Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype

Autor: Emma Koehorst, Alejandro Lucia, Alicia Martínez-Piñeiro, Shaliza Ann Hanick, Marta Lopez-Osias, Alfonsina Ballester-Lopez, Nicolau Guanyabens, Gisela Nogales-Gadea, Miriam Almendrote, Giuseppe Lucente, Jaume Coll-Cantí, Alba Ramos-Fransi, Adrián Suárez-Mesa, Guillem Pintos-Morell, Ian Linares-Pardo, Jakub Chojnacki, Judit Núñez-Manchón

Publikováno v: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Neurology-Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Neurology: Genetics

ObjectiveWe aimed to determine whether 3D imaging reconstruction allows identifying molecular:clinical associations in myotonic dystrophy type 1 (DM1).MethodsWe obtained myoblasts from 6 patients with DM1 and 6 controls. We measured cytosine-thymine-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f61c190fcd0ae06fcd171295ac2ab1
https://hdl.handle.net/11268/9157