Matilla-Dueñas A - Search Results

1

POLR3A-related spastic ataxia: new mutations and a look into the phenotype.

Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A. Infante J, et al. Among authors: matilla duenas a. J Neurol. 2020 Feb;267(2):324-330. doi: 10.1007/s00415-019-09574-9. Epub 2019 Oct 21. J Neurol. 2020. PMID: 31637490

2

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias.

Matilla-Dueñas A, Sánchez I, Corral-Juan M, Dávalos A, Alvarez R, Latorre P. Matilla-Dueñas A, et al. Cerebellum. 2010 Jun;9(2):148-66. doi: 10.1007/s12311-009-0144-2. Cerebellum. 2010. PMID: 19890685 Review.

3

Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter.

Martin-Trujillo A, Iglesias-Platas I, Coto E, Corral-Juan M, San Nicolás H, Corral J, Volpini V, Matilla-Dueñas A, Monk D. Martin-Trujillo A, et al. Epigenetics. 2011 Oct 1;6(10):1236-41. doi: 10.4161/epi.6.10.17654. Epub 2011 Oct 1. Epigenetics. 2011. PMID: 21931279 Free article.

4

The spinocerebellar ataxias: clinical aspects and molecular genetics.

Matilla-Dueñas A, Corral-Juan M, Volpini V, Sanchez I. Matilla-Dueñas A, et al. Adv Exp Med Biol. 2012;724:351-74. doi: 10.1007/978-1-4614-0653-2_27. Adv Exp Med Biol. 2012. PMID: 22411256 Review.

5

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

Sánchez I, Piñol P, Corral-Juan M, Pandolfo M, Matilla-Dueñas A. Sánchez I, et al. Hum Mol Genet. 2013 Sep 1;22(17):3425-37. doi: 10.1093/hmg/ddt197. Epub 2013 Apr 29. Hum Mol Genet. 2013. PMID: 23630944 Free PMC article.

6

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. Serrano-Munuera C, et al. JAMA Neurol. 2013 Jun;70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. JAMA Neurol. 2013. PMID: 23700170

7

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sánchez I. Matilla-Dueñas A, et al. Cerebellum. 2014 Apr;13(2):269-302. doi: 10.1007/s12311-013-0539-y. Cerebellum. 2014. PMID: 24307138 Free PMC article.

8

Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

López E, Casasnovas C, Giménez J, Matilla-Dueñas A, Sánchez I, Volpini V. López E, et al. Neurogenetics. 2015 Apr;16(2):97-105. doi: 10.1007/s10048-014-0429-6. Epub 2014 Nov 16. Neurogenetics. 2015. PMID: 25398481

9

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1).

Sánchez I, Balagué E, Matilla-Dueñas A. Sánchez I, et al. Hum Mol Genet. 2016 Sep 15;25(18):4021-4040. doi: 10.1093/hmg/ddw242. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466200

10

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

Martín-Hernández E, Rodríguez-García ME, Camacho A, Matilla-Dueñas A, García-Silva MT, Quijada-Fraile P, Corral-Juan M, Tejada-Palacios P, de Las Heras RS, Arenas J, Martín MA, Martínez-Azorín F. Martín-Hernández E, et al. Neurogenetics. 2016 Oct;17(4):259-263. doi: 10.1007/s10048-016-0496-y. Epub 2016 Sep 28. Neurogenetics. 2016. PMID: 27679995

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