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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

408 ARTíCULOS , VIENDO DEL 46 AL 60

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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Decreased metabotropic glutamate receptor type 1 availability in a patient with spinocerebellar ataxia type 6: A (11)C-ITMM PET study.

Ishibashi K, Miura Y, Ishikawa K, Ishii K, Ishiwata K.

J Neurol Sci. 2015 Aug 15;355(1-2):202-5. doi: 10.1016/j.jns.2015.05.041.

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PUBMED

Progressive Charolais ataxia in calves.

[No authors listed]

Vet Rec. 2015 Jan 10;176(2):42-5. doi: 10.1136/vr.g7621. No abstract available.

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Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia.

Squadrone S, Brizio P, Mancini C, Pozzi E, Cavalieri S, Abete MC, Brusco A.

Neurobiol Dis. 2015 Sep;81:162-7. doi: 10.1016/j.nbd.2015.04.001.

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Ataxia of cortical origin via crossed cerebellar diaschisis.

Kwon YC, Kim JH, Ahn TB.

Neurol Sci. 2015 Jan;36(1):161-3. doi: 10.1007/s10072-014-1846-x. No abstract available.

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PUBMED

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.

Teive HA, Moscovich M, Moro A, Farah M, Arruda WO, Munhoz RP.

Arq Neuropsiquiatr. 2015 Nov;73(11):903-5. doi: 10.1590/0004-282X20150139.

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Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Raposo M, Ramos A, Bettencourt C, Lima M.

Brain. 2015 Dec;138(Pt 12):e398. doi: 10.1093/brain/awv206. No abstract available.

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PUBMED

Sun1 deficiency leads to cerebellar ataxia in mice.

Wang JY, Yu IS, Huang CC, Chen CY, Wang WP, Lin SW, Jeang KT, Chi YH.

Dis Model Mech. 2015 Aug 1;8(8):957-67. doi: 10.1242/dmm.019240.

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PUBMED

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS.

PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599.

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Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).

Doldur-Balli F, Ozel MN, Gulsuner S, Tekinay AB, Ozcelik T, Konu O, Adams MM.

BMC Neurosci. 2015 Dec 23;16(1):96. doi: 10.1186/s12868-015-0229-4.

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Long-term improvement of tremor and ataxia after bilateral DBS of VoP/zona incerta in FXTAS.

dos Santos Ghilardi MG, Cury RG, dos Ângelos JS, Barbosa DC, Barbosa ER, Teixeira MJ, Fonoff ET.

Neurology. 2015 May 5;84(18):1904-6. doi: 10.1212/WNL.0000000000001553. No abstract available.

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PUBMED

Spinocerebellar ataxia type 10 in Chinese Han.

Wang K, McFarland KN, Liu J, Zeng D, Landrian I, Xia G, Hao Y, Jin M, Mulligan CJ, Gu W, Ashizawa T.

Neurol Genet. 2015 Oct 8;1(3):e26. doi: 10.1212/NXG.0000000000000026.

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A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds.

Rohdin C, Gilliam D, O'Leary CA, O'Brien DP, Coates JR, Johnson GS, Jäderlund KH.

Acta Vet Scand. 2015 May 23;57:26. doi: 10.1186/s13028-015-0115-1.

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PUBMED

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.

Velázquez-Pérez L, Cerecedo-Zapata CM, Hernández-Hernández O, Martínez-Cruz E, Tapia-Guerrero YS, González-Piña R, Salas-Vargas J, Rodríguez-Labrada R, Gurrola-Betancourth R, Leyva-García N, Cisneros

Neurogenetics. 2015 Jan;16(1):11-21. doi: 10.1007/s10048-014-0424-y.

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Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.

Plutino M, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Rouzier C, Augé G, Sacconi S, Pouget J, Paquis-Flucklinger V.

J Neurol Sci. 2015 Apr 15;351(1-2):196-7. doi: 10.1016/j.jns.2015.02.025. No abstract available.

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