Zobrazeno 1 - 10
of 645
pro vyhledávání: '"L-CMD"'
Autor:
Siciliano, Gabriele1 gabriele.siciliano@unipi.it, Vadi, Gabriele1, Torri, Francesca1, Rende, Mariaconcetta1, Lattanzi, Giovanna2, Ricci, Giulia1
Publikováno v:
European Journal of Translational Myology. 2023, Vol. 33 Issue 2, p37-39. 3p.
Autor:
Martínez Olorón, Patricia1,2 (AUTHOR) josune.alegria.echauri@navarra.es, Alegría, Iosune1 (AUTHOR), Cesar, Sergi3,4 (AUTHOR) sergio.cesar@sjd.es, del Olmo, Bernat5,6 (AUTHOR) bdelolmo@gencardio.com, Martínez-Barrios, Estefanía3,4 (AUTHOR) estefania.martinez@sjd.es, Carrera-García, Laura7,8 (AUTHOR) laura.carrera@sjd.es, Natera-de Benito, Daniel7,8,9 (AUTHOR) daniel.natera@sjd.es, Nascimento, Andrés7,8,9 (AUTHOR) andres.nascimento@sjd.es, Campuzano, Oscar5,6,10 (AUTHOR) oscar@brugada.org, Sarquella-Brugada, Georgia3,4,5,11 (AUTHOR) georgia@brugada.org
Publikováno v:
International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5836. 10p.
Autor:
Azibani, F., Arandel, L., Beuvin, M., Jollet, A., Prudhon, B., Lorain, S., Bertrand, A., Bonne, G. *
Publikováno v:
In Neuromuscular Disorders October 2015 25 Supplement 2:S280-S280
Autor:
Feriel Azibani, Anne Bertrand
Publikováno v:
Orphanet Journal of Rare Diseases
LMNA-related Congenital Muscular Dystrophy (L-CMD) is a rare genetic disorder characterized by the onset of selective axial weakness and wasting in the first year of life with limited motor achievements, associated with multiple severe contractures a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92649852927f88d6c11730472669434d
http://europepmc.org/articles/PMC4652526
http://europepmc.org/articles/PMC4652526
Autor:
Gisèle Bonne, Stéphanie Lorain, Bernard Prudhon, Anne Bertrand, L. Arandel, Feriel Azibani, Maud Beuvin, A. Jollet
Publikováno v:
Neuromuscular Disorders. 25:S280
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd76bf83615ee695b854a9aabbe8c320
https://doi.org/10.1016/j.nmd.2015.06.338
https://doi.org/10.1016/j.nmd.2015.06.338
Akademický článek
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Autor:
Gisèle Bonne, A. Barois, Pascale Guicheney, Nigel F. Clarke, Ana Ferreiro, Caroline Sewry, Jean-Marie Cuisset, Susana Quijano-Roy, Carsten G. Bönnemann, Pierre-Yves Jeannet, Brigitte Estournet, E. Bertini, P. Richard, Alessandra D'Amico, L. Demay, Helen Roper, Jaume Colomer, Norma B. Romero, R. Ben Yaou, Francesco Muntoni, B. Mbieleu, L. De Meirleir
Publikováno v:
Neuromuscular Disorders. 17:797-798
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7c13928472bb23d7637bbbaaf3e8094
https://doi.org/10.1016/j.nmd.2007.06.125
https://doi.org/10.1016/j.nmd.2007.06.125
Autor:
Cesar, Sergi, Coll, Monica, Fiol, Victoria, Fernandez-Falgueras, Anna, Cruzalegui, Jose, Iglesias, Anna, Moll, Isaac, Perez-Serra, Alexandra, Martínez-Barrios, Estefanía, Ferrer-Costa, Carles, del Olmo, Bernat, Puigmulè, Marta, Alcalde, Mireia, Lopez, Laura, Pico, Ferran, Berrueco, Rubén, Brugada, Josep, Zschaeck, Irene, Natera-de Benito, Daniel, Carrera-García, Laura
Publikováno v:
Frontiers in Genetics; 3/24/2023, Vol. 14, p01-13, 13p
Autor:
Quijano-Roy, S., Mbieleu, B., Bönnemann, C., Jeannet, P., Colomer, J., Clarke, N., Cuisset, J., Roper, H., De Meirleir, L., D’Amico, A., Ben Yaou, R., Barois, A., Demay, L., Romero, N., Sewry, C., Bertini, E., Ferreiro, A., Muntoni, F., Guicheney, P., Richard, P., Bonne, G., Estournet, B.
Publikováno v:
In Neuromuscular Disorders 2007 17(9):797-798
Autor:
Afkhami, Mojgan1 (AUTHOR) mojgan.afkhami@yahoo.com, Khashyarmanesh, Kazem2 (AUTHOR), Tavakoli, Mostafa3 (AUTHOR)
Publikováno v:
Bulletin of the Malaysian Mathematical Sciences Society. Nov2022, Vol. 45 Issue 6, p2865-2883. 19p.