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Page 1
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Among authors: rabasa m. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Serrano-Lorenzo P, Rabasa M, Esteban J, Hidalgo Mayoral I, Domínguez-González C, Blanco-Echevarría A, Garrido-Moraga R, Lucia A, Blázquez A, Rubio JC, Palma-Milla C, Arenas J, Martín MA. Serrano-Lorenzo P, et al. Among authors: rabasa m. Genes (Basel). 2022 Oct 11;13(10):1835. doi: 10.3390/genes13101835. Genes (Basel). 2022. PMID: 36292720 Free PMC article.
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, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: rabasa m. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P, Bermejo-Guerrero L, Hernandez-Voth A, Arteche-López A, Hernández-Lain A, Rabasa M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: rabasa m. Med Clin (Barc). 2024 Aug 17:S0025-7753(24)00399-3. doi: 10.1016/j.medcli.2024.05.022. Online ahead of print. Med Clin (Barc). 2024. PMID: 39155212 English, Spanish.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: rabasa m. Neurologia (Engl Ed). 2020 Apr;35(3):185-206. doi: 10.1016/j.nrl.2019.01.001. Epub 2019 Apr 16. Neurologia (Engl Ed). 2020. PMID: 31003788 Free article. English, Spanish.
Plasma levels of nitrates in patients with Parkinson's disease.
Molina JA, Jiménez-Jiménez FJ, Navarro JA, Ruiz E, Arenas J, Cabrera-Valdivia F, Vázquez A, Fernández-Calle P, Ayuso-Peralta L, Rabasa M, et al. Molina JA, et al. Among authors: rabasa m. J Neurol Sci. 1994 Dec 1;127(1):87-89. doi: 10.1016/0022-510x(94)90139-2. J Neurol Sci. 1994. PMID: 7699396
Peripheral iron metabolism in patients with Parkinson's disease.
Cabrera-Valdivia F, Jiménez-Jiménez FJ, Molina JA, Férnandez-Calle P, Vázquez A, Cañizares-Liébana F, Larumbe-Lobalde S, Ayuso-Peralta L, Rabasa M, Codoceo R. Cabrera-Valdivia F, et al. Among authors: rabasa m. J Neurol Sci. 1994 Aug;125(1):82-6. doi: 10.1016/0022-510x(94)90246-1. J Neurol Sci. 1994. PMID: 7964893
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: rabasa m. Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. Med Clin (Barc). 2019. PMID: 30685181 English, Spanish.
21 results