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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11.
Genet Med. 2020.
PMID: 32528171
Free PMC article.
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Alonso-Pérez J, Casasús A, Gimenez-Muñoz Á, Duff J, Rojas-Garcia R, Illa I, Straub V, Töpf A, Díaz-Manera J.
Alonso-Pérez J, et al.
Neuromuscul Disord. 2021 Aug;31(8):769-772. doi: 10.1016/j.nmd.2021.04.011. Epub 2021 May 27.
Neuromuscul Disord. 2021.
PMID: 34210542
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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ.
Poyatos-García J, et al.
Ann Neurol. 2022 Nov;92(5):793-806. doi: 10.1002/ana.26461. Epub 2022 Sep 7.
Ann Neurol. 2022.
PMID: 35897138
Free PMC article.
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