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Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Alonso-Jiménez A, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Llauger J, Díaz-Manera J. Alonso-Jiménez A, et al. Front Neurol. 2021 Jul 8;12:675781. doi: 10.3389/fneur.2021.675781. eCollection 2021. Front Neurol. 2021. PMID: 34305788 Free PMC article.
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, Montiel E, Suárez-Calvet X, Alonso-Pérez J, Segovia S, Nuñez-Peralta C, Llauger J, Mayos M, Illa I; Spanish Pompe Study Group; Díaz-Manera J. Fernández-Simón E, et al. Sci Rep. 2019 Feb 14;9(1):2139. doi: 10.1038/s41598-018-38025-0. Sci Rep. 2019. PMID: 30765719 Free PMC article.
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J. Fernández-Simón E, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):129-136. doi: 10.1016/j.ymgme.2019.07.013. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31378569 Clinical Trial.
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
Nuñez-Peralta C, Alonso-Pérez J, Llauger J, Segovia S, Montesinos P, Belmonte I, Pedrosa I, Montiel E, Alonso-Jiménez A, Sánchez-González J, Martínez-Noguera A, Illa I, Díaz-Manera J. Nuñez-Peralta C, et al. J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):1032-1046. doi: 10.1002/jcsm.12555. Epub 2020 Mar 4. J Cachexia Sarcopenia Muscle. 2020. PMID: 32129012 Free PMC article.
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Suárez-Calvet X, Alonso-Pérez J, Castellví I, Carrasco-Rozas A, Fernández-Simón E, Zamora C, Martínez-Martínez L, Alonso-Jiménez A, Rojas-García R, Turón J, Querol L, de Luna N, Milena-Millan A, Corominas H, Castillo D, Cortés-Vicente E, Illa I, Gallardo E, Díaz-Manera J. Suárez-Calvet X, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Mar 6;7(3):e694. doi: 10.1212/NXI.0000000000000694. Print 2020 May. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32144182 Free PMC article.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez C, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras D, Kalko SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya J, Ruiz-Pesini E, Villarroya J, Montero R, Villarroya F, Artuch R, Hirano M, Nascimento A, Jimenez-Mallebrera C. Dominguez-Gonzalez C, et al. Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8. Sci Rep. 2020. PMID: 32572108 Free PMC article.
70 results