Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease T Sevilla, V Lupo, D Martínez-Rubio, P Sancho, R Sivera, MJ Chumillas, ... Brain 139 (1), 62-72, 2016 | 99 | 2016 |
Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and hereditary motor neuropathy V Lupo, F García-García, P Sancho, C Tello, M García-Romero, ... The Journal of molecular diagnostics 18 (2), 225-234, 2016 | 47 | 2016 |
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain R Sivera, M Frasquet, V Lupo, T García-Sobrino, P Blanco-Arias, J Pardo, ... Scientific reports 7 (1), 6677, 2017 | 37 | 2017 |
COVID-19 in children with neuromuscular disorders D Natera-de Benito, S Aguilera-Albesa, L Costa-Comellas, ... Journal of neurology 268 (9), 3081-3085, 2021 | 36 | 2021 |
Infantile-onset Pompe disease with neonatal debut: A case report and literature review M Martínez, MG Romero, LG Guereta, M Cabrera, RM Regojo, L Albajara, ... Medicine 96 (51), e9186, 2017 | 23 | 2017 |
Distortion of the terminal portion of the QRS is predictor of shock after primary percutaneous coronary intervention for acute myocardial infarction JC Garcia-Rubira, R Garcia-Borbolla, I Nuñez-Gil, MC Manzano, ... International journal of cardiology 130 (2), 241-245, 2008 | 15 | 2008 |
Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study G Tapias, M García-Romero, C Crespo, M Cuesta, C Forné, ... Farmacia Hospitalaria 40 (5), 412-426, 2016 | 12 | 2016 |
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain R Sivera, V Lupo, M Frasquet, H Argente‐Escrig, J Alonso‐Pérez, ... European Journal of Neurology 28 (9), 3001-3011, 2021 | 10 | 2021 |
Posibilidades de tratamiento en la atrofia espinal infantil SI Pascual-Pascual, M García-Romero Rev. neurol.(Ed. impr.), s19-s24, 2017 | 9 | 2017 |
The role of respiratory viruses in children with ataxia-telangiectasia A Méndez-Echevarría, MB Caminoa, T Del Rosal, I Casas, F Pozo, ... Viruses 13 (5), 867, 2021 | 7 | 2021 |
Safety and efficacy of botulinum toxin in the treatment of self-biting behavior in Lesch-Nyhan disease M del Mar Garcia-Romero, RJ Torres, J Garcia-Puig, SI Pascual-Pascual Pediatric Neurology 127, 6-10, 2022 | 4 | 2022 |
Red ear syndrome in a pediatric patient CR Hernández, SM Loza, RL López, MMG Romero Pediatric Emergency Care 34 (10), e199-e200, 2018 | 4 | 2018 |
Hyperpotassaemia masquerading acute myocardial infarction JC Garcia-Rubira, M del Mar Garcia-Romero Heart 93 (10), 1284-1284, 2007 | 2 | 2007 |
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene C Gómez‐González, C Pizarro‐Sánchez, C Rodríguez‐Antolín, ... Annals of Human Genetics 86 (3), 109-118, 2022 | 1 | 2022 |
Treatment of self-biting behaviour in Lesch-Nyhan syndrome: Use of botulinum toxin MMG Romero, R Torres-Jimenez, G López-Sobrino, J Garcia-Puig, ... Toxicon 156, S98-S98, 2018 | 1 | 2018 |
Possible treatments for infantile spinal atrophy SI Pascual-Pascual, M Garcia-Romero Revista de Neurologia 64 (s03), S19-S24, 2017 | 1 | 2017 |
Análisis de minimización de costes del tratamiento de la espasticidad en niños con parálisis cerebral con toxina botulínica tipo A: un estudio observacional, longitudinal … G Tapias, M García-Romero, C Crespo, M Cuesta, C Forné, ... Farmacia Hospitalaria 40 (5), 412-426, 2016 | 1 | 2016 |
Diseccion de arterias vertebrales como causa de evento cerebrovascular agudo en niños L Fiz Pérez, R Velázquez Fragua, S García Guixot, M García Romero, ... Rev. neurol.(Ed. impr.), 382-383, 2016 | 1 | 2016 |
Effectiveness of botulinum toxin type a (boNT-A) in long-term treatment of hereditary spastic paraplegia in children: Review of a series of 63 cases M Garcia-Romero, M Martinez-Moreno, SI Pascual-Pascual Toxicon, S30-S31, 2016 | 1 | 2016 |
Cost-minimization analysis of treatment of spasticity with botulinum toxin type a G Tapias, C Crespo, M Cuesta, C Forne, M Garcia-Romero, ... Value in Health 16 (7), A624, 2013 | 1 | 2013 |