147 results on '"França, Marcondes Cavalcante"'
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2. Cross-cultural adaptation and validation for the Brazilian population of the instrument Amyotrophic Lateral Sclerosis-Specific Quality of Life–Short Form (ALSSQOL-SF)
3. LUMINESCE, a Phase 3 Study of Satralizumab in Generalized Myasthenia Gravis (gMG): Baseline Characteristics (P10-11.015)
4. Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
5. Autonomic dysfunction is frequent and disabling in non-paraneoplastic sensory neuronopathies
6. Gene-based therapies for neuromuscular disorders
7. Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
8. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
9. An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease
10. Capillary electrophoresis tandem mass spectrometry determination of glutamic acid and homocysteine’s metabolites: Potential biomarkers of amyotrophic lateral sclerosis
11. Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.
12. Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition
13. O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil
14. A comparative study of cognitive and behavioral profiles between sporadic and type 8 amyotrophic lateral sclerosis.
15. Controversies and Clinical Applications of Non-Invasive Transspinal Magnetic Stimulation: A Critical Review and Exploratory Trial in Hereditary Spastic Paraplegia
16. RFC1 ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage
17. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia
18. Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation
19. Neuroimaging in Sensory Neuronopathy
20. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
21. Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage
22. Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
23. Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3
24. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
25. Is Ataxia an Underestimated Symptom of Huntington's Disease?
26. Dopa‐Responsive Parkinsonism in a Patient With HomozygousRFC1Expansions
27. A 5‐Year Longitudinal Clinical and Magnetic Resonance Imaging Study in Spinocerebellar Ataxia Type 3
28. Cerebellar degeneration in adult spinal muscular atrophy patients
29. Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach
30. Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
31. A journey through the history of Neurogenetics
32. Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3
33. SPG11-related parkinsonism: Clinical profile, molecular imaging and l -dopa response
34. S36. Neuropathic pain is common in sensory neuronopathy and may play a role in its diagnostic delay
35. S158. F wave persistence of the peroneal and tibial nerves in the differential diagnosis of sensory polyneuropathies and neuronopathies
36. F42. EMG findings in patients with limb-girdle muscular dystrophy due to heterozygous CAPN3 mutations
37. Multimodal Neuroimaging Analysis in Brazilian Patients with SYNE1 Ataxia (P1.070)
38. Cannabinoids in Neurology - Position paper from Scientific Departments from Brazilian Academy of Neurology
39. Transaxonal degenerations of cerebellar connections: the value of anatomical knowledge
40. Acute cerebellar ataxia: differential diagnosis and clinical approach
41. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy
42. Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1
43. Spontaneous intracranial hypotension and its complications
44. Definition and diagnosis of small fiber neuropathy: consensus from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology
45. Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities
46. Laryngeal Electromyography Techniques and Clinical Use.
47. Myotonic dystrophy type 1: frequency of ophthalmologic findings
48. Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation
49. Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis
50. An unusual cause of non-5q spinal muscular atrophy: DYNCH1-related disease
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