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Garcia Romero, Maria Del Mar mariamar.garciar@uam.es

Pediatría / Universidad Autónoma de Madrid

Publications

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

  • Carrera-García L
  • Expósito-Escudero J
  • Ñungo Garzón NC
  • Pareja A
  • Fernández-García MA
  • Ortez C
  • Medina J
  • Martínez-Salcedo E
  • Urbano M
  • Grimalt MA
  • Munell F
  • García-Campos Ó
  • Roca S
  • Moya O
  • Estévez-Arias B
  • Balsells S
  • Frongia AL
  • Borràs A
  • Puig-Ram C
  • García Romero M
  • Calvo R
  • López-Lobato M
  • Pitarch-Castellano I
  • Natera-de Benito D
  • Nascimento A
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Journal Of Neurology - 1/5/2025

10.1007/s00415-025-13042-y View at source

  • ISSN 03405354

Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project

  • Puig-Ram C
  • Segovia S
  • Garcia-Uzquiano R
  • Ñungo Garzón NC
  • Aragon-Gawinska K
  • García Romero M
  • Expósito-Escudero JM
  • Carrera-García L
  • López-Lobato M
  • Paradas C
  • González Mera L
  • Álvarez Molinero M
  • Gómez Andrés D
  • Toro E
  • Fernández Ramos JA
  • Grimalt MA
  • Toledo Bravo de Laguna L
  • González Barrios D
  • Tizzano EF
  • Cattinari MG
  • Medina J
  • Calvo Medina R
  • Munell F
  • Sotoca J
  • Martínez-Salcedo E
  • Moreno Escribano A
  • Povedano Panadés M
  • Fernández-García MA
  • Pitarch-Castellano I
  • Vázquez-Costa JF
  • Natera-de Benito D
  • Nascimento A
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J Neuromuscul Dis (p. 837-848) - 1/11/2025

10.1177/22143602251361190 View at source

  • ISSN 22143599

Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir

  • Mansilla Fernández B
  • Paz Solís JF
  • García Romero MdM
  • Fernandez García MA
  • Román de Aragón M
  • Carceller Benito F
  • Pascual Pascual SI
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European Journal Of Paediatric Neurology (p. 107-112) - 1/1/2025

10.1016/j.ejpn.2025.01.005 View at source

  • ISSN 10903798

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

  • Martinez-Marin, RJ
  • Reyes-Leiva, D
  • Nascimento, A
  • Muelas, N
  • Dominguez-González, C
  • Paradas, C
  • Olivé, M
  • García-Romero, M
  • Pascual-Pascual, SI
  • Grau, JM
  • Barba-Romero, MA
  • Gomez-Caravaca, MT
  • de las Heras, J
  • Casquero, P
  • Mendoza, MD
  • de León, JC
  • Gutierrez, A
  • Morís, G
  • Blanco-Lago, R
  • Ramos-Fransi, A
  • Pintós, G
  • García-Antelo, MJ
  • Rabasa, M
  • Morgado, Y
  • Usón, M
  • Miralles, FJ
  • Bárcena-Llona, JE
  • Gómez-Belda, AB
  • Pedraza-Hueso, MI
  • Hortelano, M
  • Colomé, A
  • Garcia-Martin, G
  • de Munain, AL
  • Jericó, I
  • Galán-Dávila, L
  • Pardo, J
  • Salgueiro-Origlia, G
  • Alonso-Pérez, J
  • Pla-Junca, F
  • Schiava, M
  • Segovia-Simón, S
  • Díaz-Manera, J
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Neuromuscular Disorders (p. 1-8) - 1/1/2024

10.1016/j.nmd.2023.10.001 View at source

  • ISSN 09608966

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene

  • Gómez-González C
  • Pizarro-Sánchez C
  • Rodríguez-Antolín C
  • Pascual-Pascual I
  • Garcia-Romero M
  • Rodriguez-Jiménez C
  • de Sancho-Martín R
  • del Pozo-Mate Á
  • Solís-López M
  • Prior-de Castro C
  • Torres RJ
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Annals Of Human Genetics (p. 109-118) - 1/5/2022

10.1111/ahg.12455 View at source

  • ISSN 00034800

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease

  • Garcia-Romero, MD
  • Torres, RJ
  • Garcia-Puig, J
  • Pascual-Pascual, SI

Pediatric Neurology (p. 6-10) - 1/2/2022

10.1016/j.pediatrneurol.2021.10.018 View at source

  • ISSN 08878994

The Role of Respiratory Viruses in Children with Ataxia-Telangiectasia

  • Méndez-Echevarría A, Caminoa MB, Del Rosal T, Casas I, Pozo F, Pascual-Pascual SI, García-Romero M, Cámara C, Calvo C

Viruses-Basel - 1/5/2021

10.3390/v13050867 View at source

  • ISSN 19994915

COVID-19 in children with neuromuscular disorders

  • Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A, Neuromuscular Working Group of Spanish Pediatric Neurology Society

Journal Of Neurology (p. 3081-3085) - 1/1/2021

10.1007/s00415-020-10339-y View at source

  • ISSN 03405354

Possible treatments for infantile spinal atrophy

  • Pascual-Pascual, SI
  • García-Romero, M

Revista De Neurologia (p. S19-S24) - 17/5/2017

  • ISSN 02100010
  • iMarina

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

  • Ortega-Moreno, L
  • Giráldez, BG
  • Soto-Insuga, V
  • Losada-Del Pozo, R
  • Rodrigo-Moreno, M
  • Alarcón-Morcillo, C
  • Sánchez-Martín, G
  • Díaz-Gómez, E
  • Guerrero-López, R
  • Serratosa, JAM
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PLoS ONE (p. 467-e0188978) - 1/11/2017

Editor: Public Library of Science

10.1371/journal.pone.0188978 View at source

  • ISSN 19326203
  • ISSN/ISBN 1932-6203

This researcher has no books.

Síndromes miasténicos congénitos

  • Samuel Ignacio Pascual Pascual
  • Mar García Romero

Manual De Enfermedades Neuromusculares (p. 359 - 366) - 1/1/2017

  • iMarina

This researcher has no conferences.

This researcher has no working papers.

This researcher has no technical reports.

This researcher has no research projects.

Estudio de una cohorte de pacientes con enfermedad de Lesch Nyhan: Valoración clínica y manejo terapéutico de las complicaciones neurológicas

  • Samuel Ignacio Pascual Pascual (Director) Doctorando: Mar García Romero

1/1/2023

  • iMarina

This researcher has no patents or software licenses.

Last data update: 2/15/26 6:09 AM