389 results on '"Nucci, Anamarli"'
Search Results
2. Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant
3. CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort
4. Autonomic dysfunction is frequent and disabling in non-paraneoplastic sensory neuronopathies
5. Analysis of motor and respiratory function in Duchenne muscular dystrophy patients
6. Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia
7. Skeletal and cardiac function are correlated in dystrophinopathies: a study using cardiac MRI and the MFM scale
8. F-waves persistence in peripheral sensory syndromes
9. An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease
10. A novel splice-site SGCB mutation causing Limb-girdle muscular dystrophy type 2E in a Brazilian patient
11. Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy
12. Sensory neuronopathy heralding human T cell lymphotropic virus type I myelopathy
13. Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation
14. A novel phenotype Of Zika virus‐related neurological disease: Sensory neuronopathy
15. F-waves persistence in peripheral sensory syndromes.
16. Many names and a single disease: The plurality of the Sensory Neuronopathies
17. MRI Texture Analysis Reveals Deep Gray Nuclei Damage in Amyotrophic Lateral Sclerosis
18. Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
19. Human herpesvirus infections of the central nervous system: Laboratory diagnosis based on DNA detection by nested PCR in plasma and cerebrospinal fluid samples
20. Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion
21. Dysautonomia Is Frequent in Machado-Joseph Disease: Clinical and Neurophysiological Evaluation
22. Dorsal cutaneous branch of ulnar nerve: an appraisal on the anatomy, injuries and application of conduction velocity studies in diagnosis
23. Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities
24. A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich’s ataxia
25. A Novel Multisystem Proteinopathy Caused by a MissenseANXA11Variant
26. Genetic epidemiology of familial ALS in Brazil
27. Brain tumor-like lesion in Behçet disease
28. Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial
29. Motor Function Measure Scale (MFM): New Instrument for Follow-Up Brazilian Patients with Neuromuscular Disease
30. Dopa‐Responsive Parkinsonism in a Patient With HomozygousRFC1Expansions
31. Laryngeal electromyography in amyotrophic lateral sclerosis
32. Characterisation of ataxia in Sjogren’s syndrome
33. Brainstem Involvement in Sjögrenʼs Syndrome-Related Sensory Neuronopathy
34. PROSPECTIVE STUDY OF PERIPHERAL NEUROPATHY IN MACHADO–JOSEPH DISEASE
35. Progression of ataxia in patients with Machado-Joseph disease
36. Motor Nerve Hyperexcitability and Muscle Cramps in Machado-Joseph Disease
37. Muscle Excitability Abnormalities in Machado-Joseph Disease
38. MRI Shows Dorsal Lesions and Spinal Cord Atrophy in Chronic Sensory Neuronopathies
39. Chronic Pain in Machado-Joseph Disease: A Frequent and Disabling Symptom
40. Myositis with sensory neuronopathy
41. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum
42. Long-standing idiopathic hypoparathyroidism masking coexistent chronic inflammatory demyelinating polyneuropathy
43. Carpal tunnel syndrome with paracoccidioidomycosis
44. Sensory ataxia rating scale: Development and validation of a functional scale for patients with sensory neuronopathies
45. Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies
46. Clinical and molecular findings in a cohort of ANO5‐related myopathy
47. Miastenia Grave
48. Derek Denny-Brown: the man behind the ganglia
49. Consenso brasileiro sobre distrofia muscular de Duchenne, Parte 1 : diagnóstico, corticoterapia e perspectivas
50. Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients
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