Zobrazeno 1 - 4
of 4
pro vyhledávání: '"A. V. Shatillo"'
Autor:
L. V. Popovych, A. V. Shatillo, N. B. Zelinska, L. V. Tavokina, O. V. Gorodna, G. B. Livshits, D. A. Sirokha, L. A. Livshits
Publikováno v:
Cytology and Genetics. 56:417-422
Publikováno v:
International Journal of Biomedicine, Vol 4, Iss 4, Pp 226-230 (2014)
Background: Limb girdle muscular dystrophies (LGMDs) and several other disorders which share their specific phenotype are rare, predominantly hereditary conditions with no curative treatment. Differential diagnosis of these myopathies is quite challe
Externí odkaz:
https://doaj.org/article/07164f21dbd146cdaf66f7b12dd68ec6
Autor:
Cristina Rusu, Selma Dounia Bensemmane, Mingyan Fang, Magdalena Sandu, Lyudmilla Angelova, Marcella Neri, Veneta Bojinova, Jadranka Sekelj Fureš, Fernanda Fortunato, Ivan Litvinenko, Maria Judith Molnar, Anna Potulska-Chromik, Oussama Dendane, C. Burloiu, Samira Makri-Mokrane, Daniela Vasile, Monica Panzaru, Zhiyuan Lu, Yamina Sifi, Niculina Butoianu, Oana Alexandra Iuhas, Birute Burnyte, Butnariu Lacramioara, Rachele Rossi, Djawed Bouchenak Khelladi, Ivan Lehman, Cecilia Trabanelli, Velina Guergueltcheva, Mariela Militaru, Léna Szabó, Anna Lusakowska, Mihaela Vintan, Sanja Delin, Monica Mager, Anna Kostera-Pruszczyk, Gabriela Visa, Agnes Herczegfalvi, Yurtsever Vildan, Andriy V. Shatillo, Dmitry Vlodavets, Balint Fekete, Adela Chirita Emandi, Rita Selvatici, Ivan S. Ivanov, Francesca Gualandi, Alessandra Ferlini, Alice Margutti, Diana Epure, Theodore Kyriakides
Publikováno v:
Neurology Genetics
Neurology genetics, Philadelphia : Lippincot Williams & Wilkins, 2021, vol. 7, iss. 1, art. no. e536, p. [1-12]
Neurology: Genetics
article-version (Version of Record) 3
Neurology genetics, Philadelphia : Lippincot Williams & Wilkins, 2021, vol. 7, iss. 1, art. no. e536, p. [1-12]
Neurology: Genetics
article-version (Version of Record) 3
ObjectiveGenetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin (DMD) gene mutations, either for disease prevention or personalized therapies. To evaluate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d68b8b9b14e4902793ab448668394d
https://www.bib.irb.hr/1113042
https://www.bib.irb.hr/1113042
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