Lopez-Laso E - Search Results

1

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. Fernandez-Moreira D, et al. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

2

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R. Bellusci M, et al. Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590. Genes (Basel). 2021. PMID: 34680984 Free PMC article.

3

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

4

Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.

Rovira À, Ruiz-Falcó ML, García-Esparza E, López-Laso E, Macaya A, Málaga I, Vázquez É, Vicente J. Rovira À, et al. J Neurooncol. 2014 Jun;118(2):205-223. doi: 10.1007/s11060-014-1429-y. Epub 2014 Apr 27. J Neurooncol. 2014. PMID: 24771286

5

[Infection-triggered familial or recurrent acute necrotizing encephalopathy].

López-Laso E, Mateos-González ME, Pérez-Navero JL, Camino-León R, Briones P, Neilson DE. López-Laso E, et al. An Pediatr (Barc). 2009 Sep;71(3):235-9. doi: 10.1016/j.anpedi.2009.05.020. Epub 2009 Jul 29. An Pediatr (Barc). 2009. PMID: 19643689 Free article. Spanish.

6

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. Berciano J, et al. J Neurol. 2011 Aug;258(8):1413-21. doi: 10.1007/s00415-011-5947-7. Epub 2011 Feb 19. J Neurol. 2011. PMID: 21336783

7

Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).

López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K. López-Laso E, et al. J Neurol. 2009 Nov;256(11):1816-24. doi: 10.1007/s00415-009-5198-z. Epub 2009 Jun 16. J Neurol. 2009. PMID: 19533203

8

Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.

López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K, Artuch R. López-Laso E, et al. J Neurol. 2011 Dec;258(12):2155-62. doi: 10.1007/s00415-011-6079-9. Epub 2011 May 10. J Neurol. 2011. PMID: 21556877

9

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sánchez L, Baide-Mairena H, Pérez-Dueñas B, Gil-Campos M. Pata S, et al. Among authors: lopez laso e. Orphanet J Rare Dis. 2022 Sep 5;17(1):340. doi: 10.1186/s13023-022-02468-6. Orphanet J Rare Dis. 2022. PMID: 36064416 Free PMC article.

10

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.

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