Listar Artículos de revista - Aldizkari artikuluak por autor "García Solaesa, Virginia"
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Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
Pagola Lorz, María Inmaculada; Vicente Cemborain, Esther ; Ibáñez Beroiz, Berta; Torné, Laura; Elizalde Beiras, Itsaso ; García Solaesa, Virginia; González García, Fermín María ; Delfrade Osinaga, J. ; Jericó Pascual, Ivonne (BioMed Central, 2019) Artículo / ArtikuluaBackground: 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 ; Ciosi, Marc; García Amigot, Fermín; García Solaesa, Virginia; Monckton, Darren G.; Ramos Arroyo, María A. (Oxford University Press, 2023) Artículo / ArtikuluaWe 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 ...