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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. J Neuromuscul Dis. 2015;2(s1):S42. J Neuromuscul Dis. 2015. PMID: 27858636 No abstract available.
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A. Natera-de Benito D, et al. Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18. Neuromuscul Disord. 2017. PMID: 29054425
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.
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.
Voermans NC, Vriens-Munoz Bravo M, Padberg GW, Laforêt P; FSHD European Trial Network workshop study group; van Alfen N, Attarian S, Badrising UA, Bugiardini P, Camano González P, Carlier RY, Desguerre I, Diaz-Manera J, Dumonceaux J, van Engelen BG, Evangelista T, Khosla S, Lópezde Munain A, van der Maarel SM, Mejat A, Monforte M, Montagnese F, Mul K, Oflazer P, Porter B, Quijano Roy S, Ricci E, Sacconi S, Sansone VA, Schoser B, Statland J, Stumpe E, Tasca G, Tawil R, Turner C, Vissing J. Voermans NC, et al. Neuromuscul Disord. 2021 Sep;31(9):907-918. doi: 10.1016/j.nmd.2021.07.013. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34404575 No abstract available.
Long-lasting treatment effect of rituximab in MuSK myasthenia.
Díaz-Manera J, Martínez-Hernández E, Querol L, Klooster R, Rojas-García R, Suárez-Calvet X, Muñoz-Blanco JL, Mazia C, Straasheijm KR, Gallardo E, Juárez C, Verschuuren JJ, Illa I. Díaz-Manera J, et al. Neurology. 2012 Jan 17;78(3):189-93. doi: 10.1212/WNL.0b013e3182407982. Epub 2012 Jan 4. Neurology. 2012. PMID: 22218276 Clinical Trial.
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. 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.
224 results