Frataxin levels in peripheral tissue in Friedreich ataxia.
about
Analyzing the Effects of a G137V Mutation in the FXN Gene.Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich's ataxia.Degenerative Ataxias: challenges in clinical research.Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.Selected missense mutations impair frataxin processing in Friedreich ataxiaComprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patientsFriedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases
P2860
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P2860
Frataxin levels in peripheral tissue in Friedreich ataxia.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Frataxin levels in peripheral tissue in Friedreich ataxia.
@ast
Frataxin levels in peripheral tissue in Friedreich ataxia.
@en
type
label
Frataxin levels in peripheral tissue in Friedreich ataxia.
@ast
Frataxin levels in peripheral tissue in Friedreich ataxia.
@en
prefLabel
Frataxin levels in peripheral tissue in Friedreich ataxia.
@ast
Frataxin levels in peripheral tissue in Friedreich ataxia.
@en
P2093
P2860
P356
P1476
Frataxin levels in peripheral tissue in Friedreich ataxia.
@en
P2093
Alicia F Brocht
Carlton Christie
Chad Hoyle
Christoper M Gomez
David R Lynch
Elisia Clark
Eric C Deutsch
George R Wilmot
Grace Yoon
Jennifer M Farmer
P2860
P304
P356
10.1002/ACN3.225
P577
2015-07-01T00:00:00Z