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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Sivera Mascaró R, García Sobrino T, Horga Hernández A, Pelayo Negro AL, Alonso Jiménez A, Antelo Pose A, Calabria Gallego MD, Casasnovas C, Cemillán Fernández CA, Esteban Pérez J, Fenollar Cortés M, Frasquet Carrera M, Gallano Petit MP, Giménez Muñoz A, Gutiérrez Gutiérrez G, Gutiérrez Martínez A, Juntas Morales R, Ciano-Petersen NL, Martínez Ulloa PL, Mederer Hengstl S, Millet Sancho E, Navacerrada Barrero FJ, Navarrete Faubel FE, Pardo Fernández J, Pascual Pascual SI, Pérez Lucas J, Pino Mínguez J, Rabasa Pérez M, Sánchez González M, Sotoca J, Rodríguez Santiago B, Rojas García R, Turon-Sans J, Vicent Carsí V, Sevilla Mantecón T. Sivera Mascaró R, et al. Among authors: rabasa perez m. Neurologia (Engl Ed). 2024 Mar 1:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008. Online ahead of print. Neurologia (Engl Ed). 2024. PMID: 38431252 Free article.
Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.
Cerrada V, García-López M, Alvarez-Galeano S, Moreno-Izquierdo A, Lucia A, Rabasa Pérez M, Arenas J, Gallardo ME. Cerrada V, et al. Among authors: rabasa perez m. Stem Cell Res. 2020 Dec;49:102108. doi: 10.1016/j.scr.2020.102108. Epub 2020 Dec 3. Stem Cell Res. 2020. PMID: 33370875 Free article.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.