Artículos por temáticas

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH.

Am J Hum Genet. 2016 Jun 2;98(6):1146-58. doi: 10.1016/j.ajhg.2016.04.009.

Riluzole in patients with hereditary cerebellar ataxia.

Brandsma R, Kremer HP, Sival DA.

Lancet Neurol. 2016 Jul;15(8):788. doi: 10.1016/S1474-4422(16)00131-9. No abstract available.

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271.

Marthaler AG, Tubsuwan A, Schmid B, Poulsen UB, Hyttel P, Nielsen JE, Nielsen TT, Holst B.

Stem Cell Res. 2016 Jan;16(1):159-61. doi: 10.1016/j.scr.2015.12.027.

Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.

Hessl D, Grigsby J.

Clin Neuropsychol. 2016 Aug;30(6):810-4. doi: 10.1080/13854046.2016.1186661.

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.

Gerhardt J, Bhalla AD, Butler JS, Puckett JW, Dervan PB, Rosenwaks Z, Napierala M.

Cell Rep. 2016 Aug 2;16(5):1218-27. doi: 10.1016/j.celrep.2016.06.075.

Variable sensory nerve conduction parameters in late onset Friedreich ataxia.

Alix JJ, Alam T, Garrard K, Martindale J, Shanmugarajah P, Ganesh Rao D, Hadjivassiliou M.

Muscle Nerve. 2016 Aug 4. doi: 10.1002/mus.25363. [Epub ahead of print] No abstract available.

ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.

Li PP, Sun X, Xia G, Arbez N, Paul S, Zhu S, Peng HB, Ross CA, Koeppen AH, Margolis RL, Pulst SM, Ashizawa T, Rudnicki DD.

Ann Neurol. 2016 Oct;80(4):600-15. doi: 10.1002/ana.24761.

Psychometric properties of a core set of measures of balance for people with cerebellar ataxia secondary to multiple sclerosis.

Winser S, Smith CM, Hale LA, Claydon LS, Whitney SL, Klatt B, Mottershead J, Zaydan I, Heyman R.

Arch Phys Med Rehabil. 2016 Aug 27. pii: S0003-9993(16)30899-1. doi: 10.1016/j.apmr.2016.07.023. [Epub ahead of print]

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP.

Proc Natl Acad Sci U S A. 2016 Oct 4;113(40):11289-11293.

A longitudinal study of the SF-36 version 2 in Friedreich ataxia.

Tai G, Corben LA, Yiu EM, Delatycki MB.

Acta Neurol Scand. 2016 Sep 28. doi: 10.1111/ane.12693. [Epub ahead of print]

Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.

Teive HA, Moro A, Arruda WO, Raskin S, Teive GM, Dalabrida N, Munhoz RP.

Arq Neuropsiquiatr. 2016 Oct;74(10):858-860. doi: 10.1590/0004-282X20160125.

A novel CABC1/ADCK3 mutation in adult-onset cerebellar ataxia.

Malgireddy K, Thompson R, Torres-Russotto D.

Parkinsonism Relat Disord. 2016 Dec;33:151-152. doi: 10.1016/j.parkreldis.2016.10.010. No abstract available.

Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Nakamura K, Yoshida K, Matsushima A, Shimizu Y, Sato S, Yahikozawa H, Ohara S, Yazawa M, Ushiyama M, Sato M, Morita H, Inoue A, Ikeda SI.

Cerebellum. 2016 Nov 9. [Epub ahead of print]

Cognitive dysfunction in patients with spinocerebellar ataxia type 6.

Tamura I, Takei A, Hamada S, Nonaka M, Kurosaki Y, Moriwaka F.

J Neurol. 2016 Nov 22. [Epub ahead of print]

Late Presentation of Ataxia, Areflexia, and Electrophysiological Abnormalities as Part of Miller Fisher Syndrome: Case Report.

Somer D, Yilmaz A, Tiras Teber S, Cinar FG.

Neuroophthalmology. 2016 Jun 8;40(4):197-200.