Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

1.

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G.

Clin Chem. 2013 Oct;59(10):1461-9. doi: 10.1373/clinchem.2013.207472. Epub 2013 Jul 9.

PMID:
23838345
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8.

PMID:
20675166
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.

Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, Sorrentino P, Pane C, Tessa A, Brescia Morra V, Cocozza S, De Michele G, Santorelli FM, Filla A.

PLoS One. 2011 Mar 11;6(3):e17627. doi: 10.1371/journal.pone.0017627.

PMID:
21412413
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.

Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G.

J Biol Chem. 2013 Feb 8;288(6):4116-27. doi: 10.1074/jbc.M112.435263. Epub 2012 Dec 26.

PMID:
23269675
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
6.

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. eCollection 2013.

PMID:
24023969
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA.

Genomics. 2006 Nov;88(5):580-90. Epub 2006 Aug 17.

PMID:
16919418
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
9.

Molecular and clinical investigation of Iranian patients with Friedreich ataxia.

Salehi MH, Houshmand M, Aryani O, Kamalidehghan B, Khalili E.

Iran Biomed J. 2014;18(1):28-33.

PMID:
24375160
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia.

Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M.

Nucleic Acids Res. 2008 Nov;36(19):6056-65. doi: 10.1093/nar/gkn604. Epub 2008 Sep 27.

PMID:
18820300
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Complete FXN deletion in a patient with Friedreich's ataxia.

van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ.

Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12.

PMID:
22691228
[PubMed - indexed for MEDLINE]
12.

Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function.

Selak MA, Lyver E, Micklow E, Deutsch EC, Onder O, Selamoglu N, Yager C, Knight S, Carroll M, Daldal F, Dancis A, Lynch DR, Sarry JE.

Mitochondrion. 2011 Mar;11(2):342-50. doi: 10.1016/j.mito.2010.12.003. Epub 2010 Dec 13.

PMID:
21147271
[PubMed - indexed for MEDLINE]
13.

Friedreich's ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex.

Tsai CL, Bridwell-Rabb J, Barondeau DP.

Biochemistry. 2011 Jul 26;50(29):6478-87. doi: 10.1021/bi200666h. Epub 2011 Jun 29.

PMID:
21671584
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.

Bridwell-Rabb J, Winn AM, Barondeau DP.

Biochemistry. 2011 Aug 23;50(33):7265-74. doi: 10.1021/bi200895k. Epub 2011 Aug 2.

PMID:
21776984
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB.

Neurogenetics. 2011 Nov;12(4):307-13. doi: 10.1007/s10048-011-0296-3. Epub 2011 Aug 10.

PMID:
21830088
[PubMed - indexed for MEDLINE]
16.

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.

Deutsch EC, Oglesbee D, Greeley NR, Lynch DR.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):994-1002. doi: 10.1136/jnnp-2013-306788. Epub 2014 Jan 24.

PMID:
24463479
[PubMed - in process]
17.

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.

Greene E, Mahishi L, Entezam A, Kumari D, Usdin K.

Nucleic Acids Res. 2007;35(10):3383-90. Epub 2007 May 3.

PMID:
17478498
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Exonic deletions of FXN and early-onset Friedreich ataxia.

Anheim M, Mariani LL, Calvas P, Cheuret E, Zagnoli F, Odent S, Seguela C, Marelli C, Fritsch M, Delaunoy JP, Brice A, Dürr A, Koenig M.

Arch Neurol. 2012 Jul;69(7):912-6.

PMID:
22409940
[PubMed - indexed for MEDLINE]
19.

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M.

Hum Mol Genet. 2008 Mar 1;17(5):735-46. Epub 2007 Nov 27.

PMID:
18045775
[PubMed - indexed for MEDLINE]
Free Article
20.

Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers.

Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF.

Mol Genet Metab. 2008 Aug;94(4):491-7. doi: 10.1016/j.ymgme.2008.03.019. Epub 2008 May 15.

PMID:
18485778
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk