Artículos por temáticas

Chromatin modifying protein 1A (Chmp1A) of the endosomal sorting complex required for transport (ESCRT)-III family activates ataxia telangiectasia mutated (ATM) for PanC-1 cell growth inhibition.

Manohar S, Harlow M, Nguyen H, Li J, Hankins GR, Park M.

Cell Cycle. 2011 Aug 1;10(15):2529-39.

Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice.

Kumar R, Hunt CR, Gupta A, Nannepaga S, Pandita RK, Shay JW, Bachoo R, Ludwig T, Burns DK, Pandita TK.

Proc Natl Acad Sci U S A. 2011 Mar 1;108(9):3636-41. doi: 10.1073/pnas.1016524108.

Ataxia and the cerebellum.

Bonthius DJ.

Semin Pediatr Neurol. 2011 Jun;18(2):69-71. doi: 10.1016/j.spen.2011.05.001.

Genotyping and prenatal diagnosis of a large spinocerebellar ataxia pedigree in northeastern China.

Cao DH, Liu XL, Qiu GB.

J Genet. 2011 Aug;90(2):369-72. No abstract available.

Ataxia telangiectasia: the consequences of a delayed diagnosis.

Mandigers CM, van de Warrenburg BP, Strobbe LJ, Kluijt I, Molenaar AH, Schinagl DA.

Radiother Oncol. 2011 Apr;99(1):97-8. doi: 10.1016/j.radonc.2011.02.007. No abstract available.

Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations.

Kumar N, Eggers SD, Milone M, Keegan BM.

Parkinsonism Relat Disord. 2011 Aug;17(7):565-8. doi: 10.1016/j.parkreldis.2011.04.018.

Hepatic mitochondrial dysfunction in Friedreich ataxia.

Stüwe SH, Goetze O, Arning L, Banasch M, Schmidt WE, Schöls L, Saft C.

BMC Neurol. 2011 Nov 15;11:145. doi: 10.1186/1471-2377-11-145.

[IOSCA - Infantile onset spinocerebellar ataxia].

Lönnqvist T.

Duodecim. 2011;127(14):1460-9. Review. Finnish.

Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development.

Payne RM, Pride PM, Babbey CM.

Pediatr Cardiol. 2011 Mar;32(3):366-78. doi: 10.1007/s00246-011-9943-6.

SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome.

Braga-Neto P, Pedroso JL, Felício AC, Abrahão A, Dutra LA, Bezerra ML, Barsottini OG.

Arq Neuropsiquiatr. 2011;69(2B):405-6. No abstract available.

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells.

Coufal NG, Garcia-Perez JL, Peng GE, Marchetto MC, Muotri AR, Mu Y, Carson CT, Macia A, Moran JV, Gage FH.

Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20382-7. doi: 10.1073/pnas.1100273108.

The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity?

Corben LA, Georgiou-Karistianis N, Bradshaw JL, Hocking DR, Churchyard AJ, Delatycki MB.

Neuroscience. 2011 Sep 29;192:382-90. doi: 10.1016/j.neuroscience.2011.06.057.

Investigation of tRNA and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients.

Houshmand M, Kasraie S, Etemad Ahari S, Moin M, Bahar M, Zamani A.

Arch Med Sci. 2011 Jun;7(3):523-7. doi: 10.5114/aoms.2011.23424.

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.

Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, Donti E, Brusco A, Calabresi P, Tambasco N.

Eur J Neurol. 2011 Oct;18(10):1263-5. doi: 10.1111/j.1468-1331.2011.03366.x.

Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.

Sarac H, Henigsberg N, Markeljević J, Pavlisa G, Hof PR, Simić G.

Coll Antropol. 2011 Jan;35 Suppl 1:327-32.