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Results: 1 to 20 of 45

1.

Quantifiable evaluation of cerebellar signs in children.

Filipovic Pierucci A, Mariotti C, Panzeri M, Giunti P, Boesch S, Schulz JB, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS Study Group.

Neurology. 2015 Mar 24;84(12):1225-32. doi: 10.1212/WNL.0000000000001403. Epub 2015 Feb 25.

PMID:
25716360
2.

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
3.

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Igoillo-Esteve M, Gurgul-Convey E, Hu A, Romagueira Bichara Dos Santos L, Abdulkarim B, Chintawar S, Marselli L, Marchetti P, Jonas JC, Eizirik DL, Pandolfo M, Cnop M.

Hum Mol Genet. 2015 Apr 15;24(8):2274-86. doi: 10.1093/hmg/ddu745. Epub 2014 Dec 30.

PMID:
25552656
4.

Epigenetic therapy for Friedreich ataxia.

Soragni E, Miao W, Iudicello M, Jacoby D, De Mercanti S, Clerico M, Longo F, Piga A, Ku S, Campau E, Du J, Penalver P, Rai M, Madara JC, Nazor K, O'Connor M, Maximov A, Loring JF, Pandolfo M, Durelli L, Gottesfeld JM, Rusche JR.

Ann Neurol. 2014 Oct;76(4):489-508. doi: 10.1002/ana.24260. Epub 2014 Sep 16.

5.

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F.

Ann Neurol. 2014 Oct;76(4):509-21. doi: 10.1002/ana.24248. Epub 2014 Aug 30.

PMID:
25112865
6.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.

PMID:
24719489
7.

Consensus clinical management guidelines for Friedreich ataxia.

Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB; Clinical Management Guidelines Writing Group.

Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7.

8.

Cerebellar and afferent ataxias.

Pandolfo M, Manto M.

Continuum (Minneap Minn). 2013 Oct;19(5 Movement Disorders):1312-43. doi: 10.1212/01.CON.0000436158.39285.22. Review.

PMID:
24092292
9.

150 years of Friedreich ataxia: from its discovery to therapy.

Schulz JB, Pandolfo M.

J Neurochem. 2013 Aug;126 Suppl 1:1-3. No abstract available.

PMID:
24024236
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.

11.

Deferiprone for the treatment of Friedreich's ataxia.

Pandolfo M, Hausmann L.

J Neurochem. 2013 Aug;126 Suppl 1:142-6. doi: 10.1111/jnc.12300. Review.

PMID:
23859349
12.

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
13.

Common data elements for clinical research in Friedreich's ataxia.

Lynch DR, Pandolfo M, Schulz JB, Perlman S, Delatycki MB, Payne RM, Shaddy R, Fischbeck KH, Farmer J, Kantor P, Raman SV, Hunegs L, Odenkirchen J, Miller K, Kaufmann P.

Mov Disord. 2013 Feb;28(2):190-5. doi: 10.1002/mds.25201. Epub 2012 Dec 12.

14.

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.

Hick A, Wattenhofer-Donzé M, Chintawar S, Tropel P, Simard JP, Vaucamps N, Gall D, Lambot L, André C, Reutenauer L, Rai M, Teletin M, Messaddeq N, Schiffmann SN, Viville S, Pearson CE, Pandolfo M, Puccio H.

Dis Model Mech. 2013 May;6(3):608-21. doi: 10.1242/dmm.010900. Epub 2012 Nov 7.

15.

Friedreich ataxia: new pathways.

Pandolfo M.

J Child Neurol. 2012 Sep;27(9):1204-11. doi: 10.1177/0883073812448534. Epub 2012 Jun 29.

16.

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. Epub 2012 Jun 26.

17.

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Kearney M, Orrell RW, Fahey M, Pandolfo M.

Cochrane Database Syst Rev. 2012 Apr 18;4:CD007791. doi: 10.1002/14651858.CD007791.pub3. Review.

PMID:
22513953
18.

The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms.

Weidemann F, Rummey C, Bijnens B, Störk S, Jasaityte R, Dhooge J, Baltabaeva A, Sutherland G, Schulz JB, Meier T; Mitochondrial Protection with Idebenone in Cardiac or Neurological Outcome (MICONOS) study group.

Circulation. 2012 Apr 3;125(13):1626-34. doi: 10.1161/CIRCULATIONAHA.111.059477. Epub 2012 Feb 29.

19.

A gene expression phenotype in lymphocytes from Friedreich ataxia patients.

Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH.

Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526.

20.

Cardiomyopathy in Friedreich's ataxia.

Rahman F, Pandolfo M.

Acta Neurol Belg. 2011 Sep;111(3):183-7. Review.

PMID:
22141280
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