Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”

by Virginia Arechavala-Gomeza, Lidia Gonzalez-Quereda
Published 2021-02-01

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

by Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano
Published 2018-05-01

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

by Laura Alías, Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Lídia González-Quereda, Pía Gallano, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, Adriana Lasa, María del Prado Venegas
Published 2022-10-01

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

by Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano
Published 2015-01-01

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

by Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa
Published 2011-01-01

Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

by Pau Riera, Benjamín Rodríguez-Santiago, Adriana Lasa, Lidia Gonzalez-Quereda, Berta Martín, Juliana Salazar, Ana Sebio, Anna C. Virgili, Jordi Minguillón, Cristina Camps, Jordi Surrallés, David Páez
Published 2020-08-01

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

by Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano
Published 2013-01-01

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

by Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano
Published 2020-05-01