396 results on '"Saraiva-Pereira, Maria Luiza"'
Search Results
2. The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
3. Machado Joseph-Disease Is Rare in the Peruvian Population
4. The longitudinal progression of MRI changes in pre-ataxic carriers of SCA3/MJD
5. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean
6. Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease
7. Spinocerebellar ataxia type 2 has multiple ancestral origins
8. Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease
9. Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
10. Variants in Genes of Calpain System as Modifiers of Spinocerebellar Ataxia Type 3 Phenotype
11. A model for the dynamics of expanded CAG repeat alleles: ATXN2 and ATXN3 as prototypes
12. BloodDDIT4andTRIM13transcript levels mark the early stages of Machado-Joseph disease
13. Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
14. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
15. Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
16. Spinocerebellar ataxia type 2 has multiple ancestral origins
17. A model for the dynamics of expanded CAG repeat alleles:ATXN2andATXN3as prototypes
18. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
19. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7
20. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil
21. Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
22. NTRK2 (TrkB gene) variants and temporal lobe epilepsy: A genetic association study
23. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
24. Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors
25. Reliability of speech assessments in spinocerebellar ataxia type 3/Machado-Joseph disease
26. Memory and brain-derived neurotrophic factor after subchronic or chronic amphetamine treatment in an animal model of mania
27. Machado Joseph-Disease Is Rare in the Peruvian Population
28. Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation
29. NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2
30. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil
31. Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
32. Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2
33. Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment
34. Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
35. Spinocerebellar Ataxia type 3 is rare in the Peruvian Population
36. Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease
37. Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3
38. Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence
39. Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase
40. Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease
41. Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado‐Joseph Disease.
42. Changes in Brain 14-3-3 Proteins in Response to Insulin Resistance Induced by a High Palatable Diet
43. Correction to: Selective Forces Related to Spinocerebellar Ataxia Type 2
44. Remote Measurement of Functional Status in Pre-symptomatic and Symptomatic Individuals with Machado-Joseph Disease
45. Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing
46. ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America
47. DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
48. Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes
49. No major clinical impact of Val66Met BDNF gene polymorphism on temporal lobe epilepsy
50. G01 Molecular testing for huntington disease and the risk of disclosure of unsolicited pre-symptomatic status: a recurring theme
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.