Artículos por temáticas

Ataxia.

Kuo SH.

Continuum (Minneap Minn). 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753.

Cerebellar ataxia as a presenting symptom in a patient with anti-NMDA receptor encephalitis.

Poorthuis MHF, van Rooij JLM, Koch AH, Verdonkschot AEM, Leembruggen MM, Titulaer MJ.

Neurol Neuroimmunol Neuroinflamm. 2019 Jun 4;6(4):e579. doi: 10.1212/NXI.0000000000000579. eCollection 2019 Jul. No abstract available.

FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.

Mavioğlu RN, Kara B, Akansel G, Nalbant G, Tolun A.

Clin Genet. 2019 Jul 28. doi: 10.1111/cge.13612. [Epub ahead of print]

Exploring iron-binding to human frataxin and to selected Friedreich ataxia mutants by means of NMR and EPR spectroscopies.

Bellanda M, Maso L, Doni D, Bortolus M, De Rosa E, Lunardi F, Alfonsi A, Noguera ME, Herrera MG, Santos J, Carbonera D, Costantini P.

Biochim Biophys Acta Proteins Proteom. 2019 Nov;1867(11):140254. doi: 10.1016/j.bbapap.2019.07.007. Epub 2019 Jul 22.

Acute ataxia in children: Common causes and yield of diagnostic work-up in the era of varicella vaccination.

Segal E, Schif A, Kasis I, Ravid S.

J Clin Neurosci. 2019 Oct;68:146-150. doi: 10.1016/j.jocn.2019.07.008. Epub 2019 Jul 18.

Surgical Responses and Outcomes of Bilateral Medial Rectus Recession in Esotropia With Spinocerebellar Ataxia.

Chun BY, Freire MV, Cestari DM.

J Pediatr Ophthalmol Strabismus. 2019 Jul 1;56(4):266-270. doi: 10.3928/01913913-20190514-01.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Cabet S, Putoux A, Carneiro M, Labalme A, Sanlaville D, Guibaud L, Lesca G.

Eur J Med Genet. 2019 Oct;62(10):103726. doi: 10.1016/j.ejmg.2019.103726. Epub 2019 Jul 15.

Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.

Gottesfeld JM.

Neurotherapeutics. 2019 Jul 17. doi: 10.1007/s13311-019-00764-x. [Epub ahead of print] Review.

Metabolic Profiling Reveals Biochemical Pathways and Potential Biomarkers of Spinocerebellar Ataxia 3.

Yang ZH, Shi CH, Zhou LN, Li YS, Yang J, Liu YT, Mao CY, Luo HY, Xu GW, Xu YM.

Front Mol Neurosci. 2019 Jun 27;12:159. doi: 10.3389/fnmol.2019.00159. eCollection 2019.

New developments in pharmacotherapy for Friedreich ataxia.

Clay A, Hearle P, Schadt K, Lynch DR.

Expert Opin Pharmacother. 2019 Oct;20(15):1855-1867. doi: 10.1080/14656566.2019.1639671. Epub 2019 Jul 16.

Differential toxicity of ataxin-3 isoforms in Drosophila models of Spinocerebellar Ataxia Type 3.

Johnson SL, Blount JR, Libohova K, Ranxhi B, Paulson HL, Tsou WL, Todi SV.

Neurobiol Dis. 2019 Jul 13;132:104535. doi: 10.1016/j.nbd.2019.104535. [Epub ahead of print]

Dysarthria Profiles in Adults With Hereditary Ataxia.

Spencer KA, Dawson M.

Am J Speech Lang Pathol. 2019 Jul 15;28(2S):915-924. doi: 10.1044/2018_AJSLP-MSC18-18-0114. Epub 2019 Jul 15.

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.

Chen J, Sun Y, Liu X, Li J.

BMC Neurol. 2019 Jul 10;19(1):157. doi: 10.1186/s12883-019-1381-8.

Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells.

Wong AO, Wong G, Shen M, Chow MZ, Tse WW, Gurung B, Mak SY, Lieu DK, Costa KD, Chan CW, Martelli A, Nabhan JF, Li RA.

Stem Cell Res Ther. 2019 Jul 8;10(1):203. doi: 10.1186/s13287-019-1305-y.

Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects.

Ferreira AF, Raposo M, Vasconcelos J, Costa MDC, Lima M.

J Mol Neurosci. 2019 Jul 8. doi: 10.1007/s12031-019-01374-0. [Epub ahead of print]