Artículos por temáticas

Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia.

Rance G, Corben LA, Du Bourg E, King A, Delatycki MB.

Neuroscience. 2010 Dec 1;171(2):552-5. doi: 10.1016/j.neuroscience.2010.09.013.

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M.

Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y.

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.

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM.

Neurology. 2010 Jul 27;75(4):367-72. doi: 10.1212/WNL.0b013e3181ea9ee3.

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P.

Eur J Neurol. 2010 Jan;17(1):124-8. doi: 10.1111/j.1468-1331.2009.02757.x.

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.

Lorenzo DN, Li MG, Mische SE, Armbrust KR, Ranum LP, Hays TS.

J Cell Biol. 2010 Apr 5;189(1):143-58. doi: 10.1083/jcb.200905158.

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.

Posterior fossa imaging in 158 children with ataxia.

Boddaert N, Desguerre I, Bahi-Buisson N, Romano S, Valayannopoulos V, Saillour Y, Seidenwurm D, Grevent D, Berteloot L, Lebre AS, Zilbovicius M, Puget S, Salomon R, Attie-Bitach T, Munnich A, Brunelle

J Neuroradiol. 2010 Oct;37(4):220-30. doi: 10.1016/j.neurad.2009.12.009.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.

Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.

Adv Exp Med Biol. 2010;685:21-33. Review.

Ataxia and the olivo-cerebellar module.

Libster AM, Lefler Y, Yaron-Jakoubovitch A, Yarom Y.

Funct Neurol. 2010 Jul-Sep;25(3):129-33. Review.

Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.

Yamamoto K, Seki T, Adachi N, Takahashi T, Tanaka S, Hide I, Saito N, Sakai N.

Genes Cells. 2010 May;15(5):425-38. doi: 10.1111/j.1365-2443.2010.01395.x.

A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia.

Lynch DR, Perlman SL, Meier T.

Arch Neurol. 2010 Aug;67(8):941-7. doi: 10.1001/archneurol.2010.168.

A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7.

Sokolovsky N, Cook A, Hunt H, Giunti P, Cipolotti L.

Behav Neurol. 2010;23(1-2):17-29. doi: 10.3233/BEN-2010-0270. Erratum in: Behav Neurol. 2010;23(3):159.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C,

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544.

Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7.

Han Y, Deng B, Liu M, Jiang J, Wu S, Guan Y.

Neurol India. 2010 Jul-Aug;58(4):622-6. doi: 10.4103/0028-3886.68674.