| 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 | 146 | 2015 |
| 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 | 94 | 2007 |
| 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 | 91 | 2009 |
| 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 | 70 | 2020 |
| 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 | 65 | 2008 |
| 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 | 60 | 2012 |
| 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 | 58 | 2011 |
| 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 | 56 | 2017 |
| 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 | 53 | 2016 |
| 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 | 50 | 2020 |
| 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 | 49 | 2013 |
| 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 | 44 | 2019 |
| 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 | 44 | 2017 |
| 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 | 37 | 2020 |
| 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 | 24 | 2020 |
| 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 | 23 | 2009 |
| 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 | 20 | 2018 |
| 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 | 18 | 2020 |
| Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele M Meznaric, L Gonzalez‐Quereda, E Gallardo, N De Luna, P Gallano, ... European Journal of Neurology 18 (7), 1021-1023, 2011 | 17 | 2011 |
| 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 | 16 | 2021 |
Pau Riera ArmengolDoctor en Biomedicina. Board Certified Oncology Pharmacist. Farmacèutic i químic. Hospital Sant PauDirección de correo verificada de santpau.cat
