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Items: 1 to 20 of 76

1.

Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?

Misiakos EP, Siama E, Schizas D, Petropoulos C, Zavras N, Economopoulos N, Charalabopoulos A, Macheras A.

Case Rep Med. 2011;2011:648217. doi: 10.1155/2011/648217. Epub 2011 Aug 14.

2.

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ.

J Mol Med (Berl). 2001;78(11):626-32.

PMID:
11269509
3.

Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

Houshmand M, Panahi MS, Nafisi S, Soltanzadeh A, Alkandari FM.

Mitochondrion. 2006 Apr;6(2):82-8. Epub 2006 Apr 3.

PMID:
16581313
4.

Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia.

McCabe DJ, Ryan F, Moore DP, McQuaid S, King MD, Kelly A, Daly K, Barton DE, Murphy RP.

J Neurol. 2000 May;247(5):346-55. Erratum in: J Neurol 2000 Jun;247(6):483.

PMID:
10896266
5.

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.

6.

Friedreich's ataxia: clinical aspects and pathogenesis.

Pandolfo M.

Semin Neurol. 1999;19(3):311-21. Review.

PMID:
12194387
7.
8.

Marked variation in the cardiomyopathy associated with Friedreich's ataxia.

Dutka DP, Donnelly JE, Nihoyannopoulos P, Oakley CM, Nunez DJ.

Heart. 1999 Feb;81(2):141-7.

9.

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB.

Lancet Neurol. 2015 Feb;14(2):174-82. doi: 10.1016/S1474-4422(14)70321-7. Epub 2015 Jan 5.

PMID:
25566998
10.

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.

Petrillo S, Piermarini E, Pastore A, Vasco G, Schirinzi T, Carrozzo R, Bertini E, Piemonte F.

Int J Mol Sci. 2017 Oct 18;18(10). pii: E2173. doi: 10.3390/ijms18102173.

11.

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.

Hayashi G, Cortopassi G.

PLoS One. 2016 Apr 14;11(4):e0153574. doi: 10.1371/journal.pone.0153574. eCollection 2016.

12.

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.

Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rötig A, Rustin P.

Heart. 2002 Apr;87(4):346-9.

13.

Friedreich's ataxia: treatment within reach.

Dürr A.

Lancet Neurol. 2002 Oct;1(6):370-4. Review.

PMID:
12849398
14.

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.

McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH.

Mov Disord. 2001 Nov;16(6):1153-8.

PMID:
11748752
15.

Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy.

Gregory SA, MacRae CA, Aziz K, Sims KB, Schmahmann JD, Kardan A, Morss AM, Ellinor PT, Tawakol A, Fischman AJ, Gewirtz H.

Coron Artery Dis. 2007 Feb;18(1):15-22.

PMID:
17172925
16.

The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.

Wang Y, Wang Y, Marcus S, Busenlehner LS.

Biochim Biophys Acta. 2014 Oct;1840(10):3022-33. doi: 10.1016/j.bbagen.2014.06.017. Epub 2014 Jul 3.

PMID:
24997422
17.

Friedreich's ataxia and scoliosis: the experience at two institutions.

Milbrandt TA, Kunes JR, Karol LA.

J Pediatr Orthop. 2008 Mar;28(2):234-8. doi: 10.1097/BPO.0b013e318164fa79.

PMID:
18388721
18.

Infectious Delivery and Expression of a 135 kb Human FRDA Genomic DNA Locus Complements Friedreich's Ataxia Deficiency in Human Cells.

Gomez-Sebastian S, Gimenez-Cassina A, Diaz-Nido J, Lim F, Wade-Martins R.

Mol Ther. 2007 Feb;15(2):248-254. doi: 10.1038/sj.mt.6300021. Epub 2016 Dec 8.

PMID:
28182935
19.

Glutathione in blood of patients with Friedreich's ataxia.

Piemonte F, Pastore A, Tozzi G, Tagliacozzi D, Santorelli FM, Carrozzo R, Casali C, Damiano M, Federici G, Bertini E.

Eur J Clin Invest. 2001 Nov;31(11):1007-11.

PMID:
11737244
20.

Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress.

Gomes CM, Santos R.

Oxid Med Cell Longev. 2013;2013:487534. doi: 10.1155/2013/487534. Epub 2013 Jul 9. Review.

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