163 results on '"Jardim, Laura B."'
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2. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
3. Machado Joseph-Disease Is Rare in the Peruvian Population
4. Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
5. Huntington's disease-like disorders in Latin America and the Caribbean
6. ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
7. Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7
8. Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and Rosuvastatin
9. Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
10. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes
11. Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation
12. Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
13. Machado Joseph-Disease Is Rare in the Peruvian Population
14. Spinocerebellar Ataxia type 3 is rare in the Peruvian Population
15. Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
16. Sequence Analysis of 5′ Regulatory Regions of the Machado–Joseph Disease Gene (ATXN3)
17. CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
18. Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy
19. Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy
20. Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo’s oil effect
21. The APOE ε2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
22. CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3
23. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
24. Huntingtonʼs disease-like 2 and apparent ancestry
25. Cis-acting factors promoting the CAG intergenerational instability in Machado–Joseph disease
26. Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
27. Impaired P50 sensory gating in Machado-Joseph disease
28. Neurologic Findings in Machado-Joseph Disease: Relation With Disease Duration, Subtypes, and (CAG)n
29. Protracted Course of Krabbe Disease in an Adult Patient Bearing a Novel Mutation
30. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
31. Concerning to Schirinzi et al ., Natural history of a cohort of ABCD 1 variant female carriers
32. CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
33. Population-specific genetic modification of Huntington's disease in Venezuela
34. Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch
35. In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients
36. Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes
37. Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients
38. Protective effect of antioxidants on DNA damage in leukocytes from X‐linked adrenoleukodystrophy patients
39. Neuronal ceroid lipofuscinoses: a clinical and morphological study of 17 patients from Southern Brazil
40. Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians
41. Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich
42. The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy
43. Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
44. Akathisia: An unusual movement disorder in Machado–Joseph disease
45. Response to Tumas et al.
46. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
47. Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo’s oil effect
48. Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X‐linked adrenoleukodystrophy
49. White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up
50. S100B and NSE serum concentrations in Machado Joseph disease
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