Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Muscular Dystrophy Duchenne/genetics"'
Autor:
El Andari, Jihad, Renaud-Gabardos, Edith, Tulalamba, Warut, Weinmann, Jonas, Mangin, Louise, Pham, Quang Hong, Hille, Susanne, Bennett, Antonette, Attebi, Esther, Bourges, Emanuele, Leborgne, Christian, Guerchet, Nicolas, Fakhiri, Julia, Krämer, Chiara, Wiedtke, Ellen, McKenna, Robert, Guianvarc'h, Laurence, Toueille, Magali, Ronzitti, Giuseppe, Hebben, Matthias, Mingozzi, Federico, VandenDriessche, Thierry, Agbandje-McKenna, Mavis, Müller, Oliver J, Chuah, Marinee K, Buj-Bello, Ana, Grimm, Dirk, Pham, Hong Quang
Publikováno v:
Science advances. 8(38)
Bioengineering of viral vectors for therapeutic gene delivery is a pivotal strategy to reduce doses, facilitate manufacturing, and improve efficacy and patient safety. Here, we engineered myotropic adeno-associated viral (AAV) vectors via a semiratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1802a78d5693576bd9659f7157341ee9
https://pubmed.ncbi.nlm.nih.gov/36129972
https://pubmed.ncbi.nlm.nih.gov/36129972
Autor:
Laurila, Pirkka-Pekka, Luan, Peiling, Wohlwend, Martin, Zanou, Nadège, Crisol, Barbara, Imamura de Lima, Tanes, Goeminne, Ludger J. E., Gallart-Ayala, Hector, Shong, Minho, Ivanisevic, Julijana, Place, Nicolas, Auwerx, Johan
Publikováno v:
Science advances, vol. 8, no. 4, pp. eabh4423
Science Advances
Science Advances
Duchenne muscular dystrophy (DMD), the most common muscular dystrophy, is a severe muscle disorder, causing muscle weakness, loss of independence, and premature death. Here, we establish the link between sphingolipids and muscular dystrophy. Transcri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6c980229bab1e5478c567e454e76cd5
https://serval.unil.ch/resource/serval:BIB_95F002D1A653.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_95F002D1A653.P001/REF.pdf
Autor:
Fabiane Rosa Rezende H. Marui, José Marcos Thalenberg, Natascha G. F. Palmeira, Acary Souza Bulle Oliveira, Maria Teresa Nogueira Bombig, Fernando Focaccia Póvoa, Rui Póvoa, Maria Cristina de Oliveira Izar, Henrique Tria Bianco, Francisco Antonio Helfenstein Fonseca
Publikováno v:
Arquivos Brasileiros de Cardiologia v.110 n.6 2018
Arquivos Brasileiros de Cardiologia
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
Arquivos Brasileiros de Cardiologia, Volume: 110, Issue: 6, Pages: 551-557, Published: JUN 2018
Arquivos Brasileiros de Cardiologia, Vol 110, Iss 6, Pp 551-557
Arquivos Brasileiros de Cardiologia
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
Arquivos Brasileiros de Cardiologia, Volume: 110, Issue: 6, Pages: 551-557, Published: JUN 2018
Arquivos Brasileiros de Cardiologia, Vol 110, Iss 6, Pp 551-557
Background: Duchenne muscular dystrophy is an X-chromosome-linked genetic disorder (locus Xp21). Involvement of the cardiovascular system is characterized by fibrous degeneration/replacement of myocytes with consequent ventricular hypertrophy and art
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5bd904f1d10ad65879459865ca5d280
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2018000600551
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2018000600551
Autor:
Alessandra Ferlini, David Salgado, Velina Guergueltcheva, Olivia Schreiber-Katz, Zaïda Koeks, Grace McMacken, Hugh Dawkins, Jan Kirschner, Angela Stringer, Vedrana Milic Rasic, Teodora Chamova, Sophelia H. S. Chan, Hanns Lochmüller, Lawrence Korngut, Jan J.G.M. Verschuuren, Maggie C. Walter, Clemens Bloetzer, Jordi Díaz-Manera, Veronika Karcagi, Nina Barišić, Tunca Oznur, Andriy V. Shatillo, Ann Martin, Rasha El Sherif, Yi Dai, Kyriaki Kekou, Jaana Lahdetie, Andrea Klein, Rosário Santos, Holly L. Peay, Haluk Topaloglu, Elena Neagu, Maria E. Foncuberta, Richard Roxburgh, Kevin M. Flanigan, Miriam Rodrigues, Kate Bushby, Farhad Bayat, Petr Brabec, Christophe Béroud, Catherine L. Bladen, Jen Wang, Matthew I. Bellgard, Venkatarman Viswanathan, Svetlana Artemieva, Anna Lusakowska, Konstantina Kosma, Manuel Posada, Agnes Herczegfalvi, Soledad Monges, Anna Kostera-Pruszczyk, Dina Vojinovic, Volker Straub, Anna J. Roy, En Kimura, Janneke C. van den Bergen, Filippo Buccella, Leanne Lamont, Erik W. van Zwet, Craig Campbell, Oksana Pogoryelova, Eduard Gallardo, Marta Garami, Ayşe Karaduman
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Paediatrics Publications
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
Paediatrics Publications
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is req
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649eb05eacc507eb3dd6be6b40bd7e5b
https://hdl.handle.net/20.500.12105/15573
https://hdl.handle.net/20.500.12105/15573
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Autor:
Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Jan, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmuller, Hanns, Foncuberta, Maria E., Walter, Maggie C., Karaduman, A. Ayşe, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Flanigan, Kevin M.
