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Page 1
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern.
Llansó L, Moore U, Bolano-Diaz C, James M, Blamire AM, Carlier PG, Rufibach L, Gordish-Dressman H, Boyle G, Hilsden H, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell JR, Straub V, Díaz-Manera J. Llansó L, et al. Neuromuscul Disord. 2023 Apr;33(4):349-357. doi: 10.1016/j.nmd.2023.02.007. Epub 2023 Mar 2. Neuromuscul Disord. 2023. PMID: 36972667 Free article. Review.
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.
Esteller D, Morrow J, Alonso-Pérez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bolaño-Díaz C, Turon-Sans J, Töpf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-García R, Díaz-Manera J. Esteller D, et al. Neuromuscul Disord. 2023 Oct;33(10):744-753. doi: 10.1016/j.nmd.2023.08.010. Epub 2023 Aug 28. Neuromuscul Disord. 2023. PMID: 37704504 Free article.
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A, Díaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Morís G, Muelas N, Vílchez JJ, García-Medina A, Usón M, Martínez García FA, Illa I, Pichiecchio A. Alejaldre A, et al. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011. Neuromuscul Disord. 2012. PMID: 22980766
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suárez-Cuartín G, Gallardo E, Illa I, Díaz-Manera J; Spanish Pompe Study Group. Figueroa-Bonaparte S, et al. PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016. PLoS One. 2016. PMID: 27711114 Free PMC article.
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Figueroa-Bonaparte S, Llauger J, Segovia S, Belmonte I, Pedrosa I, Montiel E, Montesinos P, Sánchez-González J, Alonso-Jiménez A, Gallardo E, Illa I; Spanish Pompe group; Díaz-Manera J. Figueroa-Bonaparte S, et al. Sci Rep. 2018 Jul 18;8(1):10898. doi: 10.1038/s41598-018-29170-7. Sci Rep. 2018. PMID: 30022036 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.
211 results