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2022 | 3 |
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Page 1
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
J Neurol. 2022 Jul;269(7):3550-3562. doi: 10.1007/s00415-021-10957-0. Epub 2022 Mar 14.
J Neurol. 2022.
PMID: 35286480
Free PMC article.
Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.
Alonso-Pérez J, de León Hernández JC, Pérez-Pérez H, Mendoza-Grimón MD, Gutierrez-Martinez AJ, Hadjigeorgiou I, Montón-Álvarez F, González-Quereda L, Alonso-Jimenez A, Suárez-Calvet X, Díaz-Manera J.
Alonso-Pérez J, et al. Among authors: de leon hernandez jc.
Eur J Neurol. 2022 May;29(5):1488-1495. doi: 10.1111/ene.15252. Epub 2022 Feb 3.
Eur J Neurol. 2022.
PMID: 35112761
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J, González-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, De Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuß A, Løkken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andrés D, Munell F, Costa-Comellas L, Haberlová J, Rohlenová M, Elke V, De Bleecker JL, Dominguez-González C, Tasca G, Weiss C, Deconinck N, Fernández-Torrón R, López de Munain A, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernández JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Díaz-Manera J.
Alonso-Pérez J, et al. Among authors: de leon hernandez jc.
Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228.
Brain. 2020.
PMID: 32875335
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Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C, Hernández-Voth A, de Fuenmayor-Fernández de la Hoz CP, Guerrero LB, Morís G, García-García J, Muelas N, León Hernández JC, Rabasa M, Lora D, Blázquez A, Arenas J, Martin MÁ.
Domínguez-González C, et al. Among authors: leon hernandez jc.
Neuromuscul Disord. 2022 Sep;32(9):728-735. doi: 10.1016/j.nmd.2022.07.399. Epub 2022 Jul 16.
Neuromuscul Disord. 2022.
PMID: 35907766
Free article.
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