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Significats de frda en anglès

rus
атаксия фридрейха
portuguès
ataxia de friedreich
espanyol
ataxia de friedreich
català
atàxia familiar

Human disease.

atàxia familiar
Sinònims
Examples for "fa"
Examples for "fa"
1
Peridal hasn't even had a chance to live in a fa'lodge yet.
The Shelters of Stone
2
When Qudiya-fa-Kana heard these lines, she made her disapproval plain to see.
The Arabian Nights: Tales of 1,001 Nights. Vol. 1
3
Here comes Neil, and we'll let the question fa' to the ground.
The Bow of Orange Ribbon: A Romance of New York
4
It was an old Breguet watch of her fa-ther's, from the fifties.
Safe harbour
5
It hasn't seen a true repeat since Graham's 2005 FA until today.
Climbing Magazine
1
The Friedreich ataxia phenotype is the most frequent clinical presentation.
Pubmed
2
Friedreich ataxia (FA) is an autosomal recessive degenerative disease of the nervous system of unknown biochemical cause.
Pubmed
3
Reduced expression of a mitochondrial protein called frataxin causes a neurodegenerative disorder named Friedreich Ataxia, which decreases life span in humans.
Pubmed
4
We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15.
Pubmed
5
Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning.
Pubmed
1
The preservation of tendon reflexes distinguishes this disorder from Friedreich's ataxia.
Pubmed
2
He has used a wheelchair since Friedreich's ataxia, a muscle-wasting disease, made walking impossible.
The Guardian
3
Other important differences from Friedreich's ataxia are absence of optic atrophy, diabetes mellitus, cardiomyopathy and severe skeletal deformity.
Pubmed
4
A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus.
Pubmed
5
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.
Pubmed
Ús de frda en anglès
1
Nevertheless, inadequacy of existing FRDA-cardiac cellular models limited cardiomyopathy studies.
Pubmed
2
Conclusions: DFP modulated iron homeostasis in FRDA-hiPSC-cardiomyocytes and effectively relieved stress-stimulation related to cardiomyopathy.
Pubmed
3
Linkage data indicate that FRDA is at less than 1 cM from both markers.
Pubmed
4
FRDA is also associated with cognitive impairments.
Pubmed
5
Methods: Healthy control and FRDA patient-specific hPSC-hvCMs were derived by directed differentiation using a small molecule-based protocol reported previously.
Pubmed
6
Our aim was to investigate the changes in the cognitive functioning of FRDA patients over an average eight-year timeframe.
Pubmed
7
Methods: Twenty-nine FRDA patients who had been part of the sample of a previous study participated in the present study.
Pubmed
8
The YACs were used to search for new polymorphic markers needed to map FRDA precisely with respect to the cloned segment.
Pubmed
9
High evolutionary conservation of frataxin across species has enabled the development of disease models of FRDA in various unicellular and multicellular organisms.
Pubmed
10
Conclusions: Our study has demonstrated for the first time that patients with FRDA experience a significant decline over time in several cognitive domains.
Pubmed
11
We discuss the current hypotheses on the role of oxidative stress in FRDA and review some of the existing animal and cellular models.
Pubmed
12
Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning.
Pubmed