Artículos por temáticas

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene.

Rana AQ, Khan OA, Akthar R.

Ann Indian Acad Neurol. 2013 Apr;16(2):269-71. doi: 10.4103/0972-2327.112495.

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.

Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA.

PLoS One. 2013 Sep 4;8(9):e74956. doi: 10.1371/journal.pone.0074956.

Acute confusion and ataxia in the emergency department with an unexpected underlying diagnosis.

Phiri T, Allain TJ, Dreyer G.

Malawi Med J. 2013 Jun;25(2):33-5. No abstract available.

Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Shakkottai VG, Fogel BL.

Neurol Clin. 2013 Nov;31(4):987-1007. doi: 10.1016/j.ncl.2013.04.006. Review.

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, et al.

PLoS One. 2013 Dec 2;8(12):e81884. doi: 10.1371/journal.pone.0081884.

Malignant pleural mesothelioma in a child with ataxia-telangiectasia.

Rosas-Salazar C, Gunawardena SW, Spahr JE.

Pediatr Pulmonol. 2013 Jan;48(1):94-7. doi: 10.1002/ppul.22535.

Syndrome of cerebellar ataxia, neuropathy and vestibular areflexia: diagnosis by caloric vestibular stimulation.

Crespo-Burillo JA, Hernando Quintana N, Fraile Rodrigo J, Gazulla J.

Neurologia. 2013 Nov-Dec;28(9):591-2. doi: 10.1016/j.nrl.2012.06.001. English, Spanish. No abstract available.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT.

Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231.

Thiamine and spinocerebellar ataxia type 2.

Costantini A, Pala MI, Colangeli M, Savelli S.

BMJ Case Rep. 2013 Jan 10;2013. pii: bcr2012007302. doi: 10.1136/bcr-2012-007302.

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

Worth PF, Srinivasan V, Smith A, Last JI, Wootton LL, Biggs PM, Davies NP, Carney EF, Byrd PJ, Taylor AM.

Mov Disord. 2013 Apr;28(4):524-8. doi: 10.1002/mds.25236.

Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Dibilio V, Cavalcanti F, Nicoletti A, Mostile G, Bruno E, Annesi G, Tarantino P, Gagliardi M, Gambardella A, Quattrone A, Zappia M.

Cerebellum. 2013 Aug;12(4):589-92. doi: 10.1007/s12311-013-0451-5. No abstract available.

Marked improvement in opsoclonus and cerebellar ataxia after the surgical removal of a squamous cell carcinoma of the thymus: a case report.

Yamaguchi Y, Wada M, Tanji H, Kurokawa K, Kawanami T, Ohtake H, Kato T.

J Neurol Sci. 2013 Feb 15;325(1-2):156-9. doi: 10.1016/j.jns.2012.11.011.

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

Bandiera S, Cartault F, Jannot AS, Hatem E, Girard M, Rifai L, Loiseau C, Munnich A, Lyonnet S, Henrion-Caude A.

PLoS One. 2013;8(1):e54791. doi: 10.1371/journal.pone.0054791.

MicroRNA-18a attenuates DNA damage repair through suppressing the expression of ataxia telangiectasia mutated in colorectal cancer.

Wu CW, Dong YJ, Liang QY, He XQ, Ng SS, Chan FK, Sung JJ, Yu J.

PLoS One. 2013;8(2):e57036. doi: 10.1371/journal.pone.0057036.

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS.

J Neurol. 2013 Jul;260(7):1807-12. doi: 10.1007/s00415-013-6882-6.