المؤلفون: William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14Test

المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.910660/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13Test

المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)

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

وصف الملف: electronic resource

العلاقة: https://nmb.abvpress.ru/jour/article/view/168Test; https://doaj.org/toc/2222-8721Test; https://doaj.org/toc/2413-0443Test

الوصول الحر: https://doaj.org/article/4ec0d1645281460598905760d4b17f8aTest

المؤلفون: Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly

المصدر: Journal of Clinical Medicine, Vol 8, Iss 7, p 991 (2019)

مصطلحات موضوعية: mitochondrial diseases, TPK1, thiamine pyrophosphate, Leigh syndrome, thiamine deficiency, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/8/7/991Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/1816ad95b194492d95ead17de5cc4149Test

المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)

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

العلاقة: https://nmb.abvpress.ru/jour/article/view/168Test; https://doaj.org/toc/2222-8721Test; https://doaj.org/toc/2413-0443Test; https://doaj.org/article/4ec0d1645281460598905760d4b17f8aTest

الإتاحة: https://doi.org/10.17650/2222-8721-2016-6-3-24-27Test
https://doaj.org/article/4ec0d1645281460598905760d4b17f8aTest

المؤلفون: Federica Trucco, Deborah Ridout, Joana Domingos, Kate Maresh, Mary Chesshyre, Pinki Munot, Anna Sarkozy, Stephanie Robb, Rosaline Quinlivan, Mollie Riley, Colin Wallis, Elaine Chan, Francois Abel, Silvana De Lucia, Jean‐Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Valeria Ricotti, Adnan Manzur, Francesco Muntoni

المساهمون: Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francoi, De Lucia, Silvana, Hogrel, Jean‐yve, Niks, Erik H., de Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco

مصطلحات موضوعية: Duchenne muscular dystrophy, exon skipping, forced vital capacity, genotype, respiratory function

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34606104; info:eu-repo/semantics/altIdentifier/wos/WOS:000711484700001; volume:65; firstpage:67; lastpage:74; numberofpages:8; journal:MUSCLE & NERVE; https://hdl.handle.net/11567/1155339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118321421

الإتاحة: https://doi.org/10.1002/mus.27427Test
https://hdl.handle.net/11567/1155339Test

المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Neuromuscular Diseases; Том 6, № 3 (2016); 24-27 ; Нервно-мышечные болезни; Том 6, № 3 (2016); 24-27 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2016-6-3

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2222-8721-2016-6-3-24-27Test
https://doi.org/10.17650/2222-8721-2016-6-3Test
https://doi.org/10.1016/S0140-6736Test(08)61555-X
https://doi.org/10.1186/1750-1172-6-34Test
https://doi.org/10.1002/ajmg.c.31322Test
https://doi.org/10.1002/ajmg.a.36110Test
https://doi.org/10.1007/s10545Test
https://doi.org/10.1016/jTest
https://doi.org/10.1136/jnnp-2014-310164Test
https://doi.org/10.1016/j.nmd.2014.06.438Test

المؤلفون: Alessandro Colasanti, Enrico Bugiardini, Sami Amawi, Olivia V Poole, Iwona Skorupinska, Mariola Skorupinska, Louise Germain, Damian Kozyra, Sarah Holmes, Natalie James, Cathy E Woodward, Rosaline Quinlivan, Allan H Young, Michael G Hanna, Robert D S Pitceathly

مصطلحات موضوعية: mitochondrial disorders, psychiatry

العلاقة: 10779/uos.23479745.v1; https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745Test

الإتاحة: https://figshare.com/articles/journal_contribution/_Letter_Primary_mitochondrial_diseases_increase_susceptibility_to_bipolar_affective_disorder/23479745Test

المؤلفون: Baranello, Giovanni, Mercuri, Eugenio, Stefania Bianchi Marzoli, Claudio Bruno, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis

المساهمون: Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicola, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent, FIREFISH Working Group: Joseph, J Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Edmar, Zanoteli, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Wang, Yi, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Hui, Xiong, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina Galiot Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Bianchi Marzoli, Stefania, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Claudio, Bruno, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi

مصطلحات موضوعية: Administration, Oral, Azo Compounds, Dose-Response Relationship, Drug, Female, Humans, Infant, Male, Neuromuscular Agents, Progression-Free Survival, Pyrimidines, RNA Splicing, Respiratory Insufficiency, Respiratory Tract Infections, Spinal Muscular Atrophies of Childhood, Survival of Motor Neuron 1 Protein, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33626251; info:eu-repo/semantics/altIdentifier/wos/WOS:000687279800011; volume:384; issue:10; firstpage:915; lastpage:923; numberofpages:9; issueyear:2021; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/10807/213685Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102430550

الإتاحة: https://doi.org/10.1056/NEJMoa2009965Test
http://hdl.handle.net/10807/213685Test

المؤلفون: Baranello, Giovanni, Eugenio Mercuri, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis

المساهمون: Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini

مصطلحات موضوعية: Azo Compounds, Female, Historically Controlled Study, Humans, Infant, Male, Motor Skills, Neuromuscular Agents, Progression-Free Survival, Pyrimidines, Severity of Illness Index, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34320287; info:eu-repo/semantics/altIdentifier/wos/WOS:000684497600011; volume:385; issue:5; firstpage:427; lastpage:435; numberofpages:9; issueyear:2021; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/10807/213667Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111558253

الإتاحة: https://doi.org/10.1056/NEJMoa2102047Test
http://hdl.handle.net/10807/213667Test