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Human mutation, vol. 36, no. 4, pp. 395-402
Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758
Paediatrics Publications
Human Mutation, 36(4), 395-402
Human Mutation, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Human Mutation, Wiley, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Human mutation, vol. 36, no. 4, pp. 395-402
Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758
Paediatrics Publications
Human Mutation, 36(4), 395-402
Human Mutation, 2015, 36 (4), pp.395-402. ⟨10.1002/humu.22758⟩
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96189d3d8ffce6386eb116f714ad246c
https://hdl.handle.net/1887/107191
https://hdl.handle.net/1887/107191
Autor:
Sanjeev Rajakulendran, Thierry Kuntzer, Murielle Dunand, Shu C. Yau, Emma J. Ashton, Helen Storey, Joanna McCauley, Stephen Abbs, Francine Thonney, France Leturcq, Johannes A. Lobrinus, Tarek Yousry, Simon Farmer, Janice L. Holton, Michael G. Hanna
Publikováno v:
Archives of Neurology, Vol. 67, No 4 (2010) pp. 497-500
ResearcherID
Archives of Neurology, vol. 67, no. 4, pp. 497-500
ResearcherID
Archives of Neurology, vol. 67, no. 4, pp. 497-500
Objective To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40386fe11a5d3b5f9b7b4fe14aa3acfe
https://archive-ouverte.unige.ch/unige:21243
https://archive-ouverte.unige.ch/unige:21243
Akademický článek
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Autor:
Fabiane R. R. H. Marui, Henrique Tria Bianco, Maria Teresa N. Bombig, Natascha G. F. Palmeira, José M. Thalenberg, Fernando Focaccia Povoa, Maria Cristina de O. Izar, Francisco Antonio H. Fonseca, Acary S. B. de Oliveira, Rui M. S. Povoa
Publikováno v:
Arquivos Brasileiros de Cardiologia, Vol 110, Iss 6, Pp 551-557
Abstract Background: Duchenne muscular dystrophy is an X-chromosome-linked genetic disorder (locus Xp21). Involvement of the cardiovascular system is characterized by fibrous degeneration/replacement of myocytes with consequent ventricular hypertroph
Externí odkaz:
https://doaj.org/article/bec4db8426aa451c810fabe9aaf876ba
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Marcio Madeira, Ranchordás, Sara, Nolasco, Tiago, Marques, Marta, Rebocho, Maria José, Neves, José
Publikováno v:
BASE-Bielefeld Academic Search Engine
CIÊNCIAVITAE
International Journal of Cardiovascular Sciences v.31 n.1 2018
International Journal of Cardiovascular Sciences
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
International Journal of Cardiovascular Sciences, Volume: 31, Issue: 1, Pages: 82-84, Published: FEB 2018
CIÊNCIAVITAE
International Journal of Cardiovascular Sciences v.31 n.1 2018
International Journal of Cardiovascular Sciences
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
International Journal of Cardiovascular Sciences, Volume: 31, Issue: 1, Pages: 82-84, Published: FEB 2018
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::065754738d271bd45bbd7d3523ab8727
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472018000100082
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472018000100082