Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Duchenne muscular dystrophies"'
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Duchenne muscular dystrophy (DMD) is an X-linked recessive inherited disorder caused by the absence of the Dystrophin protein. Cerebral cavernous malformations (CCMs) are the most common vascular abnormalities in the central nervo
Externí odkaz:
https://doaj.org/article/ce31f180a8d74b6187cfc6e3248d1eac
Akademický článek
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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:
Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius
Publikováno v:
Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publications
BACKGROUND: Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595d3fa7afbaf20dfa8bca3b7d7c45ea
https://pubmed.ncbi.nlm.nih.gov/28728957
https://pubmed.ncbi.nlm.nih.gov/28728957
Kniha
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Autor:
Fayssoil, Abdallah
Les myopathies d’origine génétique sont des pathologies musculaires en rapport avec des anomalies génétiques. Les myopathies sont à l’origine d’un handicap physique majeur et affectent souvent la fonction respiratoire et parfois le cœur.
Externí odkaz:
http://www.theses.fr/2014VERS0062/document
Autor:
Fayssoil, Abdallah
Publikováno v:
Génétique humaine. Université de Versailles-Saint Quentin en Yvelines, 2014. Français. ⟨NNT : 2014VERS0062⟩
Muscular dystrophies are genetic neuromuscular disorders that affect skeletal muscle. We sought to assess heat involvement in four genetic muscular disorders : Duchenne muscular dystrophy, sarcoglycanopathies, MELAS and adulte Pompe disease. In anima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0550a95d0cf5f6909716cf1b9682f273
https://tel.archives-ouvertes.fr/tel-01234198
https://tel.archives-ouvertes.fr/tel-01234198
Autor:
Steen, Michelle Sabrina.
Publikováno v:
Connect to this title online; UW restricted.
Thesis (Ph. D.)--University of Washington, 2008.
Vita. Includes bibliographical references (leaves 137-156).
Vita. Includes bibliographical references (leaves 137-156).
Externí odkaz:
http://hdl.handle.net/1773/10537