667 results on '"Boesch, Sylvia"'
Search Results
2. Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
3. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
4. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
5. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)
6. Approval of omaveloxolone for Friedreich ataxia
7. Episignature analysis of moderate effects and mosaics
8. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options
9. Dystonia management across Europe within ERN-RND: current state and future challenges
10. Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
11. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
12. CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options
13. GAA/FGF14 ataxia: an ode to the phenotype-first approach
14. The MOXIe Trial of Omaveloxolone in Friedreich Ataxia: Exploring the Transient Nature of Treatment-emergent Adverse Events (P7-3.016)
15. Instrumented gait analysis defines the walking signature of CACNA1A disorders
16. Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
17. Prediction of the disease course in Friedreich ataxia
18. Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue
19. Genetic Determined Iron Starvation Signature in Friedreich's Ataxia.
20. Female sexual dysfunction in multiple system atrophy: a prospective cohort study
21. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
22. The electrophysiological footprint of CACNA1A disorders
23. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
24. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
25. Monogenic variants in dystonia: an exome-wide sequencing study
26. Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 deficiency
27. Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.
28. Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
29. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
30. Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
31. Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia
32. Experimental drugs for Friedrich’s ataxia: progress and setbacks in clinical trials
33. Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study
34. Body Mass Index and Height in Friedreich Ataxia: What Do We Know?
35. Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
36. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
37. Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app
38. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study
39. Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
40. SOXopathies and dystonia: Consolidation of a recurrent association
41. Reply to: “Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants”
42. Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich’s Ataxia
43. Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)
44. Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
45. Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
46. Autonomic function testing in Friedreich’s ataxia
47. Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias
48. Autonomic function testing in spinocerebellar ataxia type 2
49. New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant
50. Episignature analysis of moderate effects and mosaics
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