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85 results

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Page 1
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Among authors: del val j. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Nishiguchi KM, et al. Among authors: del val j. Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Ophthalmology. 2014. PMID: 24697911
'Spontaneous thalamotomy'.
del Val J, García-Ruiz PJ, Herranz A. del Val J, et al. Pract Neurol. 2013 Jun;13(3):196. doi: 10.1136/practneurol-2012-000335. Epub 2013 Mar 13. Pract Neurol. 2013. PMID: 23487820 No abstract available.
Very long-standing Parkinson's disease.
Garcia-Ruiz PJ, del Val J, Herranz A. Garcia-Ruiz PJ, et al. Among authors: del val j. Eur Neurol. 2013;70(3-4):172-4. doi: 10.1159/000351774. Epub 2013 Aug 27. Eur Neurol. 2013. PMID: 23988401 Free article. No abstract available.
Generalized dystonia without Parkinsonism in an LRRK2 carrier.
Díaz-Feliz L, Feliz-Feliz C, Del Val J, Ávila-Fernández A, Lorda-Sanchez I, García-Ruiz PJ. Díaz-Feliz L, et al. Among authors: del val j. Clin Park Relat Disord. 2022 Jul 21;7:100157. doi: 10.1016/j.prdoa.2022.100157. eCollection 2022. Clin Park Relat Disord. 2022. PMID: 35941989 Free PMC article. No abstract available.
Reaction time and rhythm of movement in Huntington's disease.
Martínez Pueyo A, García-Ruiz PJ, Feliz CE, Garcia Caldentey J, Del Val J, Herranz A. Martínez Pueyo A, et al. Among authors: del val j. J Neurol Sci. 2016 Mar 15;362:115-7. doi: 10.1016/j.jns.2015.12.037. Epub 2015 Dec 29. J Neurol Sci. 2016. PMID: 26944129
Late onset Huntington's disease with 29 CAG repeat expansion.
Garcia-Ruiz PJ, Garcia-Caldentey J, Feliz C, del Val J, Herranz A, Martínez-Castrillo JC. Garcia-Ruiz PJ, et al. Among authors: del val j. J Neurol Sci. 2016 Apr 15;363:114-5. doi: 10.1016/j.jns.2016.02.030. Epub 2016 Feb 16. J Neurol Sci. 2016. PMID: 27000233 No abstract available.
Sweeping as trick for chronic motor tics.
Garcia-Ruiz PJ, del Val J. Garcia-Ruiz PJ, et al. Among authors: del val j. Parkinsonism Relat Disord. 2012 Jun;18(5):682. doi: 10.1016/j.parkreldis.2011.11.017. Epub 2011 Dec 11. Parkinsonism Relat Disord. 2012. PMID: 22154811 No abstract available.
85 results