Results 1 to 10 of about 404 (117)
Genel Tıp Dergisi, 2022 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease, which may be accompanied by scoliosis, cardiac, endocrine and pulmonary comorbidities. We present our anesthesia experiences using total intravenous anesthesia (TIVA) method
Muhammed Köse +3 more
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Quetiapine treatment for psychosis in friedreich’s ataxia
Psychiatry and Clinical Psychopharmacology, 2021 Friedreich’s Ataxia is the most common form of progressive spinocerebellar ataxia with mixed sensory and cerebellar components and is inherited via an autosomal-recessive gene.
Serdar Oruc +4 more
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Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic
Рациональная фармакотерапия в кардиологии, 2021 Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia ...
E. I. Fomicheva +5 more
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Annals of Clinical and Translational Neurology, 2021 Background Friedreich’s ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich’s Ataxia Rating Scale, which are usually ...
Arne Mueller +11 more
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Nature Communications, 2022 Work in a mouse model of Friedreich’s ataxia has shown that administration of the cytokine granulocyte-colony stimulating factor (G-CSF) could have beneficial neuroprotective effects.
Kevin C. Kemp +8 more
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Neuroinflammation in Friedreich’s Ataxia
International Journal of Molecular Sciences, 2022 Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system damage.
Apolloni, Savina +2 more
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Predictors of loss of ambulation in Friedreich's ataxia
EClinicalMedicine, 2020 Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey +2 more
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FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review
Journal of Education, Health and Sport, 2023 Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania +5 more
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Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
Annals of Noninvasive Electrocardiology, 2021 Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno +7 more
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Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]
PLoS ONE, 2016 Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco +8 more
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