López-Sala A - Search Results

1

Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.

Migliorelli C, Medina-Rivera I, Bachiller A, Tost A, Alonso JF, López-Sala A, Armstrong J, O'Callahan MDM, Pineda M, Mañanas MA, Romero S, García-Cazorla Á. Migliorelli C, et al. Among authors: lopez sala a. J Intellect Disabil Res. 2022 Mar;66(3):213-224. doi: 10.1111/jir.12902. Epub 2021 Nov 18. J Intellect Disabil Res. 2022. PMID: 34796573

2

Arginine supplementation in four patients with X-linked creatine transporter defect.

Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J. Fons C, et al. J Inherit Metab Dis. 2008 Dec;31(6):724-8. doi: 10.1007/s10545-008-0902-1. Epub 2008 Oct 16. J Inherit Metab Dis. 2008. PMID: 18925426

3

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency.

Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A. Fons C, et al. Mol Genet Metab. 2010 Mar;99(3):296-9. doi: 10.1016/j.ymgme.2009.10.186. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 19955008 Clinical Trial.

4

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency.

Matos IV, Castejón E, Meavilla S, O'Callaghan M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch R, Garcia-Cazorla A. Matos IV, et al. Mol Genet Metab. 2013 Aug;109(4):360-5. doi: 10.1016/j.ymgme.2013.05.007. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23746552

5

Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.

Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: lopez sala a. Biol Psychiatry. 2018 Jan 15;83(2):160-172. doi: 10.1016/j.biopsych.2017.05.028. Epub 2017 Jun 16. Biol Psychiatry. 2018. PMID: 28734458 Retracted.

6

L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy.

Soto D, Olivella M, Grau C, Armstrong J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, Gómez de Salazar M, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, García-Cazorla À, Altafaj X. Soto D, et al. Among authors: lopez sala a. Sci Signal. 2019 Jun 18;12(586):eaaw0936. doi: 10.1126/scisignal.aaw0936. Sci Signal. 2019. PMID: 31213567

7

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB. García-Cazorla A, et al. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431

8

Improving Reading Skills Using a Computerized Phonological Training Program in Early Readers with Reading Difficulties.

Forné S, López-Sala A, Mateu-Estivill R, Adan A, Caldú X, Rifà-Ros X, Serra-Grabulosa JM. Forné S, et al. Among authors: lopez sala a. Int J Environ Res Public Health. 2022 Sep 13;19(18):11526. doi: 10.3390/ijerph191811526. Int J Environ Res Public Health. 2022. PMID: 36141796 Free PMC article. Clinical Trial.

9

[Prognostic factors and profile in traumatic brain injury in the paediatric age].

Sanz-Palau M, López-Sala A, Palacio-Navarro A, Turón M, Callejón-Póo L, Sans A, Póo P, Boix C, Colomé R. Sanz-Palau M, et al. Among authors: lopez sala a. Rev Neurol. 2020 Apr 1;70(7):235-245. doi: 10.33588/rn.7007.2019393. Rev Neurol. 2020. PMID: 32182370 Free article. Spanish.

10

School performance in early and continuously treated phenylketonuria.

Gassió R, Fusté E, López-Sala A, Artuch R, Vilaseca MA, Campistol J. Gassió R, et al. Pediatr Neurol. 2005 Oct;33(4):267-71. doi: 10.1016/j.pediatrneurol.2005.05.003. Pediatr Neurol. 2005. PMID: 16194725

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