774 results on '"Brais, Bernard"'
Search Results
2. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
3. An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
4. Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
5. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
6. Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
7. RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile
8. Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
9. The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale
10. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
11. Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
12. White matter abnormalities in 15 subjects with SPG76
13. French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia
14. Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms
15. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
16. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study
17. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
18. Oculopharyngeal Muscular Dystrophy
19. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
20. Emerging and established biomarkers of oculopharyngeal muscular dystrophy
21. Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development
22. Digital health metrics reveal upper limb impairment profiles in ARSACS
23. Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)
24. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
25. Cross-cultural adaptation of the SWAL-QOL and the Sydney Swallow Questionnaire (SSQ) into French-Canadian and preliminary assessment for their use in an oculopharyngeal muscular dystrophy (OPMD) population
26. GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus (P6-3.013)
27. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
28. MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
29. Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
30. BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy
31. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
32. The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
33. Person‑Reported Ataxia Impact Scale
34. Toward a Better Understanding of Walking Speed in Ataxia of Charlevoix-Saguenay: a Factor Exploratory Study
35. Efficacy of whole exome sequencing re-analysis in adult-onset leukodystrophies
36. La neurogénétique au Québec: de l'histoire à la découverte
37. A new patient-reported outcome measure for the assessment of dysphagia in oculopharyngeal muscular dystrophy: The dysphagiameter
38. GAA-FGF14 ataxia: Exploring the clinical phenotype in a large French-Canadian cohort
39. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
40. Neuroradiological findings in GAA-FGF14 ataxia: Qualitative retrospective review and volumetric analysis in a series of 26 subjects
41. Mitochondrial MS mimickers: A literature review and a novel form associated to variants in the TUFM gene
42. A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
43. The person-reported ataxia impact scale: A new prom in recessive ataxia
44. Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B.
45. Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay
46. Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay
47. 3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation
48. Characterization of muscle strength and mobility in oculopharyngeal muscular dystrophy
49. BiallelicSOX8Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction
50. Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures
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