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Significados de friedreich ataxia type 1 en inglés

ruso
атаксия фридрейха
portugués
ataxia de friedreich
español
ataxia de friedreich
catalán
atàxia familiar

Human disease.

      ataxia de friedreich
      Sinónimos
      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 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