Results 91 to 100 of about 6,668 (188)
Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures
Frontiers in NeurologyIntroductionGait assessments in a clinical setting may not accurately reflect mobility in everyday life. To better understand gait during daily life, we compared measures that discriminated Friedreich ataxia (FRDA) from healthy control (HC) subjects in ...
Hannah L. Casey +13 more
doaj +1 more source
Functional assessment of FRDA-3′-UTR versus WT-3′-UTR.
, 2013 U2OS (black bars) and HEK-293 (grey bars) cells were transfected with luciferase reporter gene system, respectively 150 ng of empty plasmid or plasmid WT-3′-UTR or plasmid FRDA-3′-UTR.
Simonetta Bandiera (217675) +9 more
core +1 more source
The effect of ketosis on the FRDA phenotypes
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, vision loss, scoliosis and cardiac abnormalities.
An, Jacob +6 more
core
, 2021 Friedreich ataxia is a disease mainly due to the low expression of frataxin protein with consequent production of ROS and free iron accumulation. Since one of the major causes of death is associated with cardiac hypertrophy, it is of crucial importance ...
PANARELLO, LUCA
core
Two autosomal recessive neuromuscular disorders - FRDA and LGMD2A, in a single Bulgarian pedigree
, 2015 Here we report a single pedigree affected by two different recessive neuromuscular disorders, namely Friedreich ataxia (FRDA) and Limb-Girdle Muscular Dystrophy Type 2A.
Todorov, Tihomir; Genetic-Medico Diagnostic Laboratory `Genica`, Sofia +3 more
core +1 more source
, 2013 Immunoblotting of human catalase, glutathione peroxidase 1 (GPX1) and loading control GAPDH in (A) FRDA/control fibroblasts and (C) control fibroblasts after exposure to minimal medium (MIN) or MSC conditioned medium (MSC CM) for 24 hours.
Kevin Kemp (342472) +5 more
core +1 more source
Two types of fumarate reductase transducing phages, lambda frdA, carrying the wild-type frdA gene but differing in the orientation of a R.HindIII fragment of bacterial DNA were isolated from populations of recombinant transducing phages by their ability ...
Guest, J R, Cole, S T
core +1 more source
miRNAs targeting of FRDA-3′-UTR.
, 2013 A) Schematic representation of the nine miRNAs predicted to target FXN 3′-UTR dependengly on the haplotype: WT-3′-UTR (upper panel) or FRDA-3′-UTR (lower panel). The SNPs genotyped in the frataxin 3′-UTR are indicated in bold letters.
Simonetta Bandiera (217675) +9 more
core +1 more source
Genetic association of ITR3 and SNPs of the FXN 3′-UTR with FRDA haplotype in cases versus controls.
, 2013 Genetic association of ITR3 and SNPs of the FXN 3′-UTR with FRDA haplotype in cases versus controls.
Simonetta Bandiera (217675) +9 more
core +1 more source
Stem Cell ResearchFriedreich’s ataxia (FRDA) is a multisystem, autosomal recessive disease caused by biallelic expansion of GAA repeats in intron 1 of the frataxin gene (FXN).
Pouiré Yameogo +8 more
doaj +1 more source