Results 81 to 90 of about 5,562 (221)
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia
Annals of Clinical and Translational Neurology, 2020 Dentate nuclei (DN) are involved in cerebellar modulation of motor and cognitive functions, whose impairment causes ataxia and cerebellar cognitive affective syndrome (CCAS).
Gilles Naeije +5 more
doaj +1 more source
Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi +2 more
wiley +1 more source
Analysis of the expression of respiratory chain subunits in fibroblasts from a patient with Friedreich ataxia, a mitochondrial neurodegenerative disease [PDF]
, 2022 openL’atassia di Friedreich (FRDA) è una malattia mitocondriale neurodegenerativa, causata da una diminuzione della proteina fratassina, che colpisce diversi organi e tessuti dell’organismo; fratassina è coinvolta nella generazione dei centri Fe-S ...
VERONESE, GIACOMO
core
An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK
Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar +4 more
wiley +1 more source
Prediction of the disease course in Friedreich ataxia
Scientific Reports, 2022 We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations of 602 ...
Christian Hohenfeld +24 more
doaj +1 more source
Journal of Child Neurology, 2012 Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications.
openaire +3 more sources
Deferiprone for the treatment of Friedreich's ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractFriedreich's ataxia (FRDA) is a neurological disease related to a deficiency of the protein frataxin involved in iron–sulfur (Fe–S) cluster biogenesis. This leads to an increased cellular iron uptake accumulating in mitochondria, and a subsequently disturbed iron homeostasis.
Pandolfo, Massimo, Hausmann, Laura
openaire +3 more sources
Advanced Science, Volume 13, Issue 26, 8 May 2026.Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian +11 more
wiley +1 more source
, 2019 OBJECTIVE: In vitro, in vivo, and open-label studies suggest that interferon gamma (IFN-γ 1b) may improve clinical features in Friedreich Ataxia through an increase in frataxin levels.
Tom Vescio +33 more
core +1 more source
ATAXIA DE FRIEDREICH: RELATO DE UM CASO COM MANIFESTAÇÃO TARDIA
Arquivos de Ciências da Saúde da UNIPAR, 2011 A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863.
Daniela Carvalho Cardozo +1 more
doaj