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Page 1
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV. Galea CA, et al. Among authors: giunti p. Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595. Ann Neurol. 2016. PMID: 26704351
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Among authors: giunti p. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
Co-enzyme Q10 and idebenone use in Friedreich's ataxia.
Parkinson MH, Schulz JB, Giunti P. Parkinson MH, et al. Among authors: giunti p. J Neurochem. 2013 Aug;126 Suppl 1:125-41. doi: 10.1111/jnc.12322. J Neurochem. 2013. PMID: 23859348 Free article. Review.
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Tezenas du Montcel S, et al. Among authors: giunti p. J Med Genet. 2014 Jul;51(7):479-86. doi: 10.1136/jmedgenet-2013-102200. Epub 2014 Apr 29. J Med Genet. 2014. PMID: 24780882 Free PMC article.
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. Libri V, et al. Among authors: giunti p. Lancet. 2014 Aug 9;384(9942):504-13. doi: 10.1016/S0140-6736(14)60382-2. Epub 2014 Apr 30. Lancet. 2014. PMID: 24794816 Free article.
When the penny drops.
Parkinson MH, Patel R, Davagnanam I, Wood NW, Giunti P. Parkinson MH, et al. Among authors: giunti p. Pract Neurol. 2014 Dec;14(6):409-14. doi: 10.1136/practneurol-2014-000859. Epub 2014 Jun 9. Pract Neurol. 2014. PMID: 24914025 Free PMC article. No abstract available.
219 results