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

Por Arechavala-Gomeza, Virginia, Gonzalez-Quereda, Lidia
Publicado no Genes (Basel) (2021)

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

Por Alías, Laura, Crespi, Jaume, González-Quereda, Lidia, Téllez, Jesús, Martínez, Elisabeth, Bernal, Sara, Gallano, Ma Pia
Publicado no BMC Med Genet (2018)

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

Por Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia
Publicado no PLoS One (2015)

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

Por Gonzalez‐Quereda, Lidia, Pagola, Inmaculada, Fuentes Prior, Pablo, Bernal, Sara, Rodriguez, Maria Jose, Torné, Laura, Salgado Garrido, Josefa, Gallano, Pia, Jericó, Ivonne
Publicado no Ann Clin Transl Neurol (2020)

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

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

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

Por Riera, Pau, Rodríguez-Santiago, Benjamín, Lasa, Adriana, Gonzalez-Quereda, Lidia, Martín, Berta, Salazar, Juliana, Sebio, Ana, Virgili, Anna C., Minguillón, Jordi, Camps, Cristina, Surrallés, Jordi, Páez, David
Publicado no Cancers (Basel) (2020)

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

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

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado no Sci Rep (2019)

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado no Sci Rep (2020)

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Por Juan-Mateu, Jonàs, Rodríguez, Maria José, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, González-Quereda, Lidia, Rivas, Eloy, Paradas, Carmen, Madruga, Marcos, Sánchez-Ayaso, Pedro, Jou, Cristina, González-Mera, Laura, Munell, Francina, Roig-Quilis, Manuel, Rabasa, Maria, Hernández-Lain, Aurelio, Díaz-Manera, Jorge, Gallardo, Eduard, Pascual, Jordi, Verdura, Edgard, Colomer, Jaume, Baiget, Montserrat, Olivé, Montse, Gallano, Pia
Publicado em 2012

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

Por Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Gallardo, Eduard, Nascimento, Andres, Ortez, Carlos, Natera-de Benito, Daniel, Olive, Montse, Gonzalez-Mera, Laura, Lopez de Munain, Adolfo, Zulaica, Miren, Poza, Juan Jose, Jerico, Ivonne, Torne, Laura, Riera, Pau, Milisenda, Jose, Sanchez, Aurora, Garrabou, Gloria, Llano, Isabel, Madruga-Garrido, Marcos, Gallano, Pia
Publicado no Genes (Basel) (2020)