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Lidia Gonzalez Quereda
Lidia Gonzalez Quereda
Genetics Department, Hospital de Sant Pau
Dirección de correo verificada de santpau.cat
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DMD mutations in 576 dystrophinopathy families: a step forward in genotype-phenotype correlations
J Juan-Mateu, L Gonzalez-Quereda, MJ Rodriguez, M Baena, E Verdura, ...
PloS one 10 (8), e0135189, 2015
1572015
A new phenotype of dysferlinopathy with congenital onset
C Paradas, L González-Quereda, N De Luna, E Gallardo, ...
Neuromuscular Disorders 19 (1), 21-25, 2009
942009
Dysferlin expression in monocytes: a source of mRNA for mutation analysis
N De Luna, A Freixas, P Gallano, L Caselles, R Rojas-Garcia, C Paradas, ...
Neuromuscular Disorders 17 (1), 69-76, 2007
942007
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
M Olivé, A Shatunov, L Gonzalez, O Carmona, D Moreno, LG Quereda, ...
Neuromuscular Disorders 18 (12), 929-933, 2008
682008
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
J Juan-Mateu, MJ Rodríguez, A Nascimento, C Jiménez-Mallebrera, ...
Orphanet journal of rare diseases 7, 1-13, 2012
662012
Molecular characterization of congenital myasthenic syndromes in Spain
D Natera-de Benito, A Töpf, JJ Vilchez, L González-Quereda, ...
Neuromuscular Disorders 27 (12), 1087-1098, 2017
642017
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ...
Genetics in medicine 22 (9), 1478-1488, 2020
602020
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy
E Gallardo, N de Luna, J Diaz-Manera, R Rojas-García, ...
PLoS One 6 (12), e29061, 2011
592011
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
J Alonso-Perez, L González-Quereda, L Bello, M Guglieri, V Straub, ...
Brain 143 (9), 2696-2708, 2020
572020
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
J Díaz-Manera, A Alejaldre, L González, M Olivé, D Gómez-Andrés, ...
Neuromuscular Disorders 26 (1), 33-40, 2016
542016
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes
J Juan-Mateu, L González-Quereda, MJ Rodríguez, E Verdura, K Lázaro, ...
PloS one 8 (3), e59916, 2013
502013
Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain
L Gonzalez-Quereda, MJ Rodriguez, J Diaz-Manera, J Alonso-Perez, ...
Genes 11 (5), 539, 2020
462020
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
A Alonso-Jimenez, RH Kroon, A Alejaldre-Monforte, C Nuñez-Peralta, ...
Journal of Neurology, Neurosurgery & Psychiatry 90 (5), 576-585, 2019
442019
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
I Vieitez, P Gallano, L González-Quereda, S Borrego, I Marcos, JM Millán, ...
Neurología (English Edition) 32 (6), 377-385, 2017
442017
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
M Bogliolo, R Pujol, M Aza-Carmona, N Muñoz-Subirana, ...
Journal of medical genetics 57 (4), 258-268, 2020
292020
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement
L Gonzalez-Quereda, E Gallardo, A Töpf, A Alonso-Jimenez, V Straub, ...
Neuromuscular Disorders 28 (8), 633-638, 2018
252018
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization
D Natera‐de Benito, J Muchart, D Itzep, C Ortez, L González‐Quereda, ...
Epilepsia 61 (5), 971-983, 2020
242020
Phenotypic variability in a Spanish family with a Caveolin-3 mutation
P González-Pérez, P Gallano, L González-Quereda, E Rivas-Infante, ...
Journal of the neurological sciences 276 (1-2), 95-98, 2009
242009
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A Topf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ...
Genetics in Medicine, 2020
222020
The phenotype and genotype of congenital myopathies based on a large pediatric cohort
D Natera-de Benito, C Ortez, C Jou, C Jimenez-Mallebrera, A Codina, ...
Pediatric Neurology 115, 50-65, 2021
192021
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