Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus
Published in Annals of neurology (01.11.2022)
Published in Annals of neurology (01.11.2022)
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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes
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
Published in PloS one (25.03.2013)
Published in PloS one (25.03.2013)
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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family
Alías, Laura, Crespi, Jaume, González-Quereda, Lidia, Téllez, Jesús, Martínez, Elisabeth, Bernal, Sara, Gallano, Ma Pia
Published in BMC medical genetics (11.05.2018)
Published in BMC medical genetics (11.05.2018)
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Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease
Gonzalez‐Quereda, Lidia, Pagola, Inmaculada, Fuentes Prior, Pablo, Bernal, Sara, Rodriguez, Maria Jose, Torné, Laura, Salgado Garrido, Josefa, Gallano, Pia, Jericó, Ivonne
Published in Annals of clinical and translational neurology (01.01.2021)
Published in Annals of clinical and translational neurology (01.01.2021)
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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia
Published in PloS one (18.08.2015)
Published in PloS one (18.08.2015)
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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Alonso-Pérez, Jorge, González-Quereda, Lidia, Bruno, Claudio, Panicucci, Chiara, Alavi, Afagh, Nafissi, Shahriar, Nilipour, Yalda, Zanoteli, Edmar, Isihi, Lucas Michielon de Augusto, Melegh, Béla, Hadzsiev, Kinga, Muelas, Nuria, Vílchez, Juan J, Dourado, Mario Emilio, Kadem, Naz, Kutluk, Gultekin, Umair, Muhammad, Younus, Muhammad, Pegorano, Elena, Bello, Luca, Crawford, Thomas O, Suárez-Calvet, Xavier, Töpf, Ana, Guglieri, Michela, Marini-Bettolo, Chiara, Gallano, Pia, Straub, Volker, Díaz-Manera, Jordi
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, Domínguez-González, Cristina
Published in Neuromuscular disorders : NMD (01.12.2023)
Published in Neuromuscular disorders : NMD (01.12.2023)
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Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization
Natera‐de Benito, Daniel, Muchart, Jordi, Itzep, Debora, Ortez, Carlos, González‐Quereda, Lidia, Gallano, Pía, Ramirez, Alia, Aparicio, Javier, Domínguez‐Carral, Jana, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Pardo Cardozo, Nathalia, Cuadras, Daniel, Codina, Anna, Jou, Cristina, Jimenez‐Mallebrera, Cecilia, Palau, Francesc, Colomer, Jaume, Arzimanoglou, Alexis, Nascimento, Andrés, San Antonio‐Arce, Victoria
Published in Epilepsia (Copenhagen) (01.05.2020)
Published in Epilepsia (Copenhagen) (01.05.2020)
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Cylindrical spirals in two families: Clinical and genetic investigations
Beecroft, Sarah J, Olive, Montse, Quereda, Lidia Gonzalez, Gallano, Pia, Ojanguren, Isabel, McLean, Catriona, McCombe, Pamela, Laing, Nigel G, Ravenscroft, Gianina
Published in Neuromuscular disorders : NMD (01.02.2020)
Published in Neuromuscular disorders : NMD (01.02.2020)
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Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands
Alonso‐Pérez, Jorge, de León Hernández, Juan Carlos, Pérez‐Pérez, Helena, Mendoza‐Grimón, María Dolores, Gutierrez‐Martinez, Antonio José, Hadjigeorgiou, Ioanna, Montón‐Álvarez, Fernando, González‐Quereda, Lidia, Alonso‐Jimenez, Alicia, Suárez‐Calvet, Xavier, Díaz‐Manera, Jordi
Published in European journal of neurology (01.05.2022)
Published in European journal of neurology (01.05.2022)
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Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
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
Published in Scientific reports (01.10.2019)
Published in Scientific reports (01.10.2019)
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Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
Díaz-Manera, Jordi, Alejaldre, Aida, González, Laura, Olivé, Montse, Gómez-Andrés, David, Muelas, Nuria, Vílchez, Juan José, Llauger, Jaume, Carbonell, Pilar, Márquez-Infante, Celedonio, Fernández-Torrón, Roberto, Poza, Juan José, López de Munáin, Adolfo, González-Quereda, Lidia, Mirabet, Sonia, Clarimon, Jordi, Gallano, Pía, Rojas-García, Ricard, Gallardo, Eduard, Illa, Isabel
Published in Neuromuscular disorders : NMD (01.01.2016)
Published in Neuromuscular disorders : NMD (01.01.2016)
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Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy
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
Published in PloS one (16.12.2011)
Published in PloS one (16.12.2011)
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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
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
Published in Orphanet journal of rare diseases (23.10.2012)
Published in Orphanet journal of rare diseases (23.10.2012)
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, González-Quereda, Lidia, Alonso-Pérez, Jorge, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Montiel, Elena, Segovia, Sonia, Suárez-Calvet, Xavier, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Barba-Romero, Miguel Angel, Barcena, Joseba, Paradas, Carmen, Carzorla, María Rosario, Creus, Carlota, Coll-Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Fernández-Torrón, Roberto, García-Antelo, Maria José, Grau, Josep Maria, López de Munáin, Adolfo, Martínez-García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Morís, Germán, Muñoz-Blanco, Miguel Angel, Nascimento, Andres, Parajuá-Pozo, José Luis, Querol, Luis, Rojas, Ricard, Robledo-Strauss, Arturo, Rojas-Marcos, Íñigo, Salazar, Jose António, Usón, Mercedes, Díaz-Manera, Jordi
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Alías, Laura, López de Heredia, Miguel, Luna, Sabina, Clivillé, Núria, González-Quereda, Lídia, Gallano, Pía, de Juan, Júlia, Pujol, Albert, Diez, Santiago, Boronat, Susana, Orús, César, Lasa, Adriana, Venegas, María del Prado
Published in Frontiers in genetics (18.10.2022)
Published in Frontiers in genetics (18.10.2022)
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Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
Palones, Esther, Curto, Elena, Plaza, Vicente, Gonzalez-Quereda, Lidia, Segarra-Casas, Alba, Querol, Luis, Bertoletti, Federico, Rodriguez, María José, Gallano, Pía, Crespo-Lessmann, Astrid
Published in Journal of neurology (01.03.2024)
Published in Journal of neurology (01.03.2024)
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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Segarra-Casas, Alba, Domínguez-González, Cristina, Hernández-Laín, Aurelio, Sanchez-Calvin, Maria Teresa, Camacho, Ana, Rivas, Eloy, Campo-Barasoain, Andrea, Madruga, Marcos, Ortez, Carlos, Natera-de Benito, Daniel, Nascimento, Andrés, Codina, Anna, Rodriguez, Maria Jose, Gallano, Pia, Gonzalez-Quereda, Lidia
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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