Publications by authors named "Maria Rabasa"

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Adult Pompe disease: Analysis of 13 patients.
Paloma Martín-Jiménez, Laura Bermejo-Guerrero, Ana Hernandez-Voth, Ana Arteche-López, Aurelio Hernández-Lain, María Rabasa

Med Clin (Barc)· May 2025

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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andrés Nascimento, Nuria Muelas, C Dominguez-González, Maria Rabasa

Neuromuscul Disord· January 2024

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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the Gene (GSD XI).
Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González

Genes (Basel)· October 2022

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Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Cristina Domínguez-González, Ana Hernández-Voth, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo Guerrero, Germán Morís, Maria Rabasa

Neuromuscul Disord· September 2022

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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gerardo Gutiérrez Gutiérrez, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, María Rabasa

Med Clin (Barc)· July 2019

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Richter transformation driven by Epstein-Barr virus reactivation during therapy-related immunosuppression in chronic lymphocytic leukaemia.
Maria J García-Barchino, Maria E Sarasquete, Carlos Panizo, Julie Morscio, Antonio Martinez, Maria P Rabasa

J Pathol· May 2018

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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Maria Rabasa

Orphanet J Rare Dis· October 2012

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