Artículos por temáticas

RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication.

Neil AJ, Liang MU, Khristich AN, Shah KA, Mirkin SM.

Nucleic Acids Res. 2018 Feb 13. doi: 10.1093/nar/gky099. [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.

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.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. No abstract available.

Clinical Reasoning: A 35-year-old woman with diplopia, ataxia, and altered mental status.

Bauer Z, Eum KS, Ji J, Bunin J, Sherratt J.

Neurology. 2018 Nov 13;91(20):e1942-e1946. doi: 10.1212/WNL.0000000000006499. No abstract available.

A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.

Qiu Y, Zhong S, Cong L, Xin L, Gao X, Zhang J, Hong D.

Ann Clin Transl Neurol. 2018 Sep 17;5(11):1415-1420. doi: 10.1002/acn3.650. eCollection 2018 Nov.

Calcium Deregulation: Novel Insights to Understand Friedreich's Ataxia Pathophysiology.

Abeti R, Brown AF, Maiolino M, Patel S, Giunti P.

Front Cell Neurosci. 2018 Oct 2;12:264. doi: 10.3389/fncel.2018.00264. eCollection 2018.

Lysosomal dysfunction and early glial activation are involved in the pathogenesis of spinocerebellar ataxia type 21 caused by mutant transmembrane protein 240.

Seki T, Sato M, Kibe Y, Ohta T, Oshima M, Konno A, Hirai H, Kurauchi Y, Hisatsune A, Katsuki H.

Neurobiol Dis. 2018 Sep 2;120:34-50. doi: 10.1016/j.nbd.2018.08.022. [Epub ahead of print]

Motor and cognitive impairments in spinocerebellar ataxia type 7 and its correlations with cortical volumes.

Chirino A, Hernandez-Castillo CR, Galvez V, Contreras A, Diaz R, Beltran-Parrazal L, Fernandez-Ruiz J.

Eur J Neurosci. 2018 Sep 26. doi: 10.1111/ejn.14148. [Epub ahead of print]

Autoimmune septin-5 cerebellar ataxia.

Honorat JA, Lopez-Chiriboga AS, Kryzer TJ, Fryer JP, Devine M, Flores A, Lennon VA, Pittock SJ, McKeon A.

Neurol Neuroimmunol Neuroinflamm. 2018 Jul 9;5(5):e474. doi: 10.1212/NXI.0000000000000474. eCollection 2018 Sep.

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR.

Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.

[Identification of compound heterozygous mutations of SACS gene in two patients from a pedigree with spastic ataxia of Charlevoix-Saguenay].

Li S, Chen Y, Yuan X, Wei Q, Ou R, Gu X, Shang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Aug 10;35(4):507-510. doi: 10.3760/cma.j.issn.1003-9406.2018.04.010. Chinese.

Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich's ataxia.

Roche B, Simon AL, Guilmin-Crépon S, Boizeau P, Andriss B, Alberti C, Presedo A, Ilharreborde B, Husson I.

Gait Posture. 2018 Aug 20;66:45-50. doi: 10.1016/j.gaitpost.2018.08.017. [Epub ahead of print]

Episodic ataxia type 2 characterized by recurrent dizziness/vertigo: a report of four cases.

Ling X, Zhao DH, Zhao J, Shen B, Yang X.

Int J Neurosci. 2018 Jun 8:1-18. doi: 10.1080/00207454.2018.1486829. [Epub ahead of print]

Fragile X-Associated Tremor/Ataxia Syndrome: Unmet Needs and a Path for the Future.

Hall DA, Hagerman RJ.

Front Genet. 2018 Jun 7;9:100. doi: 10.3389/fgene.2018.00100. eCollection 2018. No abstract available.