Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 147

1.

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study.

Libri V, Yandim C, Athanasopoulos S, Loyse N, Natisvili T, Law PP, Chan PK, Mohammad T, Mauri M, Tam KT, Leiper J, Piper S, Ramesh A, Parkinson MH, Huson L, Giunti P, Festenstein R.

Lancet. 2014 Aug 9;384(9942):504-13. doi: 10.1016/S0140-6736(14)60382-2. Epub 2014 Apr 30.

PMID:
24794816
[PubMed - indexed for MEDLINE]
Free Article
2.

Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.

Chutake YK, Costello WN, Lam C, Bidichandani SI.

J Biol Chem. 2014 May 30;289(22):15194-202. doi: 10.1074/jbc.M114.566414. Epub 2014 Apr 15.

PMID:
24737321
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.

Perdomini M, Belbellaa B, Monassier L, Reutenauer L, Messaddeq N, Cartier N, Crystal RG, Aubourg P, Puccio H.

Nat Med. 2014 May;20(5):542-7. doi: 10.1038/nm.3510. Epub 2014 Apr 6.

PMID:
24705334
[PubMed - indexed for MEDLINE]
4.

Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.

Boesch S, Nachbauer W, Mariotti C, Sacca F, Filla A, Klockgether T, Klopstock T, Schöls L, Jacobi H, Büchner B, vom Hagen JM, Nanetti L, Manicom K.

Mov Disord. 2014 Jun;29(7):935-9. doi: 10.1002/mds.25836. Epub 2014 Feb 11.

PMID:
24515352
[PubMed - in process]
5.

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Delatycki MB, Tai G, Corben L, Yiu EM, Evans-Galea MV, Stephenson SE, Gurrin L, Allen KJ, Lynch D, Lockhart PJ.

Mov Disord. 2014 Jun;29(7):940-3. doi: 10.1002/mds.25795. Epub 2014 Jan 3.

PMID:
24390816
[PubMed - in process]
6.

Dysphagia and swallowing-related quality of life in Friedreich ataxia.

Vogel AP, Brown SE, Folker JE, Corben LA, Delatycki MB.

J Neurol. 2014 Feb;261(2):392-9. doi: 10.1007/s00415-013-7208-4. Epub 2013 Dec 27.

PMID:
24371004
[PubMed - indexed for MEDLINE]
7.

Does intrathecal baclofen have a place in the treatment of painful spasms in friedreich ataxia?

Berntsson SG, Holtz A, Melberg A.

Case Rep Neurol. 2013 Nov 21;5(3):201-3. doi: 10.1159/000356823. eCollection 2013.

PMID:
24348400
[PubMed]
Free PMC Article
8.

Cognitive deficits in Friedreich ataxia correlate with micro-structural changes in dentatorubral tract.

Akhlaghi H, Yu J, Corben L, Georgiou-Karistianis N, Bradshaw JL, Storey E, Delatycki MB, Egan GF.

Cerebellum. 2014 Apr;13(2):187-98. doi: 10.1007/s12311-013-0525-4.

PMID:
24085646
[PubMed - indexed for MEDLINE]
9.

Friedreich ataxia: executive control is related to disease onset and GAA repeat length.

Nachbauer W, Bodner T, Boesch S, Karner E, Eigentler A, Neier L, Benke T, Delazer M.

Cerebellum. 2014 Feb;13(1):9-16. doi: 10.1007/s12311-013-0513-8.

PMID:
23925595
[PubMed - indexed for MEDLINE]
10.

Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia.

Gottesfeld JM, Rusche JR, Pandolfo M.

J Neurochem. 2013 Aug;126 Suppl 1:147-54. doi: 10.1111/jnc.12302. Review.

PMID:
23859350
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Diabetes in Friedreich ataxia.

Cnop M, Mulder H, Igoillo-Esteve M.

J Neurochem. 2013 Aug;126 Suppl 1:94-102. doi: 10.1111/jnc.12216. Review.

PMID:
23859345
[PubMed - indexed for MEDLINE]
12.

Longitudinal strain in Friedreich Ataxia: a potential marker for early left ventricular dysfunction.

St John Sutton M, Ky B, Regner SR, Schadt K, Plappert T, He J, D'Souza B, Lynch DR.

Echocardiography. 2014;31(1):50-7. doi: 10.1111/echo.12287. Epub 2013 Jul 9.

PMID:
23834395
[PubMed - indexed for MEDLINE]
13.

Analysis of the visual system in Friedreich ataxia.

Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR.

J Neurol. 2013 Sep;260(9):2362-9. doi: 10.1007/s00415-013-6978-z. Epub 2013 Jun 18.

PMID:
23775342
[PubMed - indexed for MEDLINE]
14.

Increased prevalence of sleep-disordered breathing in Friedreich ataxia.

Corben LA, Ho M, Copland J, Tai G, Delatycki MB.

Neurology. 2013 Jul 2;81(1):46-51. doi: 10.1212/WNL.0b013e318297ef18. Epub 2013 May 22.

PMID:
23700333
[PubMed - indexed for MEDLINE]
15.

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.

Chan PK, Torres R, Yandim C, Law PP, Khadayate S, Mauri M, Grosan C, Chapman-Rothe N, Giunti P, Pook M, Festenstein R.

Hum Mol Genet. 2013 Jul 1;22(13):2662-75. doi: 10.1093/hmg/ddt115. Epub 2013 Mar 7.

PMID:
23474817
[PubMed - indexed for MEDLINE]
Free Article
16.

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia.

Low SC, Corben LA, Delatycki MB, Ternes AM, Addamo PK, Georgiou-Karistianis N.

J Neurol. 2013 Jul;260(7):1757-64. doi: 10.1007/s00415-013-6869-3. Epub 2013 Mar 5.

PMID:
23463366
[PubMed - indexed for MEDLINE]
17.

Very late-onset Friedreich ataxia: later than life expectancy?

Alvarez V, Arnold P, Kuntzer T.

J Neurol. 2013 May;260(5):1408-9. doi: 10.1007/s00415-013-6874-6. Epub 2013 Feb 22. No abstract available.

PMID:
23430166
[PubMed - indexed for MEDLINE]
18.

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

Li L, Voullaire L, Sandi C, Pook MA, Ioannou PA, Delatycki MB, Sarsero JP.

PLoS One. 2013;8(2):e55940. doi: 10.1371/journal.pone.0055940. Epub 2013 Feb 13.

PMID:
23418481
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.

Cnop M, Igoillo-Esteve M, Rai M, Begu A, Serroukh Y, Depondt C, Musuaya AE, Marhfour I, Ladrière L, Moles Lopez X, Lefkaditis D, Moore F, Brion JP, Cooper JM, Schapira AH, Clark A, Koeppen AH, Marchetti P, Pandolfo M, Eizirik DL, Féry F.

Ann Neurol. 2012 Dec;72(6):971-82. doi: 10.1002/ana.23698.

PMID:
23280845
[PubMed - indexed for MEDLINE]
20.

Management and therapy for cardiomyopathy in Friedreich's ataxia.

Lynch DR, Regner SR, Schadt KA, Friedman LS, Lin KY, St John Sutton MG.

Expert Rev Cardiovasc Ther. 2012 Jun;10(6):767-77. doi: 10.1586/erc.12.57. Review.

PMID:
22894632
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk