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A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C. Servián-Morilla E, et al. Among authors: paradas c. EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815. Print 2016 Nov. EMBO Mol Med. 2016. PMID: 27807076 Free PMC article.
[Spinal cord lymphoma].
Paradas C, Márquez C, López JC. Paradas C, et al. Neurologia. 1999 Oct;14(8):407. Neurologia. 1999. PMID: 10609464 Spanish. No abstract available.
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez JJ, Márquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E. De Luna N, et al. Among authors: paradas c. Neuromuscul Disord. 2007 Jan;17(1):69-76. doi: 10.1016/j.nmd.2006.09.006. Epub 2006 Oct 27. Neuromuscul Disord. 2007. PMID: 17070050
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E. Illa I, et al. Among authors: paradas c. Neurology. 2007 Apr 17;68(16):1284-9. doi: 10.1212/01.wnl.0000256768.79353.60. Epub 2007 Feb 7. Neurology. 2007. PMID: 17287450
A new phenotype of dysferlinopathy with congenital onset.
Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P. Paradas C, et al. Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084402
82 results