Significats de frda1 en anglès

Nevertheless, inadequacy of existing FRDA-cardiac cellular models limited cardiomyopathy studies.

Conclusions: DFP modulated iron homeostasis in FRDA-hiPSC-cardiomyocytes and effectively relieved stress-stimulation related to cardiomyopathy.

Linkage data indicate that FRDA is at less than 1 cM from both markers.

FRDA is also associated with cognitive impairments.

Methods: Healthy control and FRDA patient-specific hPSC-hvCMs were derived by directed differentiation using a small molecule-based protocol reported previously.

Strain FA1 in monoculture colonized the plant material and degraded switchgrass at a faster rate than the community from which it was derived.

A goal in each half helped Cork to a win over a Longford side which must have been looking ahead to the FA1 Cup final.

Cells of strain FA1 could be acclimated through subculturing to grow at a maximal concentration of 13.4% ethanol.

The Friedreich ataxia phenotype is the most frequent clinical presentation.

Friedreich ataxia (FA) is an autosomal recessive degenerative disease of the nervous system of unknown biochemical cause.

Reduced expression of a mitochondrial protein called frataxin causes a neurodegenerative disorder named Friedreich Ataxia, which decreases life span in humans.

We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15.

Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning.

The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia.

He has used a wheelchair since Friedreich's ataxia, a muscle-wasting disease, made walking impossible.

Other important differences from Friedreich's ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity.

A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus.

Unexpectedly, the genes responsible for Friedreich's ataxia and a form of autosomal recessive spastic paraplegia place these diseases in the category of mitochondrial disorders.