Artículos por temáticas

Optic ataxia as a model to investigate the role of the posterior parietal cortex in visually guided action: evidence from studies of patient M.H.

Cavina-Pratesi C, Connolly JD, Milner AD.

Front Hum Neurosci. 2013 Jul 16;7:336. doi: 10.3389/fnhum.2013.00336.

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients.

Müller Vom Hagen J, Synofzik M, Schicks J, Krägeloh-Mann I, Schöls L.

Mov Disord. 2013 Dec;28(14):2033-5. doi: 10.1002/mds.25617. No abstract available.

Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging.

Montella S, Mollica C, Finocchi A, Pession A, Pietrogrande MC, Trizzino A, Ranucci G, Maglione M, Giardino G, Salvatore M, Santamaria F, Pignata C.

J Clin Immunol. 2013 Oct;33(7):1185-91. doi: 10.1007/s10875-013-9933-y.

Optical coherence tomography findings in spinocerebellar ataxia-3.

Alvarez G, Rey A, Sanchez-Dalmau FB, Muñoz E, Ríos J, Adán A.

Eye (Lond). 2013 Dec;27(12):1376-81. doi: 10.1038/eye.2013.201.

Longitudinal study of cognitive and psychiatric functions in spinocerebellar ataxia types 1 and 2.

Fancellu R, Paridi D, Tomasello C, Panzeri M, Castaldo A, Genitrini S, Soliveri P, Girotti F.

J Neurol. 2013 Dec;260(12):3134-43.

Combination of BK channel opener and Kv4 channel inhibitor for treatment of cerebellar ataxia in mutant med mice.

Abbasi S, Abbasi A, Sarbaz Y.

J Neuropsychiatry Clin Neurosci. 2013 Fall;25(4):E41. doi: 10.1176/appi.neuropsych.12100251. No abstract available.

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.

Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia.

Friedman LS, Schadt KA, Regner SR, Mark GE, Lin KY, Sciascia T, St John Sutton M, Willi S, Lynch DR.

Int J Cardiol. 2013 Aug 20;167(4):1622-4. doi: 10.1016/j.ijcard.2012.04.159.

Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle.

Ching JK, Luebbert SH, Collins RL 4th, Zhang Z, Marupudi N, Banerjee S, Hurd RD, Ralston L, Fisher JS.

Exp Physiol. 2013 Feb;98(2):526-35. doi: 10.1113/expphysiol.2012.066357.

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).

Hübener J, Weber JJ, Richter C, Honold L, Weiss A, Murad F, Breuer P, Wüllner U, Bellstedt P, Paquet-Durand F, Takano J, Saido TC, Riess O, Nguyen HP.

Hum Mol Genet. 2013 Feb 1;22(3):508-18. doi: 10.1093/hmg/dds449.

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H.

Neurology. 2013 Feb 5;80(6):600-1. doi: 10.1212/WNL.0b013e3182815529. No abstract available. Erratum in: Neurology. 2013 Mar 26;80(13):1267.

The frequency of spinocerebellar ataxia type 23 in a UK population.

Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H.

J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Erratum in: J Neurol. 2013 Mar;260(3):860.

Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer patients.

Kim HS, Kim MA, Hodgson D, Harbron C, Wellings R, O'Connor MJ, Womack C, Yin X, Bang YJ, Im SA, Lee BL, Kim WH.

Pathobiology. 2013;80(3):127-37. doi: 10.1159/000346034.

[A rare complication of meningococcal meningitis: ataxia of thalamic origin].

Rada N, Draiss G, Elrharras S, Bourrous M, Bouskraoui M.

Arch Pediatr. 2013 Jan;20(1):90-1. doi: 10.1016/j.arcped.2012.10.006. French. No abstract available.

Ataxia telangiectasia mutated (ATM) is dispensable for endonuclease I-SceI-induced homologous recombination in mouse embryonic stem cells.

Rass E, Chandramouly G, Zha S, Alt FW, Xie A.

J Biol Chem. 2013 Mar 8;288(10):7086-95. doi: 10.1074/jbc.M112.445825.