Artículos por temáticas

Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado-Joseph disease.

Hou X, Gong X, Zhang L, Li T, Yuan H, Xie Y, Peng Y, Qiu R, Xia K, Tang B, Jiang H.

Epigenomics. 2019 May 30. doi: 10.2217/epi-2019-0081. [Epub ahead of print]

[Recurrent ataxia and respiratory failure with probable paraneoplastic syndrome responsive to plasma exchange therapy].

Kondo T, Igari R, Sato H, Iseki C, Ishizawa K, Suzuki K.

Rinsho Shinkeigaku. 2019 May 29. doi: 10.5692/clinicalneurol.cn-001234. [Epub ahead of print] Japanese.

The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).

Fay-Karmon T, Hassin-Baer S.

Parkinsonism Relat Disord. 2019 May 7. pii: S1353-8020(19)30231-7. doi: 10.1016/j.parkreldis.2019.05.010. [Epub ahead of print] Review.

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM.

Parkinsonism Relat Disord. 2019 May 14. pii: S1353-8020(19)30222-6. doi: 10.1016/j.parkreldis.2019.05.001. [Epub ahead of print]

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3.

Xu HL, Su QN, Shang XJ, Sikandar A, Lin MT, Wang N, Lin H, Gan SR.

Mol Genet Genomic Med. 2019 May 23:e719. doi: 10.1002/mgg3.719. [Epub ahead of print]

Transcranial direct current stimulation in the treatment of cerebellar ataxia: A two-phase, double-blind, auto-matched, pilot study.

Barretto TL, Bandeira ID, Jagersbacher JG, Barretto BL, de Oliveira E Torres ÂFS, Peña N, Miranda JGV, Lucena R.

Clin Neurol Neurosurg. 2019 May 14;182:123-129. doi: 10.1016/j.clineuro.2019.05.009. [Epub ahead of print]

Tag-Team Genetics of Spinocerebellar Ataxia 6.

Govek EE, Hatten ME.

Neuron. 2019 May 22;102(4):707-709. doi: 10.1016/j.neuron.2019.04.041.

Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.

Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K.

Cerebellum. 2019 May 20. doi: 10.1007/s12311-019-01036-2. [Epub ahead of print]

Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38.

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

PLoS One. 2019 May 20;14(5):e0216668. doi: 10.1371/journal.pone.0216668. eCollection 2019.

Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.

Ozaki K, Ansai A, Nobuhara K, Araki T, Kubodera T, Ishii T, Higashi M, Sato N, Soga K, Mizusawa H, Ishikawa K, Yokota T.

Parkinsonism Relat Disord. 2019 May 13. pii: S1353-8020(19)30241-X. doi: 10.1016/j.parkreldis.2019.05.019. [Epub ahead of print]

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Kim A, Kumar KR, Davis RL, Mallawaarachchi AC, Gayevskiy V, Minoche AE, Walls Z, Kim HJ, Jang M, Cowley MJ, Choi JH, Shin C, Sue CM, Jeon B.

Cerebellum. 2019 May 18. doi: 10.1007/s12311-019-01038-0. [Epub ahead of print]

Spinocerebellar ataxia type 8: First families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ.

Neurologia. 2019 May 15. pii: S0213-4853(19)30050-7. doi: 10.1016/j.nrl.2019.01.004. [Epub ahead of print] English, Spanish.

Interleukin 6-triggered ataxia-telangiectasia mutated kinase activation facilitates epithelial-to-mesenchymal transition in lung cancer by upregulating vimentin expression.

Jiang YN, Ni XY, Yan HQ, Shi L, Lu NN, Wang YN, Li Q, Gao FG.

Exp Cell Res. 2019 May 14. pii: S0014-4827(19)30252-6. doi: 10.1016/j.yexcr.2019.05.011. [Epub ahead of print]

Advance Care Plan and Factors Related to Disease Progression in Patients With Spinocerebellar Ataxia Type 1: A Cross-Sectional Study in Thailand

Gomutbutra P, Brandeland M.

Am J Hosp Palliat Care. 2020 Jan;37(1):46-51. doi: 10.1177/1049909119850797. Epub 2019 May 14.

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia.

Letko A, Dietschi E, Nieburg M, Jagannathan V, Gurtner C, Oevermann A, Drögemüller C.

Genes (Basel). 2019 May 10;10(5). pii: E362. doi: 10.3390/genes10050362.