83 results on '"Friedreich ataxia"'
Search Results
2. Differential Effects of Cerebellar Transcranial Direct Current Stimulation with Gait Training on Functional Mobility, Balance, and Ataxia Symptoms
3. The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
4. Prevalence and Diagnostic Journey of Friedreich’s Ataxia in the State of São Paulo, Brazil
5. Exploring neuropsychiatric symptoms in Friedreich ataxia
6. An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
7. Plasma miRNAs Correlate with Structural Brain and Cardiac Damage in Friedreich’s Ataxia
8. Vestibular Pathology as Early Finding of Friedreich’s Ataxia in a 16 Years Old Woman
9. A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia
10. The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients
11. Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia
12. Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application
13. The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia
14. Longitudinal investigation of brain activation during motor tasks in Friedreich ataxia: 24-month data from IMAGE-FRDA
15. Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
16. The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis
17. Myocardial Perfusion Reserve in Children with Friedreich Ataxia
18. Longitudinal structural brain changes in Friedreich ataxia depend on disease severity: the IMAGE-FRDA study
19. Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations
20. Calpain-Inhibitors Protect Frataxin-Deficient Dorsal Root Ganglia Neurons from Loss of Mitochondrial Na+/Ca2+ Exchanger, NCLX, and Apoptosis
21. Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA
22. Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy
23. Neurodegenerative disorders associated with genes of mitochondria
24. Friedreich ataxia in COVID-19 time: current impact and future possibilities
25. Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
26. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
27. Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures
28. Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia
29. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil
30. Vestibular impact of Friedreich ataxia in early onset patients
31. ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
32. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres
33. Chemical shift assignment of a thermophile frataxin
34. Personality and Neuropsychological Profiles in Friedreich Ataxia
35. How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?
36. Risikogene bei Myopathien und mitochondrialen Erkrankungen
37. Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises
38. Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study
39. Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
40. Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling
41. Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients
42. Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia
43. “Both Sides of the Wheelchair”: The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors
44. Milestones in Friedreich ataxia: more than a century and still learning
45. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels
46. Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment
47. Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia
48. Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia
49. Low Bone Mineral Density in Friedreich Ataxia
50. Modeling of Friedreich ataxia-related iron overloading cardiomyopathy using patient-specific-induced pluripotent stem cells
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