Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia
Objective: To identify genetic disease and efficacy markers for Friedreich’s ataxia (FRDA) Background: FRDA is a genetic disease caused by decreased expression of the mitochondrial…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…Tissue Frataxin Increases After Administration of CTI-1601, a Frataxin Replacement Therapy in Development for the Treatment of Friedreich’s Ataxia
Objective: To evaluate the pharmacodynamic (PD) and safety profiles of subcutaneous (SC) administration of multiple ascending doses of CTI-1601 in patients age ≥18 years with…Geographic and Financial Trends in the Utilization of Deep Brain Stimulation in the Medicare Population from 2013-2019
Objective: To evaluate the utilization of deep brain stimulation within the Medicare population across different regions and states in the United States Background: Deep brain…Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3: a randomized, double-blind, sham-controlled trial
Objective: To investigate if a 2-week regimen comprising daily sessions of cerebellar anodal transcranial direct current stimulation (tDCS) 1) diminishes ataxia and non-motor symptom severity…Cerebellar bioenergetic depletion following ubiquinol supplementation in a patient with COQ8A-related ataxia
Objective: To non-invasively map the individual treatment response in a patient with COQ8A-related ataxia following coenzyme Q10 supplementation. Background: Primary coenzyme Q10 (CoQ10) deficiency is…Feasibility and Acceptability of Lee Silverman Voice Treatment for patients with hereditary ataxia
Objective: This study aimed to assess the feasibility and acceptability of Lee Silverman Voice Treatment (LSVT) provided via Skype for patients with hereditary ataxia. Background:…Effects of deep transcranial magnetic stimulation of the cerebellum on cerebellar ataxias: A randomized, double-blind, cross-over clinical trial
Objective: To investigate whether cerebellar deep repetitive transcranial magnetic stimulation (d-rTMS) can improve ataxic symptoms when compared to sham stimulation. Background: Cerebellar ataxia remains a…A randomized, sham-controlled, crossover trial on Cerebello-Spinal Transcranial pulsed current stimulation (tPCS) in Ataxia
Objective: Patients of degenerative cerebellar ataxia present with slurring of speech, imbalance during walking and problem of co-ordination in limbs. Currently no effective treatment is…Plasma biomarker quantification in SCA3 using the Neurology 4-PLEX A kit and the Simoa technology
Objective: We present the results of plasma biomarker quantification in a cohort of spinocerebellar ataxia type-3 (SCA3) carriers using a Simoa assay. Background: Development of…
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