهمون: Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Franci, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco, Deconinck, Nicola, Balikova, Irina, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, Goemans, Nathalie, Cassiman, Catherine, Prove, Lie, Vancampenhout, Lisa, van den Hauwe, Marleen, Van Impe, Annelie, Cances, Claude, Soler, Vincent, Maillard De La Morandais, Lauriane, Vovan, Delphine, Cintas, Pascal, Auriol, Françoise, Mus, Marianne, Alphonsa, Gwennaelle, Bellio, Valerie, Gil Mato, Olaia, Flamein, Florence, Evrard, Cécile, Ziouche, Amina, Bouacha-Allou, Ikram, Debruyne, Philippe, Derlyn, Gille, Defoort, Sabine, Leroy, Florian, Danjoux, Loïc, Desguerre, Isabelle, Bremond-Gignac, Dominique, Rateuax, Maxence, Deladrière, Elodie, Vuillerot, Carole, Veillerot, Quentin, Sibille-Dabadi, Bénédicte, Barrière, Aurélie, Tinat, Marie, Saidi, Manel, Fontaine, Stephanie, De Montferrand, Camille, Le-Goff, Laure, Portefaix, Aurélie, Walther Louvier, Ulrike, Duval, Pierre-André, Caradec, Pascale, Touati, Souad, Zamora Herranz, Alberto, Bollig, Jan, Fanni Molnár, Ù, Vogt, Sibylle, Pechmann, Astrid, Schorling, David, Wider, Sabine, Kölbel, Heike, Schara, Ulrike, Braun, Frederik, Gangfuss, Andrea, Hagenacker, Tim, Eckstein, Anja, Dekowski, Dirk, Oeverhaus, Michael, Stoehr, Mareile, Andres, Barbara, Smuda, Karin, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Valente, Paola, Maria Bonetti, Anna, Carlesi, Adelina, Mizzoni, Irene, Pedemonte, Marina, Brolatti, Noemi, Priolo, Enrico, Rao, Giuseppe, Sposetti, Lorenza, Morando, Simone, Comi, Giacomo, Osnaghi, Silvia, Minorini, Valeria

مصطلحات موضوعية: Evrysdi, Pharmacodynamic, Risdiplam, Safety, Spinal muscular atrophy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000929942600001; volume:12; firstpage:543; lastpage:557; numberofpages:15; journal:NEUROLOGY AND THERAPY; https://hdl.handle.net/11567/1156274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148078301

الإتاحة: https://doi.org/10.1007/s40120-023-00444-1Test
https://hdl.handle.net/11567/1156274Test

المؤلفون: Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Comi, Filippo Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro

المصدر: Genes; Volume 9; Issue 11; Pages: 524

مصطلحات موضوعية: copy number variants, skeletal muscle disorders, next-generation sequencing, variants of uncertain significance

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes9110524Test

الإتاحة: https://doi.org/10.3390/genes9110524Test

المؤلفون: Michela Taiana, Alessandra Govoni, Sabrina Salani, Nicole Kleinschmidt, Noemi Galli, Matteo Saladini, Stefano Bruno Ghezzi, Valentina Melzi, Margherita Bersani, Roberto Del Bo, Oliver Muehlemann, Enrico Bertini, Valeria Sansone, Emilio Albamonte, Sonia Messina, Francesco Mari, Elisabetta Cesaroni, Liliana Porfiri, Francesco Danilo Tiziano, Gian Luca Vita, Maria Sframeli, Carmen Bonanno, Nereo Bresolin, Giacomo Comi, Stefania Corti, Monica Nizzardo

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:908-910

مصطلحات موضوعية: Muscular Atrophy, Spinal, Respiratory Distress Syndrome, Newborn, Psychiatry and Mental health, Infant, Newborn, motor neuron disease, Humans, Surgery, Neurology (clinical), Settore MED/03 - GENETICA MEDICA, Nonsense Mediated mRNA Decay

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d5a7b7d4bb5e6427e0200282ec01b6Test
https://doi.org/10.1136/jnnp-2021-326425Test

المؤلفون: Naghia Ahmed, Dario Ronchi, Giacomo Comi

المصدر: International Journal of Molecular Sciences; Volume 16; Issue 8; Pages: 18054-18076

مصطلحات موضوعية: mtDNA maintenance, multiple mtDNA deletions, adult mitochondrial disorders, progressive external ophthalmoplegia, mitochondrial myopathy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms160818054Test

الإتاحة: https://doi.org/10.3390/ijms160818054Test