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Bibliografía Científica

Artículo Destacado en trastornos del movimiento

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

443 ARTíCULOS , VIENDO DEL 46 AL 60

PUBMED

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.

Gene. 2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066.

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PUBMED

The cerebellum looks normal in Friedreich ataxia.

Mascalchi M.

AJNR Am J Neuroradiol. 2013 Feb;34(2):E22. doi: 10.3174/ajnr.A3480. No abstract available.

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PUBMED

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Huang Y, Yang L, Wang J, Yang F, Xiao Y, Xia R, Yuan X, Yan M.

Neuromolecular Med. 2013 Sep;15(3):536-40. doi: 10.1007/s12017-013-8240-3. Erratum in: Neuromolecular Med. 2014 Mar;16(1):216.

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PUBMED

[Chronic ataxia in childhood].

Erazo Torricelli R.

Medicina (B Aires). 2013;73 Suppl 1:38-48. Review. Spanish.

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PUBMED

Disruption of visual and motor connectivity in spinocerebellar ataxia type 7.

Hernandez-Castillo CR, Alcauter S, Galvez V, Barrios FA, Yescas P, Ochoa A, Garcia L, Diaz R, Gao W, Fernandez-Ruiz J.

Mov Disord. 2013 Oct;28(12):1708-16. doi: 10.1002/mds.25618.

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PUBMED

Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

Shaikh AG, Zee DS, Mandir AS, Lederman HM, Crawford TO.

PLoS One. 2013 Jun 27;8(6):e67042. doi: 10.1371/journal.pone.0067042.

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PUBMED

GABA-A receptor impairment in cerebellar ataxia with anti-glutamic acid decarboxylase antibodies.

Hosoi Y, Suzuki-Sakao M, Terada T, Konishi T, Ouchi Y, Miyajima H, Kono S.

J Neurol. 2013 Dec;260(12):3086-92. doi: 10.1007/s00415-013-7092-y.

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PUBMED

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

Lufino MM, Silva AM, Németh AH, Alegre-Abarrategui J, Russell AJ, Wade-Martins R.

Hum Mol Genet. 2013 Dec 20;22(25):5173-87. doi: 10.1093/hmg/ddt370.

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PUBMED

Therapeutic strategies in Friedreich's ataxia.

Richardson TE, Kelly HN, Yu AE, Simpkins JW.

Brain Res. 2013 Jun 13;1514:91-7. doi: 10.1016/j.brainres.2013.04.005. Review.

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PUBMED

Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series.

Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K.

J Neurol. 2013 Oct;260(10):2556-61. doi: 10.1007/s00415-013-7016-x.

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PUBMED

Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.

Middlebrooks JC, Nick HS, Subramony SH, Advincula J, Rosales RL, Lee LV, Ashizawa T, Waters MF.

PLoS One. 2013 Oct 7;8(10):e76749. doi: 10.1371/journal.pone.0076749.

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PUBMED

Does intrathecal baclofen have a place in the treatment of painful spasms in friedreich ataxia?

Berntsson SG, Holtz A, Melberg A.

Case Rep Neurol. 2013 Nov 21;5(3):201-3. doi: 10.1159/000356823.

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PUBMED

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS.

Neurogenetics. 2013 Nov;14(3-4):257-8. doi: 10.1007/s10048-013-0370-0. No abstract available. Erratum in: Neurogenetics. 2015 Jul;16(3):243.

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PUBMED

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5.

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PUBMED

The management of hyperleukocytosis in an adult patient with acute lymphoblastic leukemia and ataxia-telangiectasia.

Keklik M, Sivgin S, Kalin BS, Akyol G, Pala C, Solmaz M, Kaynar L, Eser B, Cetin M, Unal A.

Transfus Apher Sci. 2013 Jun;48(3):293-5. doi: 10.1016/j.transci.2013.04.001.

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