Del Toro M - Search Results

1

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: del toro m. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093

2

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Riudor E, Arranz JA, Anguera R, Salcedo S, Roig M, del Toro M, Bahima C, Martínez G, Ribes A, Vianey-Saban C, Sentís M. Riudor E, et al. Among authors: del toro m. J Inherit Metab Dis. 1998 Aug;21(6):673-4. doi: 10.1023/a:1005488718618. J Inherit Metab Dis. 1998. PMID: 9762604 No abstract available.

3

Painful ophthalmoplegia with reversible carotid stenosis in a child.

del Toro M, Macaya A, Vazquez E, Roig M. del Toro M, et al. Pediatr Neurol. 2001 Apr;24(4):317-9. doi: 10.1016/s0887-8994(01)00249-1. Pediatr Neurol. 2001. PMID: 11377111

4

Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.

Roig M, Gratacòs M, Vazquez E, Del Toro M, Foguet A, Ferrer I, Macaya A. Roig M, et al. Among authors: del toro m. Dev Med Child Neurol. 2003 Jul;45(7):489-93. doi: 10.1017/s0012162203000902. Dev Med Child Neurol. 2003. PMID: 12828404 Free article.

5

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.

Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu AL, Roig M. Vives-Bauza C, et al. Among authors: del toro m. J Inherit Metab Dis. 2003;26(5):507-8. doi: 10.1023/a:1025133629685. J Inherit Metab Dis. 2003. PMID: 14518831

6

Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.

Raspall M, Ortega-Aznar A, del Toro M, Roig M, Macaya A. Raspall M, et al. Among authors: del toro m. Pediatr Neurol. 2006 Feb;34(2):132-4. doi: 10.1016/j.pediatrneurol.2005.08.003. Pediatr Neurol. 2006. PMID: 16458826

7

Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.

del Toro M, Arranz JA, Macaya A, Riudor E, Raspall M, Moreno A, Vazquez E, Ortega A, Matsubara Y, Kure S, Roig M. del Toro M, et al. Ann Neurol. 2006 Jul;60(1):148-52. doi: 10.1002/ana.20887. Ann Neurol. 2006. PMID: 16802295

8

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.

Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, Macaya A, Cormand B. Cuenca-León E, et al. Among authors: del toro m. Cephalalgia. 2008 Oct;28(10):1039-47. doi: 10.1111/j.1468-2982.2008.01645.x. Epub 2008 Jul 17. Cephalalgia. 2008. PMID: 18644040

9

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B. Corominas R, et al. Among authors: del toro m. Neurosci Lett. 2009 May 15;455(2):105-9. doi: 10.1016/j.neulet.2009.03.011. Epub 2009 Mar 6. Neurosci Lett. 2009. PMID: 19368856

10

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R. Navarro-Sastre A, et al. Among authors: del toro m. Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005. Am J Hum Genet. 2011. PMID: 22077971 Free PMC article.

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