A new phenotype of dysferlinopathy with congenital onset
Paradas, C, González-Quereda, L, De Luna, N, Gallardo, E, García-Consuegra, I, Gómez, H, Cabello, A, Illa, I, Gallano, P
Published in Neuromuscular disorders : NMD (01.01.2009)
Published in Neuromuscular disorders : NMD (01.01.2009)
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Journal Article
Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
Juan-Mateu, J, Paradas, C, Olivé, M, Verdura, E, Rivas, E, González-Quereda, L, Rodríguez, MJ, Baiget, M, Gallano, P
Published in Clinical genetics (01.12.2012)
Published in Clinical genetics (01.12.2012)
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Journal Article
P.2.14 Isolated cognitive abnormalities associated to DMD mutations
Juan-Mateu, J, González-Quereda, L, Rodriguez, M.J, Jou, C, Nascimento, A, Jimenez-Mallebrera, C, Colomer, J, Baiget, M, Olive, M, Gallano, P
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
Molecular characterization of congenital myasthenic syndromes in Spain
Natera-de Benito, D., Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.
Published in Neuromuscular disorders : NMD (01.12.2017)
Published in Neuromuscular disorders : NMD (01.12.2017)
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Journal Article
Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
Vieitez, I, Gallano, P, González-Quereda, L, Borrego, S, Marcos, I, Millán, J.M, Jairo, T, Prior, C, Molano, J, Trujillo-Tiebas, M.J, Gallego-Merlo, J, García-Barcina, M, Fenollar, M, Navarro, C
Published in Neurología (Barcelona, Spain) (01.07.2017)
Published in Neurología (Barcelona, Spain) (01.07.2017)
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Journal Article
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
Vieitez, I, Gallano, P, González-Quereda, L, Borrego, S, Marcos, I, Millán, J M, Jairo, T, Prior, C, Molano, J, Trujillo-Tiebas, M J, Gallego-Merlo, J, García-Barcina, M, Fenollar, M, Navarro, C
Published in Neurologia (Barcelona, Spain) (01.07.2017)
Published in Neurologia (Barcelona, Spain) (01.07.2017)
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Journal Article
Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele
Meznaric, M., Gonzalez-Quereda, L., Gallardo, E., de Luna, N., Gallano, P., Fanin, M., Angelini, C., Peterlin, B., Zidar, J.
Published in European journal of neurology (01.07.2011)
Published in European journal of neurology (01.07.2011)
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Journal Article
Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases
Vieitez, I., Gallano, P., González-Quereda, L., Borrego, S., Marcos, I., Millán, J.M., Jairo, T., Prior, C., Molano, J., Trujillo-Tiebas, M.J., Gallego-Merlo, J., García-Barcina, M., Fenollar, M., Navarro, C.
Published in Neurología (Barcelona, English ed. ) (01.07.2017)
Published in Neurología (Barcelona, English ed. ) (01.07.2017)
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Journal Article
P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients
Paradas, C, Rivas, E, Jesús, S, Morales, J, González-Quereda, L, Gallano, P, Olivé, M, Márquez, C
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
P4.06 Somatic mosaicism in a Duchenne/Becker muscular dystrophy patient
Juan-Mateu, J, Paradas, C, Verdura, E, Rivas, E, Olivé, M, González-Quereda, L, Comanys, E, Rodríguez, M.J, Tizzano, E, Baiget, M, Gallano, P
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
G.P.13.09 Muscle biopsy mRNA-based analysis of point mutations in DMD gene in Spanish patients
Juan-Mateu, J, Rodrı´guez, M.J, González-Quereda, L, Colomer, J, Nascimento, A, Cabello, A, Rivas, E, Madruga, M, Paradas, C, Olivé, M, Gallano, P
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Journal Article
G.P.4.05 Childhood early onset of LGMD2B in siblings homozygous for the A927fsX21 mutation in the dysferlin gene
González-Quereda, L, Gómez, H, Cabello, A, De Luna, N, Gallardo, E, Rodriguez, M, Juan, J, Baiget, M, Gallano, P
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Journal Article
LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene
Gonzalez-Quereda, L, Gallano, P, Gallardo, E, Rodriguez, M, Lleixa, C, Straub, V, Topf, A, Diaz-Manera, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
451P Novel somatic genetic variants as predictors of resistance to EGFR-targeted therapies in metastatic colorectal cancer patients
Riera, P., Rodríguez-Santiago, B., Lasa, A., González-Quereda, L., Martín, B., Salazar, J., Garcia, A. Sebio, Manrique, A.C. Virgili, Surrallés, J., Páez, D.
Published in Annals of oncology (01.09.2020)
Published in Annals of oncology (01.09.2020)
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Journal Article
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
Gallano, P, Vieitez, I, Gonzalez-Quereda, L, Borrego, S, Marcos, I, Millan, J, Jaijo, T, Prior, C, Molano, J, Trujillo-Tiebas, M, Gallego-Merlo, J, Garcia-Barcina, M, Fenollar-Cortés, M, Navarro, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
Desminopathy in Chile, first cases reported
Bevilacqua, J, Gonzalez-Quereda, L, Castiglioni, C, Zamorano, I, Acevedo, L, Díaz, J, Rodríguez, M, Trangulao, A, Rivera, M, Gallano, P
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
478P RNA sequencing as a diagnostic tool in a cohort of 54 undiagnosed patients with neuromuscular diseases
Segarra-Casas, A., Domínguez-González, C., Natera-de-Benito, D., Ortez, C., Nascimiento, A., Hernández-Laín, A., Kapetanovic, S., Rodríguez, M., González-Mera, L., Nedkova, V., Fernández-Torrón, R., López-de Munain, A., Jimenez-Mallebrera, C., Rodríguez-Santiago, B., Gallardo, E., Olivé, M., Gallano, P., González-Quereda, L.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
495P Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Estévez-Arias, B., Segarra-Casas, A., Ortez, C., Matalonga, L., Carrera-García, L., Expósito-Escudero, J., Jou, C., Codina, A., Jiménez-Mallebrera, C., Martorell, L., Lochmüller, H., Töpf, A., Beltran, S., Hoenicka, J., Palau, F., Martí, I., Gallano, P., Nascimento, A., Natera-de Benito, D., González-Quereda, L.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
P.156 Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features
Olivé, M., Stevanovski, I., Quereda, L. González, Morris, G., Segarra-Casas, A., Rodriguez-Santiago, B., Gallano, P., Alvarez, R., Vesperinas, A., Millan, B. San, Navarro, C., Ravenscroft, G., Illa, I., Deveson, I., Gallardo, E.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
González-Quereda, L., Fuentealba, M., Díaz, J., Trangulao, A., Gallano, P., Bevilacqua, J.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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