162 results on '"Dicaire, Marie-Josée"'
Search Results
2. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
3. Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
4. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
5. Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia.
6. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
7. BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy
8. The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
9. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
10. GAA-FGF14 ataxia: Exploring the clinical phenotype in a large French-Canadian cohort
11. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
12. A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
13. Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations
14. Frequency of GAA-FGF14Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
15. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
16. IntronicFGF14GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response
17. Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
18. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
19. IntronicFGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
20. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
21. A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
22. Intronic FGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
23. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
24. Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
25. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
26. Optimized testing strategy for the diagnosis of GAA-FGF14ataxia
27. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
28. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
29. The J Domain of Sacsin Disrupts Intermediate Filament Assembly
30. Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
31. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia
32. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
33. Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
34. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA
35. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation
36. The J domain of sacsin disrupts intermediate filament assembly
37. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
38. PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression
39. The dynamism of PABPN1 nuclear inclusions during the cell cycle
40. A Novel Late-onset Dominant Episodic Ataxia in a Large French Canadian Kindred (1460)
41. Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family
42. Novel Recessive TNNT1 Congenital Core‐Rod Myopathy in French Canadians
43. PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions
44. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
45. Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
46. Immunolymphscintigraphy with BCD-F9 Monoclonal Antibody and Its F(ab’)2 Fragments for the Preoperative Staging of Breast Cancers
47. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
48. Multisystem Proteinopathy Associated with a VCPG156S Mutation in a French Canadian Family
49. Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2Mutation
50. BAG3P215L/KOMice as a Model of BAG3P209LMyofibrillar Myopathy
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