Artículos por temáticas

Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia.

Becker EB, Zuliani L, Pettingill R, Lang B, Waters P, Dulneva A, Sobott F, Wardle M, Graus F, Bataller L, Robertson NP, Vincent A.

J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):437-40. doi: 10.1136/jnnp-2011-301506.

Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase.

Wagner GR, Pride PM, Babbey CM, Payne RM.

Hum Mol Genet. 2012 Jun 15;21(12):2688-97. doi: 10.1093/hmg/dds095.

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.

Tomassini B, Arcuri G, Fortuni S, Sandi C, Ezzatizadeh V, Casali C, Condò I, Malisan F, Al-Mahdawi S, Pook M, Testi R.

Hum Mol Genet. 2012 Jul 1;21(13):2855-61. doi: 10.1093/hmg/dds110.

Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts.

Richardson TE, Yu AE, Wen Y, Yang SH, Simpkins JW.

PLoS One. 2012;7(4):e34600. doi: 10.1371/journal.pone.0034600.

Preliminary study of intravenous amantadine treatment for ataxia management in patients with probable multiple system atrophy with predominant cerebellar ataxia.

Youn J, Shin H, Kim JS, Cho JW.

J Mov Disord. 2012 May;5(1):1-4. doi: 10.14802/jmd.12001.

Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.

Krysa W, Rajkiewicz M, Sułek A.

Neurol Neurochir Pol. 2012 Mar-Apr;46(2):113-20.

Longitudinal change in dysarthria associated with Friedreich ataxia: a potential clinical endpoint.

Rosen KM, Folker JE, Vogel AP, Corben LA, Murdoch BE, Delatycki MB.

J Neurol. 2012 Nov;259(11):2471-7. doi: 10.1007/s00415-012-6547-x.

Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects.

Schadt KA, Friedman LS, Regner SR, Mark GE, Lynch DR, Lin KY.

J Child Neurol. 2012 Sep;27(9):1187-92. doi: 10.1177/0883073812448461.

Adult-onset spinocerebellar ataxia due to MTATP6 mutations: are they more common than previously thought?

Pulkes T.

J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):857-8. doi: 10.1136/jnnp-2012-302959. No abstract available.

Childhood ataxia: clinical features, pathogenesis, key unanswered questions, and future directions.

Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.

J Child Neurol. 2012 Sep;27(9):1095-120. doi: 10.1177/0883073812448840.

A review of Friedreich ataxia clinical trial results.

Perlman SL.

J Child Neurol. 2012 Sep;27(9):1217-22. doi: 10.1177/0883073812453872. Review.

Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population.

Liu YT, Tang BS, Wang JL, Guan WJ, Shen L, Shi YT, Zhou Y, Yan XX, Xia K, Jiang H.

Neurosci Lett. 2012 Oct 18;528(1):51-4. doi: 10.1016/j.neulet.2012.08.062.

Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.

Menotta M, Biagiotti S, Bianchi M, Chessa L, Magnani M.

J Biol Chem. 2012 Nov 30;287(49):41352-63. doi: 10.1074/jbc.M112.344473.

Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia.

Karaca S, Tan M, Tan U.

Front Neurol. 2012 Oct 25;3:154. doi: 10.3389/fneur.2012.00154.

Inactivation of the parietal reach region causes optic ataxia, impairing reaches but not saccades.

Hwang EJ, Hauschild M, Wilke M, Andersen RA.

Neuron. 2012 Dec 6;76(5):1021-9. doi: 10.1016/j.neuron.2012.10.030.