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Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.
Dionisi C, Chazalon M, Rai M, Keime C, Imbault V, Communi D, Puccio H, Schiffmann SN, Pandolfo M. Dionisi C, et al. Among authors: puccio h. Brain Commun. 2023 Jan 18;5(1):fcad007. doi: 10.1093/braincomms/fcad007. eCollection 2023. Brain Commun. 2023. PMID: 36865673 Free PMC article.
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. Martelli A, et al. Among authors: puccio h. Dis Model Mech. 2012 Nov;5(6):860-9. doi: 10.1242/dmm.009829. Epub 2012 Jun 26. Dis Model Mech. 2012. PMID: 22736457 Free PMC article.
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. Hick A, et al. Among authors: puccio h. Dis Model Mech. 2013 May;6(3):608-21. doi: 10.1242/dmm.010900. Epub 2012 Nov 7. Dis Model Mech. 2013. PMID: 23136396 Free PMC article.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group. Corben LA, et al. Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. Orphanet J Rare Dis. 2022. PMID: 36371255 Free PMC article.
Friedreich ataxia: the oxidative stress paradox.
Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V, Patel M, Drapier JC, Koenig M, Puccio H. Seznec H, et al. Among authors: puccio h. Hum Mol Genet. 2005 Feb 15;14(4):463-74. doi: 10.1093/hmg/ddi042. Epub 2004 Dec 22. Hum Mol Genet. 2005. PMID: 15615771
59 results