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Bibliografía Científica

Artículos por temáticas

En este apartado encontrará la selección de artículos sobre Trastornos del Movimiento clasificados según los 11 tipos establecidos por International Parkinson & Movement Disorder Society.

Ataxia

435 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.

Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, Perlman SL, Pook MA, Cortopassi GA.

Hum Mol Genet. 2014 Dec 20;23(25):6848-62. doi: 10.1093/hmg/ddu408.

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Rapidly progressive ataxia during rehabilitation and a difficult road to diagnosis.

Shea YF, Chan TC, Chang RS, Hon FK, Kwan JS, Chu LW.

J Am Geriatr Soc. 2014 Aug;62(8):1609-10. doi: 10.1111/jgs.12955. No abstract available.

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PUBMED

A novel locus for episodic ataxia:UBR4 the likely candidate.

Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S.

Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173.

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Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, Drouin CA, Rouleau GA, Nguyen DK, Cossette P.

JAMA Neurol. 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.

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PUBMED

Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3.

Jhunjhunwala K, Netravathi M, Purushottam M, Jain S, Pal PK.

J Clin Neurosci. 2014 Jun;21(6):1002-6. doi: 10.1016/j.jocn.2013.10.021.

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Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families.

Zaheer F, Fee D.

Case Rep Neurol Med. 2014;2014:514791. doi: 10.1155/2014/514791.

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White matter changes in patients with friedreich ataxia after treatment with erythropoietin.

Egger K, Clemm von Hohenberg C, Schocke MF, Guttmann CR, Wassermann D, Wigand MC, Nachbauer W, Kremser C, Sturm B, Scheiber-Mojdehkar B, Kubicki M, Shenton ME, Boesch S.

J Neuroimaging. 2014 Sep-Oct;24(5):504-8. doi: 10.1111/jon.12050.

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PUBMED

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.

Löbbe AM, Kang JS, Hilker R, Hackstein H, Müller U, Nolte D.

J Mol Neurosci. 2014 Apr;52(4):493-6. doi: 10.1007/s12031-013-0187-1.

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PUBMED

The assessment and treatment of postural disorders in cerebellar ataxia: a systematic review.

Marquer A, Barbieri G, Pérennou D.

Ann Phys Rehabil Med. 2014 Mar;57(2):67-78. doi: 10.1016/j.rehab.2014.01.002. Review.

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PUBMED

Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease.

Velázquez-Pérez L, Rodríguez-Labrada R, Cruz-Rivas EM, Fernández-Ruiz J, Vaca-Palomares I, Lilia-Campins J, Cisneros B, Peña-Acosta A, Vázquez-Mojena Y, Diaz R, Magaña-Aguirre JJ, Cruz-Mariño T, Estup

Cerebellum. 2014 Oct;13(5):568-79. doi: 10.1007/s12311-014-0574-3.

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PUBMED

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.

Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H.

Clin Genet. 2014 Mar;85(3):296-7. doi: 10.1111/cge.12140. No abstract available.

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PUBMED

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.

Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N.

J Neurodev Disord. 2014;6(1):23. doi: 10.1186/1866-1955-6-23. Review.

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PUBMED

The effectiveness of allied health care in patients with ataxia: a systematic review.

Fonteyn EM, Keus SH, Verstappen CC, Schöls L, de Groot IJ, van de Warrenburg BP.

J Neurol. 2014 Feb;261(2):251-8. doi: 10.1007/s00415-013-6910-6. Review.

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PUBMED

Aqueous extract of Glycyrrhiza inflata inhibits aggregation by upregulating PPARGC1A and NFE2L2-ARE pathways in cell models of spinocerebellar ataxia 3.

Chen CM, Weng YT, Chen WL, Lin TH, Chao CY, Lin CH, Chen IC, Lee LC, Lin HY, Wu YR, Chen YC, Chang KH, Tang HY, Cheng ML, Lee-Chen GJ, Lin JY.

Free Radic Biol Med. 2014 Jun;71:339-50. doi: 10.1016/j.freeradbiomed.2014.03.023.

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PUBMED

The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.

Wang Y, Wang Y, Marcus S, Busenlehner LS.

Biochim Biophys Acta. 2014 Oct;1840(10):3022-33. doi: 10.1016/j.bbagen.2014.06.017.

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