Artículos por temáticas

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia.

Tojima M, Murakami G, Hikawa R, Yamakado H, Yamashita H, Takahashi R, Matsui M.

Neurol Genet. 2018 Oct 16;4(6):e283. doi: 10.1212/NXG.0000000000000283. eCollection 2018 Dec. No abstract available.

Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability.

Bowie E, Norris R, Anderson KV, Goetz SC.

PLoS Genet. 2018 Dec 10;14(12):e1007844. doi: 10.1371/journal.pgen.1007844. eCollection 2018 Dec.

Estimation of Skeletal Muscle Mass in Patients with Spinocerebellar Ataxia Type 3 and 10.

Santana Cruz MM, de Mesquita Barros Almeida Leite C, Schieferdecker MEM, Afonso Ghizoni Teive H, Dezen Vieira B, Moro A.

Int J Neurosci. 2018 Dec 7:1-12. doi: 10.1080/00207454.2018.1557167. [Epub ahead of print]

[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies].

Liptai Z.

Orv Hetil. 2018 Dec;159(49):2057-2064. doi: 10.1556/650.2018.31271. Hungarian.

Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1.

Driessen TM, Lee PJ, Lim J.

Elife. 2018 Dec 3;7. pii: e39981. doi: 10.7554/eLife.39981.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30.

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.

Legris N, Chassin O, Nasser G, Riant F, Tournier-Lasserve E, Denier C.

J Stroke Cerebrovasc Dis. 2018 Nov 28. pii: S1052-3057(18)30601-3. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. [Epub ahead of print]

Fragile X-associated tremor ataxia syndrome and cognitive impairment.

Singh D, Davis T.

Aust N Z J Psychiatry. 2018 Dec 2:4867418814942. doi: 10.1177/0004867418814942. [Epub ahead of print] No abstract available.

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F.

J Neurol. 2018 Dec 4. doi: 10.1007/s00415-018-9141-z. [Epub ahead of print]

DNA damage and repair in individuals with ataxia-telangiectasia and their parents.

Palazzo RP, Jardim LB, Bacellar A, de Oliveira FR, Maraslis FT, Pereira CHJ, da Silva J, Maluf SW.

Mutat Res. 2018 Dec;836(Pt B):122-126. doi: 10.1016/j.mrgentox.2018.06.007. Epub 2018 Jun 1.

Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

Egidi A, Filippi S, Manganello F, Lopez-Martinez W, Meschini R.

Mutat Res. 2018 Dec;836(Pt A):109-116. doi: 10.1016/j.mrgentox.2018.06.016. Epub 2018 Jun 15.

Ataxia Telangiectasia Mutated Protein Loss and Benefit From Oxaliplatin-based Chemotherapy in Colorectal Cancer.

Sundar R, Miranda S, Rodrigues DN, Chénard-Poirier M, Dolling D, Clarke M, Figueiredo I, Bertan C, Yuan W, Ferreira A, Chistova R, Boysen G, Perez DR, Tunariu N, Mateo J, Wotherspoon A, Chau I, Cunnin

Clin Colorectal Cancer. 2018 Dec;17(4):280-284. doi: 10.1016/j.clcc.2018.05.011. Epub 2018 Jun 8.

A Quantitative Study of Empty Baskets in Essential Tremor and Other Motor Neurodegenerative Diseases.

Lee PJ, Kerridge CA, Chatterjee D, Koeppen AH, Faust PL, Louis ED.

J Neuropathol Exp Neurol. 2018 Dec 26. doi: 10.1093/jnen/nly114. [Epub ahead of print]

Involvement of brain GABA(A)R-coupled Cl-/HCO(3)--ATPase in phenol-induced the head-twitching and tremor responses in rats.

Menzikov SA, Morozov SG.

Neurotoxicology. 2018 Dec 24. pii: S0161-813X(18)30452-2. doi: 10.1016/j.neuro.2018.12.007. [Epub ahead of print]

Cost-Effectiveness of Magnetic Resonance-Guided Focused Ultrasound for Essential Tremor.

Li C, Gajic-Veljanoski O, Schaink AK, Higgins C, Fasano A, Sikich N, Dhalla I, Ng V.

Mov Disord. 2018 Dec 27. doi: 10.1002/mds.27587. [Epub ahead of print]