García-Cazorla A - Search Results

1

[Diploid/triploid mosaicism: a variable but characteristic phenotype].

Natera-De Benito D, Poo P, Gean E, Vicente-Villa A, García-Cazorla A, Fons-Estupiña MC. Natera-De Benito D, et al. Rev Neurol. 2014 Aug 16;59(4):158-63. Rev Neurol. 2014. PMID: 25059266 Free article. Review. Spanish.

2

White matter alterations associated with chromosomal disorders.

García-Cazorla A, Sans A, Baquero M, García-Bargo MD, Arellano M, Poo P, Gean E, Campistol J. García-Cazorla A, et al. Dev Med Child Neurol. 2004 Mar;46(3):148-53. doi: 10.1017/s0012162204000271. Dev Med Child Neurol. 2004. PMID: 14995083 Free article.

3

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

Cerisola A, Campistol J, Pérez-Dueñas B, Poo P, Pineda M, García-Cazorla A, Sanmartí FX, Ribes A, Vilaseca MA. Cerisola A, et al. Pediatr Neurol. 2009 Jun;40(6):426-31. doi: 10.1016/j.pediatrneurol.2008.12.009. Pediatr Neurol. 2009. PMID: 19433275

4

[Diffusion-weighted imaging in pediatric central nervous system infections].

Benavente-Fernández I, García-Cazorla A, Jordán-García Y, Capdevila-Cirera A, Campistol J. Benavente-Fernández I, et al. Rev Neurol. 2010 Feb 1-15;50(3):133-8. Rev Neurol. 2010. PMID: 20146185 Free article. Spanish.

5

[Hypotonia in the neonatal period: 12 years' experience].

Jiménez E, García-Cazorla À, Colomer J, Nascimento A, Iriondo M, Campistol J. Jiménez E, et al. Rev Neurol. 2013 Jan 16;56(2):72-8. Rev Neurol. 2013. PMID: 23307352 Free article. Spanish.

6

[Neuronal communication and synaptic metabolism in childhood epilepsy].

García-Cazorla À, Cortès-Saladelafont E, Duarte S. García-Cazorla À, et al. Rev Neurol. 2015 Mar 1;60(5):219-28. Rev Neurol. 2015. PMID: 25710692 Free article. Review. Spanish.

7

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.

8

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group. Xiol C, et al. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.

9

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639

10

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Sci Rep. 2021. PMID: 34493777 Free PMC article. No abstract available.

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