Molecular characterization of congenital myasthenic syndromes in Spain
Daniel Natera‐de Benito(Hospital Sant Joan de Déu Barcelona), A. Nascimento(Centre for Biomedical Network Research on Rare Diseases), Montse Olivé(Universitat Autònoma de Barcelona), Lidia González‐Quereda(Centre for Biomedical Network Research on Rare Diseases), Teresinha Evangelista(Newcastle University), María Concepción Miranda-Herrero(Hospital General Universitario Gregorio Marañón), David Beeson(University of Oxford), M Bestué(Hospital General San Jorge), Nuria Muelas(Hospital Universitari i Politècnic La Fe), Jana Domínguez‐Carral(Marqués de Valdecilla University Hospital), Yoshiteru Azuma(Newcastle University), Ainhoa García-Ribes(Hospital de Cruces), C. Ortez(Hospital Sant Joan de Déu Barcelona), Hanns Lochmüller(University of Ottawa), Jan Senderek(Friedrich Baur Stiftung), Elisa Jiménez(Hospital Universitario Rey Juan Carlos), A. Santana-Artiles(Hospital Universitario Insular de Gran Canaria), Alonso Merchán(Bellvitge University Hospital), Grace McMacken(Newcastle University), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Jordi Díaz‐Manera(Newcastle upon Tyne Hospitals NHS Foundation Trust), Pedro M. Rodríguez Cruz(Centre Hospitalier National Universitaire de Fann), Marina Dusl(Friedrich Baur Stiftung), Óscar García‐Campos(Hospital Virgen de la Salud), Juan J. Vílchez(Universitat de València), P. Gallano(Hospital de Sant Pau), Jaume Colomer(Hospital Sant Joan de Déu Barcelona), Juliane S. Müller(Newcastle University), Ana Camacho, Angela Abicht(Medical Genetics Center), Raúl Dominguez-Rubio(Institut d'Investigació Biomédica de Bellvitge)
Cited by 79
Related Papers
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809
Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis
|The Lancet Neurology|2018|645
Mutations in dynamin 2 cause dominant centronuclear myopathy
|Nature Genetics|2005|462
Radiation Dose and Second Cancer Risk in Patients Treated for Cancer of the Cervix
|Radiation Research|1988|397
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
|The American Journal of Human Genetics|2012|338