Results 41 to 50 of about 6,668 (188)
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia
Annals of Clinical and Translational Neurology, 2023 Objective Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat (GAA‐TR) expansion in the FXN gene. Clinical features of FRDA include ataxia, cardiomyopathy, and in some, vision loss. In this study, we characterize features of
Layne N. Rodden +9 more
doaj +1 more source
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE‐FRDA study [PDF]
Movement Disorders, 2017 ABSTRACTBackground: Friedreich ataxia is characterized by progressive motor incoordination that is linked to peripheral, spinal, and cerebellar neuropathology. Cerebral abnormalities are also reported in Friedreich ataxia, but their role in disease expression remains unclear.Methods: In this cross‐sectional functional magnetic resonance imaging study ...
Ian H. Harding +6 more
openaire +3 more sources
Presentation_2_A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats.PPTX
, 2023 IntroductionFriedreich’s ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein frataxin.
Sara Anjomani Virmouni (8937518) +8 more
core +1 more source
Arquivos de Neuro-Psiquiatria, 1999 Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene.
IDA V.D. SCHWARTZ +5 more
doaj +1 more source
Presentation_1_A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats.PPTX
, 2023 IntroductionFriedreich’s ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the FXN gene, which encodes the essential mitochondrial protein frataxin.
Sara Anjomani Virmouni (8937518) +8 more
core +1 more source
, 2006 Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro +13 more
core +1 more source
Proposed mechanism of 17β-Estradiol in BSO-treated FRDA fibroblasts.
, 2013 Proposed mechanism of 17β-Estradiol in BSO-treated FRDA fibroblasts.
James W. Simpkins (53039) +4 more
core +1 more source
An Overview of the Ferroptosis Hallmarks in Friedreich’s Ataxia
Biomolecules, 2020 Background: Friedreich’s ataxia (FRDA) is a neurodegenerative disease characterized by early mortality due to hypertrophic cardiomyopathy. FRDA is caused by reduced levels of frataxin (FXN), a mitochondrial protein involved in the synthesis of iron ...
Riccardo Turchi +3 more
doaj +1 more source
Friedreich ataxia: Investigating the relationships between mismatch repair gene expression, FXN gene expression and GAA repeat instability in human and mouse cells and tissues [PDF]
, 2012 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is the most common inherited ataxia disorder, caused by a GAA repeat expansion mutation within the first intron of the FXN gene ...
Ezzatizadeh, Vahid
core
BER capacity of the normal and FRDA patient lymphoblasts.
, 2014 BER capacity of the normal and FRDA patient lymphoblasts was measured by incubating a random DNA sequence substrate containing an abasic site (a THF residue) with cell extracts of the normal and FRDA patient lymphoblasts under the conditions described in
Yuan Liu (88411) +7 more
core +1 more source