• Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region 

      Pagola Lorz, María Inmaculada; Vicente Cemborain, Esther Upna Orcid; Ibáñez Beroiz, Berta; Torné, Laura; Elizalde Beiras, Itsaso Upna Orcid; García Solaesa, Virginia; González García, Fermín María Upna; Delfrade Osinaga, J. Upna; Jericó Pascual, Ivonne (BioMed Central, 2019)   Artículo / Artikulua  OpenAccess
      Background: Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection ...
    • Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease 

      Ruiz de Sabando, Ainara; Urrutia Lafuente, Edurne; Galbete Jiménez, Arkaitz Upna Orcid; Ciosi, Marc; García Amigot, Fermín; García Solaesa, Virginia; Monckton, Darren G.; Ramos Arroyo, María A. (Oxford University Press, 2023)   Artículo / Artikulua  OpenAccess
      We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a ...

      El Repositorio ha recibido la ayuda de la Fundación Española para la Ciencia y la Tecnología para la realización de actividades en el ámbito del fomento de la investigación científica de excelencia, en la Línea 2. Repositorios institucionales (convocatoria 2020-2021).
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