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Significats de friedreich ataxia en anglès

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атаксия фридрейха
portuguès
ataxia de friedreich
espanyol
ataxia de friedreich
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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
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
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 friedreich ataxia en anglès
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