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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 6931 AL 6945

PUBMED

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Riant F, Lescoat C, Vahedi K, Kaphan E, Toutain A, Soisson T, Wiener-Vacher SR, Tournier-Lasserve E.

Neurogenetics. 2010 Feb;11(1):101-6. doi: 10.1007/s10048-009-0208-y.

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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.

J Neurol. 2015 May;262(5):1278-84. doi: 10.1007/s00415-015-7705-8.

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High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G.

Clin Chem. 2013 Oct;59(10):1461-9. doi: 10.1373/clinchem.2013.207472.

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Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12).

Wang YC, Lee CM, Lee LC, Tung LC, Hsieh-Li HM, Lee-Chen GJ, Su MT.

J Biol Chem. 2011 Jun 17;286(24):21742-54. doi: 10.1074/jbc.M110.160697.

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Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs.

Doshi A, Ryu J, Thornburg CD, Hershey D, Cherry R, Milligan K, Rosenzweig S, Leonard S.

Ann Allergy Asthma Immunol. 2016 Sep;117(3):221-6. doi: 10.1016/j.anai.2016.07.028. No abstract available.

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Sequelae of Lassa Fever: Postviral Cerebellar Ataxia.

Ezeomah C, Adoga A, Ihekweazu C, Paessler S, Cisneros I, Tomori O, Walker D.

Open Forum Infect Dis. 2019 Dec 3;6(12):ofz512. doi: 10.1093/ofid/ofz512. eCollection 2019 Dec. Review.

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Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.

Magaña JJ, Tapia-Guerrero YS, Velázquez-Pérez L, Cruz-Mariño T, Cerecedo-Zapata CM, Gómez R, Murillo-Melo NM, González-Piña R, Hernández-Hernández O, Cisneros B.

Int J Clin Exp Med. 2014 Dec 15;7(12):5896-903.

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A single case report of MR-guided focused ultrasound thalamotomy for tremor in fragile X-associated tremor/ataxia.

Cerquera C, Rumià J, Herrera JM, Moreno V, Bargalló N, Valldeoriola F.

Parkinsonism Relat Disord. 2016 Jul;28:159-60. doi: 10.1016/j.parkreldis.2016.04.002. No abstract available.

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The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis.

Cassidy E, Naylor S, Reynolds F.

Disabil Rehabil. 2017 Feb 6:1-14. doi: 10.1080/09638288.2016.1277400. [Epub ahead of print]

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Pseudotumor cerebri presenting with ataxia and hyper-reflexia in a non-obese woman treated with sinus stenting.

Teleb MS, Rekate H, Chung S, Albuquerque FC.

J Neurointerv Surg. 2012 Sep;4(5):e22. doi: 10.1136/neurintsurg-2011-010073.

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PUBMED

Quantitative phosphoproteomics of the ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia-mutated and rad3-related (ATR) dependent DNA damage response in Arabidopsis thaliana.

Roitinger E, Hofer M, Köcher T, Pichler P, Novatchkova M, Yang J, Schlögelhofer P, Mechtler K.

Mol Cell Proteomics. 2015 Mar;14(3):556-71. doi: 10.1074/mcp.M114.040352.

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Nerve ultrasound as a diagnostic tool for sensory neuronopathy in spinocerebellar ataxia syndrome.

Leadbetter R, Weatherall M, Pelosi L.

Clin Neurophysiol. 2019 Apr;130(4):568-572. doi: 10.1016/j.clinph.2018.12.010. Epub 2019 Jan 19.

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PUBMED

Ataxia.

Winchester S, Singh PK, Mikati MA.

Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Review.

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Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration.

Jafar-Nejad P, Ward CS, Richman R, Orr HT, Zoghbi HY.

Proc Natl Acad Sci U S A. 2011 Feb 1;108(5):2142-7. doi: 10.1073/pnas.1018748108.

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[Plum-blossom needle tapping at Jiaji(EX-B 2) combined with rehabilitation for ataxia of cerebellar apoplexy: a randomized controlled trial].

Zhang L, Wang F, Shi Y, Wang J, Xie Q.

Zhongguo Zhen Jiu. 2016 Feb;36(2):131-4. Chinese.

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