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Page 1
Clinical guidelines for late-onset Pompe disease.
Barba-Romero MA, Barrot E, Bautista-Lorite J, Gutierrez-Rivas E, Illa I, Jimenez LM, Ley-Martos M, Lopez de Munain A, Pardo J, Pascual-Pascual SI, Perez-Lopez J, Solera J, Vilchez-Padilla JJ. Barba-Romero MA, et al. Rev Neurol. 2012 Apr 16;54(8):497-507. Rev Neurol. 2012. PMID: 22492103 Free article. Review. English, Spanish.
[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)].
Gutiérrez-Rivas E, Illa I, Pascual-Pascual SI, Pérez-López J, Vílchez-Padilla JJ, Bautista-Lorite J, Barrot E, López de Munain A; Sociedad Española de Medicina Interna; Sociedad Española de Neurología; Sociedad Española de Neumología y CirugíaTorácica. Gutiérrez-Rivas E, et al. Rev Neurol. 2015 Apr 1;60(7):321-8. Rev Neurol. 2015. PMID: 25806482 Free article. Spanish.
[Clinical guidelines for infantile-onset Pompe disease].
Pascual-Pascual SI, Nascimento A, Fernandez-Llamazares CM, Medrano-Lopez C, Villalobos-Pinto E, Martinez-Moreno M, Ley M, Manrique-Rodriguez S, Blasco-Alonso J. Pascual-Pascual SI, et al. Rev Neurol. 2016 Sep 16;63(6):269-79. Rev Neurol. 2016. PMID: 27600742 Free article. 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. 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.
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group. Sánchez-Ferrero E, et al. Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21. Clin Genet. 2013. PMID: 22571692
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. van der Ploeg AT, et al. Eur J Neurol. 2017 Jun;24(6):768-e31. doi: 10.1111/ene.13285. Epub 2017 May 6. Eur J Neurol. 2017. PMID: 28477382 Review.
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. 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.
[Guidelines for the treatment of child spasticity using botulinum toxin].
Pascual-Pascual SI, Herrera-Galante A, Póo P, García-Aymerich V, Aguilar-Barberà M, Bori-Fortuny I, García-Ruiz PJ, Garreta-Figuera R, Lanzas-Melendo G, de Miguel-León I, Miquel-Rodríguez F, Vivancos-Matellano F; Grupo Español de Espasticidad. Pascual-Pascual SI, et al. Rev Neurol. 2007 Mar 1-15;44(5):303-9. Rev Neurol. 2007. PMID: 17342682 Free article. Spanish.
181 results