Matilla-Dueñas A - Search Results

1

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

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

Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.

Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Saute JA, et al. Cerebellum. 2012 Jun;11(2):488-504. doi: 10.1007/s12311-011-0316-8. Cerebellum. 2012. PMID: 21964941 Review.

5

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.

6

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.

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

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I. Matilla-Dueñas A, et al. Adv Exp Med Biol. 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. Adv Exp Med Biol. 2017. PMID: 29214587 Review.

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