Artículos por temáticas

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Duquette A, Brais B, Bouchard JP, Mathieu J.

Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA.

JAMA Neurol. 2013 Oct;70(10):1296-31.

Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.

Teive HA, Ashizawa T.

Curr Neurol Neurosci Rep. 2013 Nov;13(11):393. doi: 10.1007/s11910-013-0393-9. No abstract available.

Hot cross bun sign in a patient with cerebellar ataxia.

Gooneratne IK, Caldera MC, Perera SP, Gamage R.

Ann Indian Acad Neurol. 2013 Jul;16(3):406. doi: 10.4103/0972-2327.116973. No abstract available.

Clinical neurogenetics: friedreich ataxia.

Collins A.

Neurol Clin. 2013 Nov;31(4):1095-120. doi: 10.1016/j.ncl.2013.05.002. Review.

Early onset of ataxia in moonwalker mice is accompanied by complete ablation of type II unipolar brush cells and Purkinje cell dysfunction.

Sekerková G, Kim JA, Nigro MJ, Becker EB, Hartmann J, Birnbaumer L, Mugnaini E, Martina M.

J Neurosci. 2013 Dec 11;33(50):19689-94. doi: 10.1523/JNEUROSCI.2294-13.2013.

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family.

Li M, Pang SY, Song Y, Kung MH, Ho SL, Sham PC.

Clin Genet. 2013 Mar;83(3):269-73. doi: 10.1111/j.1399-0004.2012.01895.x.

Safety and efficacy of umbilical cord mesenchymal stem cell therapy in hereditary spinocerebellar ataxia.

Jin JL, Liu Z, Lu ZJ, Guan DN, Wang C, Chen ZB, Zhang J, Zhang WY, Wu JY, Xu Y.

Curr Neurovasc Res. 2013 Feb;10(1):11-20.

Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.

Vaubel RA, Isaya G.

Mol Cell Neurosci. 2013 Jul;55:50-61. doi: 10.1016/j.mcn.2012.08.003. Review.

A 70-year-old man with dementia and ataxia.

Kumar N, Goyal J, Curry WA.

Geriatr Gerontol Int. 2013 Jan;13(1):229-30. doi: 10.1111/j.1447-0594.2012.00921.x. No abstract available.

Progressive sensorineural hearing loss, ataxia and anosmia as manifestation of superficial siderosis in post traumatic brain injury.

Vadalà R, Giugni E, Pezzella FR, Sabatini U, Bastianello S.

Neurol Sci. 2013 Jul;34(7):1259-62. doi: 10.1007/s10072-012-1208-5. No abstract available.

Harry Lee Parker and paroxysmal dysarthria and ataxia.

Klaas JP, Burkholder DB, Singer W, Boes CJ.

Neurology. 2013 Jan 15;80(3):311-4. doi: 10.1212/WNL.0b013e31827dec0f.

Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.

Yüce Ö, West SC.

Mol Cell Biol. 2013 Jan;33(2):406-17. doi: 10.1128/MCB.01195-12.

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.

Choi KD, Yook JW, Kim MJ, Kim HS, Park YE, Kim JS, Choi JH, Shin JH, Kim DS.

Neurol Sci. 2013 Sep;34(9):1629-32. doi: 10.1007/s10072-013-1298-8.

Tonic modulatory role of mouse cerebellar α- and β-adrenergic receptors in the expression of ethanol-induced ataxia: role of AC-cAMP.

Dar MS, Al-Rejaie S.

Behav Brain Res. 2013 Mar 15;241:154-60. doi: 10.1016/j.bbr.2012.12.006.