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Friedreich ataxia,FRDA相关文献:
Friedreich ataxia: clinical features and new developments.
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR.
Neurodegener Dis Manag. 2022 Oct;12(5):267-283. doi: 10.2217/nmt-2022-0011. Epub 2022 Jun 29.
PMID:35766110
Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations.
Lynch DR, Perlman S, Schadt K.
Expert Rev Neurother. 2024 Mar;24(3):251-258. doi: 10.1080/14737175.2024.2310617. Epub 2024 Jan 30.
PMID:38269532
Friedreich ataxia.
Johnson WG.
Clin Neurosci. 1995;3(1):33-8.
PMID:7614092
Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales.
Bürk K, Schulz SR, Schulz JB.
J Neurochem. 2013 Aug;126 Suppl 1:118-24. doi: 10.1111/jnc.12318.
PMID:23859347
Friedreich's ataxia: new insights.
Krasilnikova MM, Humphries CL, Shinsky EM.
Emerg Top Life Sci. 2023 Dec 14;7(3):313-323. doi: 10.1042/ETLS20230017.
PMID:37698160
Skeletal Muscle Involvement in Friedreich Ataxia.
Indelicato E, Wanschitz J, Löscher W, Boesch S.
Int J Mol Sci. 2024 Sep 13;25(18):9915. doi: 10.3390/ijms25189915.
PMID:39337401
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P.
Cell Death Dis. 2023 Dec 8;14(12):805. doi: 10.1038/s41419-023-06320-y.
PMID:38062036
Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons.
Mazzara PG, Muggeo S, Luoni M, Massimino L, Zaghi M, Valverde PT, Brusco S, Marzi MJ, Palma C, Colasante G, Iannielli A, Paulis M, Cordiglieri C, Giannelli SG, Podini P, Gellera C, Taroni F, Nicassio F, Rasponi M, Broccoli V.
Nat Commun. 2020 Aug 21;11(1):4178. doi: 10.1038/s41467-020-17954-3.
PMID:32826895
Friedreich ataxia: an overview.
Delatycki MB, Williamson R, Forrest SM.
J Med Genet. 2000 Jan;37(1):1-8. doi: 10.1136/jmg.37.1.1.
PMID:10633128
Therapeutic Prospects for Friedreich's Ataxia.
Zhang S, Napierala M, Napierala JS.
Trends Pharmacol Sci. 2019 Apr;40(4):229-233. doi: 10.1016/j.tips.2019.02.001.
PMID:30905359
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