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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

7060 ARTíCULOS , VIENDO DEL 6871 AL 6885

PUBMED

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J.

BMC Med Genet. 2015 Jul 21;16:51. doi: 10.1186/s12881-015-0200-3.

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PUBMED

Hypergonadotropic hypogonadism and cerebellar ataxia: an unusual association.

Braga-Neto P, Martins MC, Santos-Neto D, Weisman P, Costa Ede P, Pinto LM, Santos-Galduroz RF, Verreschi IT, Barsottini OG.

Arq Neuropsiquiatr. 2010 Feb;68(1):132-4. No abstract available.

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PUBMED

Rehabilitation for ataxia following chemotherapy for burkitt lymphoma involving the rectum.

Kim HS, Jung CO, Jeon HR, Sung LH.

Ann Rehabil Med. 2012 Aug;36(4):578-83. doi: 10.5535/arm.2012.36.4.578.

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PUBMED

Reachability judgement in optic ataxia: Effect of peripheral vision on hand and target perception in depth.

Bartolo A, Rossetti Y, Revol P, Urquizar C, Pisella L, Coello Y.

Cortex. 2018 Jan;98:102-113. doi: 10.1016/j.cortex.2017.05.013. Epub 2017 May 25.

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PUBMED

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

Leonardi L, Marcotulli C, McFarland KN, Tessa A, DiFabio R, Santorelli FM, Pierelli F, Ashizawa T, Casali C.

J Neurol. 2014 Sep;261(9):1691-4. doi: 10.1007/s00415-014-7394-8.

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Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.

Almaguer-Mederos LE, Falcón NS, Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz GS, Laffita-Mesa J, Cyuz TM, Chang V, Auburger G, Gispert S, Pér

Clin Genet. 2010 Aug;78(2):169-74. doi: 10.1111/j.1399-0004.2009.01358.x.

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PUBMED

Bilateral maculopathy in a patient with ataxia telangiectasia.

Gioia LV, Bonsall D, Moffett K, Leys M.

J AAPOS. 2016 Feb;20(1):85-8. doi: 10.1016/j.jaapos.2015.10.005.

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PUBMED

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.

Qiu Y, Zhong S, Cong L, Xin L, Gao X, Zhang J, Hong D.

Ann Clin Transl Neurol. 2018 Sep 17;5(11):1415-1420. doi: 10.1002/acn3.650. eCollection 2018 Nov.

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PUBMED

Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol.

Teive HA, Munhoz RP, Ashizawa T.

Arq Neuropsiquiatr. 2011 Oct;69(5):841. No abstract available.

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PUBMED

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY.

CNS Neurosci Ther. 2018 May 13. doi: 10.1111/cns.12972. [Epub ahead of print]

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PUBMED

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Novak MJ, Sweeney MG, Li A, Treacy C, Chandrashekar HS, Giunti P, Goold RG, Davis MB, Houlden H, Tabrizi SJ.

Mov Disord. 2010 Oct 15;25(13):2176-82. doi: 10.1002/mds.23223.

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PUBMED

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs.

Ishida Y, Kawakami H, Kitajima H, Nishiyama A, Sasai Y, Inoue H, Muguruma K.

Cell Rep. 2017 Jan 24;18(4):1075-1076. doi: 10.1016/j.celrep.2017.01.012. No abstract available.

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PUBMED

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17.

Kim KJ, Kim JM, Bae YJ, Yoon IY, Song YS, Kim SE.

J Clin Sleep Med. 2019 Jan 15;15(1):153-155. doi: 10.5664/jcsm.7592.

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PUBMED

Radiological imaging in ataxia telangiectasia: a review.

Sahama I, Sinclair K, Pannek K, Lavin M, Rose S.

Cerebellum. 2014 Aug;13(4):521-30. doi: 10.1007/s12311-014-0557-4. Review.

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PUBMED

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H.

Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829.

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