Clinical and genetic study of Friedreich ataxia in an Australian population.
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Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesTreatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromesInfiltrative CardiomyopathiesPharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxiaAuditory processing deficits in children with Friedreich ataxia.Friedreich ataxia: dysarthria profile and clinical data.Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency.Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.Hepatic mitochondrial dysfunction in Friedreich ataxia.Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxiaFriedreich's ataxia: pathology, pathogenesis, and molecular genetics.Consensus clinical management guidelines for Friedreich ataxia.Friedreich ataxia in Norway - an epidemiological, molecular and clinical studyFriedreich Ataxia and nephrotic syndrome: a series of two patientsHow is disease progress in Friedreich's ataxia best measured? A study of four rating scales.Freidreich's ataxia with retained reflexes: a phenotype and genotype correlation.Clinical features of Friedreich ataxia.Predictors of progression in patients with Friedreich ataxiaMolecular and clinical investigation of Iranian patients with Friedreich ataxia.Diabetes in Friedreich ataxia.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Milestones in Friedreich ataxia: more than a century and still learning.Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.First Presentation of Diabetes as Diabetic Ketoacidosis in a Case of Friedreich's Ataxia.Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia.Mortality in Friedreich's Ataxia.Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia.Friedreich's ataxia: clinical features, pathogenesis and management.Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach.Automatic method of pause measurement for normal and dysarthric speech.A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools.Urinary symptoms and urodynamics findings in patients with Friedreich's ataxia.Emerging therapeutics for the treatment of Friedreich’s ataxiaEffects of Erythropoietin on Frataxin Levels and Mitochondrial Function in Friedreich Ataxia – a Dose–Response TrialHFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxiaA novel deletion–insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype
P2860
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P2860
Clinical and genetic study of Friedreich ataxia in an Australian population.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Clinical and genetic study of Friedreich ataxia in an Australian population.
@en
Clinical and genetic study of Friedreich ataxia in an Australian population.
@nl
type
label
Clinical and genetic study of Friedreich ataxia in an Australian population.
@en
Clinical and genetic study of Friedreich ataxia in an Australian population.
@nl
prefLabel
Clinical and genetic study of Friedreich ataxia in an Australian population.
@en
Clinical and genetic study of Friedreich ataxia in an Australian population.
@nl
P2093
P2860
P1476
Clinical and genetic study of Friedreich ataxia in an Australian population
@en
P2093
G A Nicholson
J C MacMillan
M B Delatycki
R J Gardner
R Williamson
S M Forrest
P2860
P304
P356
10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>3.0.CO;2-2
P50
P577
1999-11-01T00:00:00Z