Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice.

Toonen LJA, Rigo F, van Attikum H, van Roon-Mom WMC.

Mol Ther Nucleic Acids. 2017 Sep 15;8:232-242. doi: 10.1016/j.omtn.2017.06.019. Epub 2017 Jun 29.

Clinical Reasoning: Reversible gait ataxia: From wheelchair to independent mobility.

Abkur TM, Bede P.

Neurology. 2017 Apr 11;88(15):e145-e149. doi: 10.1212/WNL.0000000000003815. No abstract available.

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).

Maarouf H, Taboada M, Rodriguez H, Arias M, Sesar Á, Sobrido MJ.

BMC Med Inform Decis Mak. 2017 Dec 6;17(1):159. doi: 10.1186/s12911-017-0568-4.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.

Spinocerebellar ataxia: a critical review of cognitive and socio-cognitive deficits.

Giocondo F, Curcio G.

Int J Neurosci. 2017 Sep 22:1-10. doi: 10.1080/00207454.2017.1377198. [Epub ahead of print]

[Complete heart block and asystole in a child with ataxia-telangiectasia].

Palanca Arias D, Ayerza Casas A, Domínguez Cajal M, López Ramón M, Jiménez Montañés L.

Arch Argent Pediatr. 2017 Oct 1;115(5):e291-e293. doi: 10.5546/aap.2017.e291. Spanish.

Comparison of imaging using (11)C-ITMM and (18)F-FDG for the detection of cerebellar ataxia.

Ishibashi K, Miura Y, Toyohara J, Ishii K, Ishiwata K.

J Neurol Sci. 2017 Apr 15;375:97-102. doi: 10.1016/j.jns.2017.01.036. Epub 2017 Jan 12.

Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction.

Jia L, Zhang W, Ma Y, Chen B, Liu Y, Piao C, Wang Y, Yang M, Liu T, Zhang J, Li T, Nie S, Du J.

J Am Heart Assoc. 2017 Jul 19;6(7). pii: e006349. doi: 10.1161/JAHA.117.006349.

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.

Rocca CJ, Goodman SM, Dulin JN, Haquang JH, Gertsman I, Blondelle J, Smith JLM, Heyser CJ, Cherqui S.

Sci Transl Med. 2017 Oct 25;9(413). pii: eaaj2347. doi: 10.1126/scitranslmed.aaj2347.

Sequence configuration of spinocerebellar ataxia type 8 repeat expansions in a Japanese cohort of 797 ataxia subjects.

Hu Y, Hashimoto Y, Ishii T, Rayle M, Soga K, Sato N, Okita M, Higashi M, Ozaki K, Mizusawa H, Ishikawa K, Yokota T.

J Neurol Sci. 2017 Nov 15;382:87-90. doi: 10.1016/j.jns.2017.08.3256. Epub 2017 Aug 31.

Otoneurological Abnormalities in Patients with Friedreich's Ataxia.

Zeigelboim BS, Mesti JC, Fonseca VR, Faryniuk JH, Marques JM, Cardoso RC, Teive HA.

Int Arch Otorhinolaryngol. 2017 Jan;21(1):79-85. doi: 10.1055/s-0036-1572529.

Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.

Akturk H, Sutcu M, Somer A, Piskin S, Acar M, Ozmen M, Altinoglu U, Tatli B, Salman N.

World J Pediatr. 2017 Jan 25. doi: 10.1007/s12519-017-0011-z. [Epub ahead of print]

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sintas C, Carreño O, Fernàndez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A, Cormand B.

Sci Rep. 2017 May 31;7(1):2514. doi: 10.1038/s41598-017-02554-x.

Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.

Rondon-Melo S, de Almeida IJ, Andrade CRF, Sassi FC, Molini-Avejonas DR.

Am J Case Rep. 2017 Jul 12;18:783-789.

The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population.

Plehn JF, Hasbani K, Ernst I, Horton KD, Drinkard BE, Di Prospero NA.

J Card Fail. 2017 Oct 3. pii: S1071-9164(17)31221-6. doi: 10.1016/j.cardfail.2017.09.012. [Epub ahead of print]