Results 1 to 10 of about 4,540 (202)
Quetiapine treatment for psychosis in friedreich’s ataxia [PDF]
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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Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale [PDF]
Annals of Clinical and Translational NeurologyThe placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular ...
Christian Rummey +2 more
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Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late [PDF]
Annals of Clinical and Translational NeurologyFriedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with ...
Kathrin Reetz +20 more
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Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics [PDF]
Annals of Indian Academy of NeurologyBackground and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale +8 more
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Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study [PDF]
Annals of Clinical and Translational NeurologyObjectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16
Christian Rummey +4 more
doaj +2 more sources
Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia [PDF]
Annals of Clinical and Translational NeurologyObjective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton +7 more
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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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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
doaj +1 more source