Artículos por temáticas

Progression of microstructural damage in spinocerebellar ataxia type 2: a longitudinal DTI study.

Mascalchi M, Toschi N, Giannelli M, Ginestroni A, Della Nave R, Nicolai E, Bianchi A, Tessa C, Salvatore E, Aiello M, Soricelli A, Diciotti S.

AJNR Am J Neuroradiol. 2015 Jun;36(6):1096-101. doi: 10.3174/ajnr.A4343.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.

Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.

J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y.

Spinocerebellar ataxia type 7: a neurodegenerative disorder with peripheral neuropathy.

Salas-Vargas J, Mancera-Gervacio J, Velázquez-Pérez L, Rodrígez-Labrada R, Martínez-Cruz E, Magaña JJ, Durand-Rivera A, Hernández-Hernández O, Cisneros B, Gonzalez-Piña R.

Eur Neurol. 2015;73(3-4):173-8. doi: 10.1159/000370239.

Change in the cortical complexity of spinocerebellar ataxia type 3 appears earlier than clinical symptoms.

Wang TY, Jao CW, Soong BW, Wu HM, Shyu KK, Wang PS, Wu YT.

PLoS One. 2015 Apr 21;10(4):e0118828. doi: 10.1371/journal.pone.0118828.

Opsoclonus-myoclonus-ataxia syndrome associated with dengue virus infection.

Tan AH, Linn K, Sam IC, Tan CT, Lim SY.

Parkinsonism Relat Disord. 2015 Feb;21(2):160-1. doi: 10.1016/j.parkreldis.2014.11.009. No abstract available.

Convulsion and cerebellar ataxia associated with maternally inherited diabetes and deafness: a case report.

Imamura T, Konno S, Inoue M, Murata M, Nakazora H, Sugimoto H, Fujioka T.

Clin Case Rep. 2015 Jul;3(7):656-9. doi: 10.1002/ccr3.309.

[Study of a family from Yunnan with five generations and eight individuals affected with spinocerebellar ataxia].

Zhang L, Yang D, Li H, Zhu Y, Liang L, Chen T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):141-3. doi: 10.3760/cma.j.issn.1003-9406.2015.01.037. Chinese. No abstract available.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

Jazayeri R, Hu H, Fattahi Z, Musante L, Abedini SS, Hosseini M, Wienker TF, Ropers HH, Najmabadi H, Kahrizi K.

Arch Iran Med. 2015 Oct;18(10):670-82. doi: 0151810/AIM.007.

Presenile onset of spinocerebellar ataxia type 1 presenting with conspicuous psychiatric symptoms and widespread anti-expanded polyglutamine antibody- and fused in sarcoma antibody-immunopositive pathology.

Iwasaki Y, Mori K, Ito M, Mimuro M, Yoshida M.

Psychogeriatrics. 2015 Sep;15(3):212-7. doi: 10.1111/psyg.12122.

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanak

J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Review.

Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain.

Wang K, Xu R, Schrandt J, Shah P, Gong YZ, Preston C, Wang L, Yi JK, Lin CL, Sun W, Spyropoulos DD, Rhee S, Li M, Zhou J, Ge S, Zhang G, Snider AJ, Hannun YA, Obeid LM, Mao C.

PLoS Genet. 2015 Oct 16;11(10):e1005591. doi: 10.1371/journal.pgen.1005591.

The role of epigenomics in the neurodegeneration of ataxia-telangiectasia.

Li J, Jiang D.

Epigenomics. 2015;7(2):137-41. doi: 10.2217/epi.14.81. Review. No abstract available.

Tumor suppressor ataxia telangiectasia mutated functions downstream of TGF-β1 in orchestrating profibrotic responses.

Overstreet JM, Samarakoon R, Cardona-Grau D, Goldschmeding R, Higgins PJ.

FASEB J. 2015 Apr;29(4):1258-68. doi: 10.1096/fj.14-262527.

Milestones in Friedreich ataxia: more than a century and still learning.

Abrahão A, Pedroso JL, Braga-Neto P, Bor-Seng-Shu E, de Carvalho Aguiar P, Barsottini OG.

Neurogenetics. 2015 Jul;16(3):151-60. doi: 10.1007/s10048-015-0439-z. Review.

DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.

Tsou WL, Hosking RR, Burr AA, Sutton JR, Ouyang M, Du X, Gomez CM, Todi SV.

Hum Mol Genet. 2015 Aug 1;24(15):4385-96. doi: 10.1093/hmg/ddv174.