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Items: 1 to 20 of 204

1.

[Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy].

Fuentes-Pita P, Gomez-Lado C, Dacruz D, Eiris-Punal J, Prieto-Gonzalez A, Castro-Gago M.

Rev Neurol. 2016 Jul 1;63(1):11-8. Spanish.

2.

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.

Brain Dev. 2016 Sep;38(8):783. doi: 10.1016/j.braindev.2016.04.009. No abstract available.

PMID:
27138744
3.

Articular manifestations in patients with Lyme disease.

Vázquez-López ME, Díez-Morrondo C, Sánchez-Andrade A, Pego-Reigosa R, Díaz P, Castro-Gago M.

Reumatol Clin. 2016 Nov - Dec;12(6):327-330. doi: 10.1016/j.reuma.2015.10.013. English, Spanish.

4.

[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].

Quintela I, Barros-Angueira F, Perez-Gay L, Dacruz D, Castro-Gago M, Carracedo A, Eiris-Punal J.

Rev Neurol. 2015 Sep 16;61(6):255-60. Spanish.

5.

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

Quintela I, Barros F, Fernandez-Prieto M, Martinez-Regueiro R, Castro-Gago M, Carracedo A, Gomez-Lado C, Eiris J.

Am J Med Genet A. 2015 Dec;167A(12):3113-20. doi: 10.1002/ajmg.a.37291.

PMID:
26284580
6.

[Lyme disease in paediatrics].

Vázquez-López ME, Pérez-Pacín R, Díez-Morrondo C, Díaz P, Castro-Gago M.

An Pediatr (Barc). 2016 Apr;84(4):234-5. doi: 10.1016/j.anpedi.2015.07.008. Spanish. No abstract available.

7.

[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Quintela I, Barros-Angueira F, Pérez-Gay L, Castro-Gago M, Carracedo Á, Eirís-Puñal J.

Rev Neurol. 2015 Jul 16;61(2):94-6. Spanish. No abstract available.

PMID:
26156445
8.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.

Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008.

PMID:
26006750
9.

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.

Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J.

Am J Med Genet A. 2015 Jun;167(6):1369-73. doi: 10.1002/ajmg.a.37038.

PMID:
25898976
10.

A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.

Quintela I, Barros F, Lago-Leston R, Castro-Gago M, Carracedo A, Eiris J.

Am J Med Genet A. 2015 Jun;167(6):1315-22. doi: 10.1002/ajmg.a.36909.

PMID:
25847113
11.

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin.

Castro-Gago M.

Neuromuscul Disord. 2015 May;25(5):443. doi: 10.1016/j.nmd.2015.02.009. No abstract available.

PMID:
25777491
12.

[Epidemiology of Lyme disease in a healthcare area in north-west Spain].

Vázquez-López ME, Pego-Reigosa R, Díez-Morrondo C, Castro-Gago M, Díaz P, Fernández G, Morrondo P.

Gac Sanit. 2015 May-Jun;29(3):213-6. doi: 10.1016/j.gaceta.2015.01.008. Spanish.

13.

[Dravet syndrome and mitochondrial disease, are they comorbid pathologies?].

Castro-Gago M, Eirís-Puñal J.

Rev Neurol. 2015 Feb 1;60(3):144. Spanish. No abstract available.

14.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887.

15.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J, Martín MÁ, Martínez-Azorín F.

Eur J Paediatr Neurol. 2014 Nov;18(6):796-800. doi: 10.1016/j.ejpn.2014.06.005.

PMID:
24997086
16.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA.

Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59.

17.

[Juvenile Alpers disease].

Pérez-Gay L, Gómez-Lado C, Eirís-Puñal J, Dacruz D, Rodríguez-Núñez A, Bornstein B, Castro-Gago M.

Rev Neurol. 2013 Dec 16;57(12):574-6. Spanish. No abstract available.

PMID:
24288107
18.

[Microdeletion 2q23.1 and syndromic findings].

Pérez-Gay L, Gómez-Lado C, Eirís-Puñal J, Dacruz D, Quintela I, Barros-Angueira F, Castro-Gago M.

Rev Neurol. 2013 Nov 1;57(9):430-1. Spanish. No abstract available.

19.

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.

Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A.

Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003.

PMID:
23395213
20.

[16p11.2 microdeletion associated to early onset benign childhood seizures].

Castro-Gago M, Pérez-Gay L, Gómez-Lado C, Dacruz D, Barros-Angueira F.

Rev Neurol. 2013 Jan 16;56(2):125-7. Spanish. No abstract available.

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