Artículos por temáticas

Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.

Evers MM, Toonen LJ, van Roon-Mom WM.

Mol Neurobiol. 2014 Jun;49(3):1513-31. doi: 10.1007/s12035-013-8596-2. Review.

Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.

Mascalchi M, Diciotti S, Giannelli M, Ginestroni A, Soricelli A, Nicolai E, Aiello M, Tessa C, Galli L, Dotti MT, Piacentini S, Salvatore E, Toschi N.

PLoS One. 2014 Feb 25;9(2):e89410. doi: 10.1371/journal.pone.0089410.

Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.

Solbach K, Kraff O, Minnerop M, Beck A, Schöls L, Gizewski ER, Ladd ME, Timmann D.

Neuroimage Clin. 2014 Aug 23;6:93-9. doi: 10.1016/j.nicl.2014.08.018.

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations.

Cordoba M, Rodriguez-Quiroga S, Gatto EM, Alurralde A, Kauffman MA.

Neurology. 2014 Jul 15;83(3):287-8. doi: 10.1212/WNL.0000000000000600. No abstract available.

Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells.

Lee YK, Ho PW, Schick R, Lau YM, Lai WH, Zhou T, Li Y, Ng KM, Ho SL, Esteban MA, Binah O, Tse HF, Siu CW.

Pflugers Arch. 2014 Sep;466(9):1831-44. doi: 10.1007/s00424-013-1414-x.

Increased catabolic state in spinocerebellar ataxia type 1 patients.

Mähler A, Steiniger J, Endres M, Paul F, Boschmann M, Doss S.

Cerebellum. 2014 Aug;13(4):440-6. doi: 10.1007/s12311-014-0555-6.

A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.

Qian Y, Wang H, Jin T, Wang Y, Fang L, Chen Y, Chen L.

Mol Med Rep. 2014 Sep;10(3):1423-5. doi: 10.3892/mmr.2014.2342.

Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

Sharma NK, Lebedeva M, Thomas T, Kovalenko OA, Stumpf JD, Shadel GS, Santos JH.

DNA Repair (Amst). 2014 Jan;13:22-31. doi: 10.1016/j.dnarep.2013.11.002.

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.

Myers KA, Warman Chardon J, Huang L, Boycott KM.

Am J Med Genet A. 2014 Dec;164A(12):3209-12. doi: 10.1002/ajmg.a.36771. No abstract available.

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

Barros J, Ruano L, Domingos J, Tuna A, Damásio J, Alonso I, Silveira I, Sequeiros J, Coutinho P.

Headache. 2014 May;54(5):911-5. doi: 10.1111/head.12260.

Olfactory performance in spinocerebellar ataxia type 7 patients.

Galvez V, Diaz R, Hernandez-Castillo CR, Campos-Romo A, Fernandez-Ruiz J.

Parkinsonism Relat Disord. 2014 May;20(5):499-502. doi: 10.1016/j.parkreldis.2014.01.024.

Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability.

Fukawatase Y, Toyoda M, Okamura K, Nakamura K, Nakabayashi K, Takada S, Yamazaki-Inoue M, Masuda A, Nasu M, Hata K, Hanaoka K, Higuchi A, Takubo K, Umezawa A.

Sci Rep. 2014 Jun 27;4:5421. doi: 10.1038/srep05421.

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F.

Brain. 2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339.

Opsoclonus-myoclonus-ataxia syndrome associated with dengue virus infection.

Tan AH, Linn K, Ramli NM, Hlaing CS, Aye AM, Sam IC, Ng CG, Goh KJ, Tan CT, Lim SY.

Parkinsonism Relat Disord. 2014 Nov;20(11):1309-10. doi: 10.1016/j.parkreldis.2014.09.002. No abstract available.

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.

Heidari MM, Khatami M, Pourakrami J.

Iran J Child Neurol. 2014 Winter;8(1):32-6.