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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

5695 ARTíCULOS , VIENDO DEL 5566 AL 5580

PUBMED

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.

Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M.

Dis Model Mech. 2017 Nov 1;10(11):1353-1369. doi: 10.1242/dmm.030536.

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Far-infrared radiation protects viability in a cell model of Spinocerebellar Ataxia by preventing polyQ protein accumulation and improving mitochondrial function.

Chang JC, Wu SL, Hoel F, Cheng YS, Liu KH, Hsieh M, Hoel A, Tronstad KJ, Yan KC, Hsieh CL, Lin WY, Kuo SJ, Su SL, Liu CS.

Sci Rep. 2016 Jul 29;6:30436. doi: 10.1038/srep30436.

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PUBMED

PLD3 and spinocerebellar ataxia.

Gonzalez AC, Stroobants S, Reisdorf P, Gavin AL, Nemazee D, Schwudke D, D'Hooge R, Saftig P, Damme M.

Brain. 2018 Nov 1;141(11):e78. doi: 10.1093/brain/awy258. No abstract available.

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PUBMED

Nicotinamide in Friedreich's ataxia: useful or not?

Lynch DR, Fischbeck KH.

Lancet. 2014 Aug 9;384(9942):474-5. doi: 10.1016/S0140-6736(14)60573-0. No abstract available.

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PUBMED

Targeting potassium channels to treat cerebellar ataxia.

Bushart DD, Chopra R, Singh V, Murphy GG, Wulff H, Shakkottai VG.

Ann Clin Transl Neurol. 2018 Jan 22;5(3):297-314. doi: 10.1002/acn3.527. eCollection 2018 Mar.

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Pulmonary function tests in patients with ataxia-telangiectasia: obstructive or restrictive lung dysfunction?

Neeleman C, Verhagen M, van Deuren M, Willemsen M, van der Hoeven H, Yntema JB, Weemaes C, Heijdra Y.

Pediatr Pulmonol. 2010 Oct;45(10):1043-4; author reply 1045. doi: 10.1002/ppul.21276. No abstract available.

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PUBMED

Ataxia, hyperpnoea and mental retardation: was it the molar tooth?

Amin OS, Shwani SS.

BMJ Case Rep. 2010 Apr 29;2010. pii: bcr1020092331. doi: 10.1136/bcr.10.2009.2331.

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PUBMED

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G.

JAMA Neurol. 2015 Feb;72(2):219-23. doi: 10.1001/jamaneurol.2014.1902.

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PUBMED

Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

Braga-Neto P, Pedroso JL, Alessi H, de Souza PV, Bertolucci PH, Barsottini OG.

J Neurol. 2013 Apr;260(4):1177-9. doi: 10.1007/s00415-013-6879-1. No abstract available.

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PUBMED

Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240.

Seki T, Sato M, Kibe Y, Ohta T, Oshima M, Konno A, Hirai H, Kurauchi Y, Hisatsune A, Katsuki H.

Neurobiol Dis. 2018 Sep 2;120:34-50. doi: 10.1016/j.nbd.2018.08.022. [Epub ahead of print]

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PUBMED

Characteristics of gait ataxia in δ2 glutamate receptor mutant mice, ho15J.

Takeuchi E, Sato Y, Miura E, Yamaura H, Yuzaki M, Yanagihara D.

PLoS One. 2012;7(10):e47553. doi: 10.1371/journal.pone.0047553.

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PUBMED

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x.

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FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.

Su SL, Wang WF, Wu SL, Wu HM, Chang JC, Huang CS, Cheng WL, Soong BW, Lee YC, Li JY, Kuo SJ, Chen M, Huang CN, Liu CS.

Clin Chim Acta. 2012 Dec 24;414:225-7. doi: 10.1016/j.cca.2012.09.019.

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A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.

Qu J, Wu CK, Zuzuárregui JR, Hohler AD.

J Neurol Sci. 2015 Nov 15;358(1-2):530-1. doi: 10.1016/j.jns.2015.10.003. No abstract available.

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