المؤلفون: Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia

المساهمون: Biosciences, Department of Medical and Clinical Genetics, Medicum, University of Helsinki

مصطلحات موضوعية: NEBULIN, VARIANTS, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Funded by Instituto de Salud Carlos III grant CB16/12/00284 to JVC, Instituto de Salud Carlos III grant PT17/0015/0043, Instituto de Salud Carlos III grant PI16/01113 to JVC, and Muscular Dystrophy UK grant 16NEB-PG36-0094-2 to LS. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Moreau-Le Lan , S , Aller , E , Calabria , I , Gonzalez-Tarancon , L , Cardona-Gay , C , Martinez-Matilla , M , Aparisi , M J , Selles , J , Sagath , L , Pitarch , I , Muelas , N , Cervera , J V , Millan , J M & Pedrola , L 2018 , ' New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy ' , PLoS One , vol. 13 , no. 12 , 0207296 . https://doi.org/10.1371/journal.pone.0207296; ORCID: /0000-0002-6754-3830/work/52399954; http://hdl.handle.net/10138/285188; 17531396-7307-4a7a-a9ac-84ec5bec7576; 85058013353; 000452212400029

الاتاحة: http://hdl.handle.net/10138/285188

المؤلفون: Vázquez-Costa, Juan Francisco, Pedrola Vidal, Laia, Moreau-Le Lan, Sarah, Teresí-Copoví, Irene, Frasquet, Marina, Chumillas, Maria J., Sevilla, Teresa

المساهمون: Instituto de Salud Carlos III

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; volume 20, issue 3-4, page 172-175 ; ISSN 2167-8421 2167-9223

الاتاحة: http://dx.doi.org/10.1080/21678421.2019.1582671
https://www.tandfonline.com/doi/pdf/10.1080/21678421.2019.1582671

المؤلفون: Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia

المساهمون: Kaya, Namik, Instituto de Salud Carlos III

المصدر: PLOS ONE ; volume 13, issue 12, page e0207296 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0207296
http://dx.plos.org/10.1371/journal.pone.0207296