141 results on '"Pedroso, Jose Luiz"'
Search Results
2. The GENESIS database and tools: A decade of discovery in Mendelian genomics
3. Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation
4. Childhood-onset writer's cramp and cerebellar ataxia: A neurological conundrum
5. Spinocerebellar ataxia type 2 has multiple ancestral origins
6. Fragile X premutation mimicking late onset hereditary spastic paraplegia
7. Immune-mediated ataxias: Guide to clinicians
8. Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation
9. Combined assessment by transcranial sonography and Sniffin’ Sticks test has a similar diagnostic accuracy compared to brain SPECT for Parkinson's disease diagnosis.
10. Family history as a clue to the diagnosis of orofacial abnormal movements in a 30-year-old man
11. Natural history and epidemiology of the spinocerebellar ataxias: Insights from the first description to nowadays
12. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
13. Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
14. NDUFAF5 variants cause early onset Leigh syndrome
15. Complex movement disorders associated with DEAF1 gene mutation
16. Subacute hemichorea and asymmetrical basal ganglia abnormalities: An archetypal scenario for anti-CV2 encephalitis
17. Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation
18. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia
19. Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK
20. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
21. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
22. Rehabilitation of Ataxia
23. Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors
24. Functional ataxia in a specialized ataxia center
25. Structural signature in SCA1: clinical correlates, determinants and natural history
26. One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia
27. Movement disorders in hereditary spastic paraplegias.
28. Cervical and ocular vestibular evoked potentials in Machado–Joseph disease: Functional involvement of otolith pathways
29. Nigrostriatal dysfunction in RFC1-related disorder/CANVAS
30. Sjogren-Larsson Syndrome
31. Substantia nigra echogenicity and imaging of striatal dopamine transporters in Parkinson's disease: A cross-sectional study
32. Excessive fragmentary myoclonus in Machado–Joseph disease
33. Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients
34. Substantia nigra echogenicity is correlated with nigrostriatal impairment in Machado-Joseph disease
35. Cognitive impairment in Brazilian patients with Behçet's disease occurs independently of neurologic manifestation
36. Sleep disorders in Machado–Joseph disease: A dopamine transporter imaging study
37. Severity of restless legs syndrome is inversely correlated with echogenicity of the substantia nigra in different neurodegenerative movement disorders. A preliminary observation
38. Cognitive and olfactory deficits in Machado–Joseph disease: A dopamine transporter study
39. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
40. Epilepsy and Behçet's disease: Cortical and hippocampal involvement in Brazilian patients
41. Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy
42. Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation
43. DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
44. Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation
45. Huntington's disease as an unexpected cause of deafness with dystonia and chorea
46. The cerebellar form of acquired hepatocerebral degeneration: The hepatic ataxia
47. Late-onset hummingbird sign in a woman with fragile X premutation
48. Movement disorders in spinocerebellar ataxias
49. Facial grimacing and clinical correlates in spinocerebellar ataxia type 3
50. A Real-World Study of Cerebral 99mTc-TRODAT-1 Single-Photon Emission Computed Tomography (SPECT) Imaging of the Dopamine Transporter in Patients with Parkinson Disease from a Tertiary Hospital in Brazil
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