Pascual-Alonso A - Search Results

1

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

Vidal S, Brandi N, Pacheco P, Maynou J, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Eur J Paediatr Neurol. 2019 Jul;23(4):609-620. doi: 10.1016/j.ejpn.2019.04.006. Epub 2019 May 2. Eur J Paediatr Neurol. 2019. PMID: 31105003

2

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Vidal S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Among authors: pascual alonso a. Mol Genet Genomic Med. 2019 Aug;7(8):e793. doi: 10.1002/mgg3.793. Epub 2019 Jun 17. Mol Genet Genomic Med. 2019. PMID: 31206249 Free PMC article.

3

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

Vidal S, Xiol C, Pascual-Alonso A, O'Callaghan M, Pineda M, Armstrong J. Vidal S, et al. Among authors: pascual alonso a. Int J Mol Sci. 2019 Aug 12;20(16):3925. doi: 10.3390/ijms20163925. Int J Mol Sci. 2019. PMID: 31409060 Free PMC article. Review.

4

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. Among authors: pascual alonso a. Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w. Sci Rep. 2019. PMID: 31427717 Free PMC article.

5

MECP2-Related Disorders in Males.

Pascual-Alonso A, Martínez-Monseny AF, Xiol C, Armstrong J. Pascual-Alonso A, et al. Int J Mol Sci. 2021 Sep 4;22(17):9610. doi: 10.3390/ijms22179610. Int J Mol Sci. 2021. PMID: 34502518 Free PMC article. Review.

6

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

Xiol C, Heredia M, Pascual-Alonso A, Oyarzabal A, Armstrong J. Xiol C, et al. Among authors: pascual alonso a. Int J Mol Sci. 2021 Sep 26;22(19):10375. doi: 10.3390/ijms221910375. Int J Mol Sci. 2021. PMID: 34638716 Free PMC article. Review.

7

Molecular characterization of Spanish patients with MECP2 duplication syndrome.

Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567

8

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol C, Ivan C, Shimizu M, Armstrong J, Calin GA, Pasterkamp RJ, Esteller M, Guil S. Siqueira E, et al. Among authors: pascual alonso a. Mol Ther Nucleic Acids. 2021 Dec 22;27:621-644. doi: 10.1016/j.omtn.2021.12.030. eCollection 2022 Mar 8. Mol Ther Nucleic Acids. 2021. PMID: 35036070 Free PMC article.

9

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Castells AA, Balada R, Tristán-Noguero A, O'Callaghan M, Cortès-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla À, Armstrong J, Alcántara S. Castells AA, et al. Among authors: pascual alonso a. Biomedicines. 2021 Feb 3;9(2):148. doi: 10.3390/biomedicines9020148. Biomedicines. 2021. PMID: 33546327 Free PMC article.

10

Multi-omics in MECP2 duplication syndrome patients and carriers.

Pascual-Alonso A, Xiol C, Smirnov D, Kopajtich R, Prokisch H, Armstrong J. Pascual-Alonso A, et al. Eur J Neurosci. 2024 Jul;60(2):4004-4018. doi: 10.1111/ejn.16389. Epub 2024 May 15. Eur J Neurosci. 2024. PMID: 38746988

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