Artículos por temáticas

Letter by Peverill regarding article, The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.

Peverill RE.

Circulation. 2012 Oct 23;126(17):e272. doi: 10.1161/CIRCULATIONAHA.112.115287. No abstract available.

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.

Ezzatizadeh V, Pinto RM, Sandi C, Sandi M, Al-Mahdawi S, Te Riele H, Pook MA.

Neurobiol Dis. 2012 Apr;46(1):165-71. doi: 10.1016/j.nbd.2012.01.002.

Sleep benefit in a case of episodic ataxia.

Nagappa M, Mundlamuri RC, Satishchandra P, Pal PK.

Parkinsonism Relat Disord. 2012 Jun;18(5):662-3. doi: 10.1016/j.parkreldis.2011.09.018. No abstract available.

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.

Martelli A, Friedman LS, Reutenauer L, Messaddeq N, Perlman SL, Lynch DR, Fedosov K, Schulz JB, Pandolfo M, Puccio H.

Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829.

Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice.

Gao Z, Todorov B, Barrett CF, van Dorp S, Ferrari MD, van den Maagdenberg AM, De Zeeuw CI, Hoebeek FE.

J Neurosci. 2012 Oct 31;32(44):15533-46. doi: 10.1523/JNEUROSCI.2454-12.2012.

Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.

Obayashi M, Ishikawa K, Izumi Y, Takahashi M, Niimi Y, Sato N, Onodera O, Kaji R, Nishizawa M, Mizusawa H.

J Hum Genet. 2012 Mar;57(3):202-6. doi: 10.1038/jhg.2012.5.

Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects.

Schadt KA, Friedman LS, Regner SR, Mark GE, Lynch DR, Lin KY.

J Child Neurol. 2012 Sep;27(9):1187-92. doi: 10.1177/0883073812448461.

Cognition in Friedreich ataxia.

Nieto A, Correia R, de Nóbrega E, Montón F, Hess S, Barroso J.

Cerebellum. 2012 Dec;11(4):834-44. doi: 10.1007/s12311-012-0363-9.

[What is ataxia? - Towards developing a new scale for ataxia].

Onodera O.

Rinsho Shinkeigaku. 2012;52(11):988-9. Japanese.

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

Palin EJ, Hakonen AH, Korpela M, Paetau A, Suomalainen A.

J Neurol Sci. 2012 Apr 15;315(1-2):160-3. doi: 10.1016/j.jns.2011.11.028.

Auditory processing deficits in children with Friedreich ataxia.

Rance G, Corben L, Delatycki M.

J Child Neurol. 2012 Sep;27(9):1197-203. doi: 10.1177/0883073812448963.

[Anti-thyroid antibodies in two patients with subacute dementia, ataxia, and myoclonus].

Kondziella D, Hansen K, Gonzalez T, Gideon P, Christiansen I, Sellebjerg F.

Ugeskr Laeger. 2012 Feb 27;174(9):577-9. Danish.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Guerrero-López R, García-Ruiz PJ, Giráldez BG, Durán-Herrera C, Querol-Pascual MR, Ramírez-Moreno JM, Más S, Serratosa JM.

Mov Disord. 2012 Dec;27(14):1826-7. doi: 10.1002/mds.25114. No abstract available.

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.

Bulteau AL, Planamente S, Jornea L, Dur A, Lesuisse E, Camadro JM, Auchère F.

Biochim Biophys Acta. 2012 Feb;1822(2):212-25. doi: 10.1016/j.bbadis.2011.11.003.

Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum.

Takahashi M, Ishikawa K, Sato N, Obayashi M, Niimi Y, Ishiguro T, Yamada M, Toyoshima Y, Takahashi H, Kato T, Takao M, Murayama S, Mori O, Eishi Y, Mizusawa H.

Neuropathology. 2012 Dec;32(6):595-603. doi: 10.1111/j.1440-1789.2012.01302.x.