Zobrazeno 1 - 10
of 28
pro vyhledávání: '"translarna"'
Autor:
L. S. Kraeva, E. V. Fadeeva
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 102-107 (2024)
Duchenne muscular dystrophy is a severe genetic disease caused by mutations in the dystrophin gene (DMD), which lead to a significant decrease or complete absence of the protein of the same name in muscle fibers. The disease manifests itself in boys
Externí odkaz:
https://doaj.org/article/9a0d42f4cb8e4d72b1968614215d21b3
Autor:
T. N. Kekeeva, N. L. Pechatnikova, I. P. Vitkovskaya, V. S. Kakaulina, N. A. Krasnoschekova, Yu. E. Martynenko
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 4 (2024)
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder typically manifesting in boys aged 2–5 years, characterized by a progressive course. According to natural disease progression data, individuals with DMD typically los
Externí odkaz:
https://doaj.org/article/d9fc8c8dedb14f85be0350c21d3f794d
Akademický článek
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Autor:
Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Externí odkaz:
https://doaj.org/article/ac1bff66f3e849a7a8d5bf9f1ef8c03c
Autor:
Roy, Bijoyita, Friesen, Westley J., Tomizawa, Yuki, Leszyk, John D., Zhuo, Jin, Johnson, Briana, Dakka, Jumana, Trotta, Christopher R., Xue, Xiaojiao, Mutyam, Venkateshwar, Keeling, Kim M., Mobley, James A., Rowe, Steven M., Bedwell, David M., Welch, Ellen M., Jacobson, Allan
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2016 Nov 01. 113(44), 12508-12513.
Externí odkaz:
https://www.jstor.org/stable/26472308
Autor:
Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Stop codon read-through therapy is available with the drug Ataluren (Translarna® b
Externí odkaz:
https://doaj.org/article/405ae404fd94497e863379476b75ce6c
Autor:
Politano, Luisa
Publikováno v:
Acta Myologica
Dystrophinopathies are allelic conditions caused by deletions, duplications and point-mutations in the DMD gene, located on the X chromosome (Xp21.2). Mutations that prematurely interrupt the dystrophin protein synthesis lead to the most severe clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f05d43051ace060e17defcddff7be31f
http://europepmc.org/articles/PMC8033424
http://europepmc.org/articles/PMC8033424
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Hashim Abdul-Khaliq, Daniel Ebrahimi-Fakhari, Michael Zemlin, Mohammed Ghiath Shamdeen, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Sascha Meyer, Bernhard Mischo
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Stop codon read-through therapy is available with the drug Ataluren (Translarna® b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa84394abf405459a72c1be4597f8a52
https://www.frontiersin.org/article/10.3389/fped.2019.00284/full
https://www.frontiersin.org/article/10.3389/fped.2019.00284/full
Autor:
Martin Poryo, Ulrich Dillmann, Bernhard Mischo, Hashim Abdul-Khaliq, Daniel Ebrahimi-Fakhari, Marina Flotats-Bastardas, Sascha Meyer, Michael Zemlin, Mohammed Ghiath Shamdeen
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 6 (2018)
Frontiers in Pediatrics, Vol 6 (2018)
About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Stop codon read-through therapy is available with the drug Ataluren (Translarna® b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183cab17f3d000fbfce8d83e78f8ccc2
https://doi.org/10.3389/fped.2018.00316
https://doi.org/10.3389/fped.2018.00316