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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

338 ARTíCULOS , VIENDO DEL 1 AL 15

PUBMED

Investigation of tRNA and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients.

Houshmand M, Kasraie S, Etemad Ahari S, Moin M, Bahar M, Zamani A.

Arch Med Sci. 2011 Jun;7(3):523-7. doi: 10.5114/aoms.2011.23424.

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Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice.

Kumar R, Hunt CR, Gupta A, Nannepaga S, Pandita RK, Shay JW, Bachoo R, Ludwig T, Burns DK, Pandita TK.

Proc Natl Acad Sci U S A. 2011 Mar 1;108(9):3636-41. doi: 10.1073/pnas.1016524108.

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New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).

Juncos JL, Lazarus JT, Graves-Allen E, Shubeck L, Rusin M, Novak G, Hamilton D, Rohr J, Sherman SL.

Neurogenetics. 2011 May;12(2):123-35. doi: 10.1007/s10048-010-0270-5.

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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Whaley NR, Fujioka S, Wszolek ZK.

Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. Review.

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Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies.

Lu PH, Wei MX, Si SP, Liu X, Shen W, Tao GQ, Chen MB.

Breast Cancer Res Treat. 2011 Feb;126(1):141-8. doi: 10.1007/s10549-010-1081-y.

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PUBMED

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A.

Am J Hum Genet. 2011 Jul 15;89(1):121-30. doi: 10.1016/j.ajhg.2011.05.015.

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PUBMED

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells.

Coufal NG, Garcia-Perez JL, Peng GE, Marchetto MC, Muotri AR, Mu Y, Carson CT, Macia A, Moran JV, Gage FH.

Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20382-7. doi: 10.1073/pnas.1100273108.

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Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia.

Nanri K, Shibuya M, Taguchi T, Hasegawa A, Tanaka N.

Diagn Pathol. 2011 Feb 4;6:14. doi: 10.1186/1746-1596-6-14.

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PUBMED

Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium.

Teive HA, Arruda WO, Raskin S, Munhoz RP, Zavala JA, Werneck LC, Ashizawa T.

J Clin Neurosci. 2011 Mar;18(3):437-8. doi: 10.1016/j.jocn.2010.07.102.

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Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.

Li J, Chen J, Vinters HV, Gatti RA, Herrup K.

J Neurosci. 2011 May 18;31(20):7568-77. doi: 10.1523/JNEUROSCI.0778-11.2011.

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PUBMED

High altitude ataxia--its assessment and relevance.

Bird BA, Wright AD, Wilson MH, Johnson BG, Imray CH; Birmingham Medical Research Expeditionary Society..

Wilderness Environ Med. 2011 Jun;22(2):172-6. doi: 10.1016/j.wem.2011.02.001. Review.

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Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology.

Takao M, Aoyama M, Ishikawa K, Sakiyama Y, Yomono H, Saito Y, Kurisaki H, Mihara B, Murayama S.

BMJ Case Rep. 2011 Apr 1;2011. pii: bcr0120113685. doi: 10.1136/bcr.01.2011.3685.

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Ataxia and cranial neuropathies from subcutaneously injected elemental mercury.

Malkani R, Weinstein JM, Kumar N, Victor TA, Bernstein L.

Clin Toxicol (Phila). 2011 Apr;49(4):334-6. doi: 10.3109/15563650.2011.566881.

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PUBMED

Aberrant CD8+ T-cell responses and memory differentiation upon viral infection of an ataxia-telangiectasia mouse model driven by hyper-activated Akt and mTORC1 signaling.

D'Souza AD, Parish IA, McKay SE, Kaech SM, Shadel GS.

Am J Pathol. 2011 Jun;178(6):2740-51. doi: 10.1016/j.ajpath.2011.02.022.

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Persistent but less severe ataxia in long-term versus short-term abstinent alcoholic men and women: a cross-sectional analysis.

Smith S, Fein G.

Alcohol Clin Exp Res. 2011 Dec;35(12):2184-92. doi: 10.1111/j.1530-0277.2011.01567.x.

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