Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mar Costa-Roger"'
Autor:
Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco‐Pérez, Mar Costa‐Roger, Eduardo F. Tizzano, Charlotte J. Sumner, Katherine D. Mathews
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 11, Pp 3042-3046 (2024)
Abstract Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene‐abeparvovec (OA) at 3.5 weeks of life. They had no treatment‐related adverse events, normal acquisition of motor milestones, and normal neur
Externí odkaz:
https://doaj.org/article/d5dc5d12e75c4010864e8957627976d6
Autor:
Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano
Publikováno v:
European Journal of Human Genetics. 31:223-230
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5
https://doi.org/10.1038/s41431-022-01240-5
Publikováno v:
Scientia
Carrier screening; Diagnosis; Spinal muscular atrophy Cribado de portadores; Diagnóstico; Atrofia muscular espinal Cribratge de portadors; Diagnòstic; Atròfia muscular espinal Genetic testing for SMA diagnosis, newborn screening, and carrier scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f065eeaa023996737c78c81f18b618f
https://hdl.handle.net/11351/8475
https://hdl.handle.net/11351/8475
Autor:
Laura, Blasco-Pérez, Mar, Costa-Roger, Jordi, Leno-Colorado, Sara, Bernal, Laura, Alias, Marta, Codina-Solà, Desirée, Martínez-Cruz, Claudia, Castiglioni, Enrico, Bertini, Lorena, Travaglini, José M, Millán, Elena, Aller, Javier, Sotoca, Raúl, Juntas, Christina Engel, Hoei-Hansen, Antonio, Moreno-Escribano, Encarna, Guillén-Navarro, Laura, Costa-Comellas, Francina, Munell, Susana, Boronat, Ricardo, Rojas-García, Mónica, Povedano, Ivon, Cuscó, Eduardo F, Tizzano
Publikováno v:
International journal of molecular sciences. 23(15)
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d381ab938f0fd2ef1659addc414b7aa6
https://pubmed.ncbi.nlm.nih.gov/35955418
https://pubmed.ncbi.nlm.nih.gov/35955418
Publikováno v:
Scientia
International Journal of Molecular Sciences, Vol 22, Iss 9029, p 9029 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 9029, p 9029 (2021)
International Journal of Molecular Sciences
Estructura híbrida; Atrofia muscular espinal; Neurona motora de supervivencia 1 Hybrid structure; Spinal muscular atrophy; Survival motor neuron 1 Estructura híbrida; Atròfia muscular espinal; Neurona motora de supervivència 1 After 26 years of d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d37c329ed7f0b059bb7b553698584d5b
https://doi.org/10.3390/ijms22169029
https://doi.org/10.3390/ijms22169029
Autor:
Marta Codina-Solà, Ivon Cuscó, Debora Perez-Garcia, Raquel Flores, Mar Costa-Roger, Luis A. Pérez-Jurado, Maria Gabriela Palacios-Verdú
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Journal of Medical Genetics
Universitat Autònoma de Barcelona
Journal of Medical Genetics
Funding this work was funded by grants from the Spanish Ministry of economy and competiveness (FiS Pi16/00369 and Pi1302481 cofunded by FeDer, and 'Programa de excelencia María de Maeztu' MDM-2014-0370), and the generalitat de catalunya (2017Srg0197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80a52d82018de58879acf68d5597025
https://ddd.uab.cat/record/223850
https://ddd.uab.cat/record/223850