The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
about
Friedreich ataxia: an overviewCrystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin familyThe Molecular Basis of Iron-induced Oligomerization of Frataxin and the Role of the Ferroxidation Reaction in OligomerizationThe first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxiaProtein stability and dynamics modulation: the case of human frataxinImpaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.Autosomal recessive cerebellar ataxias.The structure and function of frataxin.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Consensus clinical management guidelines for Friedreich ataxia.Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets.Novel diagnostic paradigms for Friedreich ataxiaUnanswered questions in Friedreich ataxia.Management and therapy for cardiomyopathy in Friedreich's ataxia.Genetic and phenotypic variability of optic neuropathies.Selected missense mutations impair frataxin processing in Friedreich ataxiaCompound heterozygous FXN mutations and clinical outcome in friedreich ataxia.IGF-1 in Friedreich's Ataxia - proof-of-concept trialClinical and genetic study of Friedreich ataxia in an Australian population.Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.Triple therapy with deferiprone, idebenone and riboflavin in Friedreich's ataxia - open-label trial.Idebenone in Friedreich's ataxia
P2860
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P2860
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
The correlation of clinical ph ...... int mutations in the FRDA gene
@ast
The correlation of clinical ph ...... int mutations in the FRDA gene
@en
The correlation of clinical ph ...... int mutations in the FRDA gene
@nl
type
label
The correlation of clinical ph ...... int mutations in the FRDA gene
@ast
The correlation of clinical ph ...... int mutations in the FRDA gene
@en
The correlation of clinical ph ...... int mutations in the FRDA gene
@nl
prefLabel
The correlation of clinical ph ...... int mutations in the FRDA gene
@ast
The correlation of clinical ph ...... int mutations in the FRDA gene
@en
The correlation of clinical ph ...... int mutations in the FRDA gene
@nl
P2093
P356
P1433
P1476
The correlation of clinical ph ...... int mutations in the FRDA gene
@en
P2093
G A Nicholson
M B Delatycki
R Williamson
S M Forrest
P2888
P356
10.1007/S100480050037
P407
P577
1998-08-01T00:00:00Z