488 results on '"Marques, Wilson"'
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2. The GENESIS database and tools: A decade of discovery in Mendelian genomics
3. Neurological Manifestations in ATTRv Amyloidosis
4. Insights into the systematics of Afrotropical Laelius (Hymenoptera, Bethylidae): combining molecular and morphological data to associate dimorphic species
5. DNA methylation in regulatory elements of the FKBP5 and NR3C1 gene in mother-child binomials with depression
6. Chronic Neuropathic Pain in Leprosy
7. Primary Neural Leprosy
8. Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP)
9. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing
10. Nodular pulmonary amyloidosis as a trigger for the diagnosis of sjogren's syndrome
11. ATTR cardiomyopathy patients receiving anti-amyloid treatment may exhibit dissociation between cardiac 99mTc-Pyrophosphate uptake and cardiomyopathy progression
12. Involvement of cranial nerves in ATTR Ile127Val amyloidosis
13. Leprous neuropathy.
14. Focal slowing of nerve conduction velocity in leprosy patients unveiled through multisegmented nerve analysis.
15. Gene-based therapies for neuromuscular disorders
16. A self-calibration algorithm for satellite sensors based on vector observations
17. GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
18. Numerical Comparison Between Traffic Flow Models with and Without Adaptation Behavior
19. CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort
20. Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
21. Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases
22. Cranial nerve thinning distinguishes RFC1‐related disorder from other late‐onset ataxias
23. Sex differences in body composition and serum metabolome responses to sustained, physical training suggest enhanced fat oxidation in women compared with men
24. Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
25. Unveiling the clinical and electrophysiological profile of CMTX6: insights from two Brazilian families
26. Frequency of GAA-FGF14Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
27. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
28. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
29. Neuromuscular disease genetics in under-represented populations: increasing data diversity
30. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
31. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
32. A Multi-class Vehicular Flow Model for Aggressive Drivers
33. Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias.
34. Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
35. Phylogenetic insights on Mediterranean and Afrotropical Rhipicephalus species (Acari: Ixodida) based on mitochondrial DNA
36. Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition
37. Inter‐rater reliability of the Rasch‐modified medical research council scoring criteria for manual muscle testing in neuromuscular diseases
38. Nigrostriatal dysfunction in RFC1-related disorder/CANVAS
39. Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
40. Morphological and morphometric study of the superior vestibular nerve trunk in guinea pigs.
41. Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy
42. Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation
43. Voxel-Based Morphometry and Relaxometry Demonstrate Macro- and Microstructural Damages in Spinocerebellar Ataxia Type 3
44. Morphological and morphometric study of the superior vestibular nerve trunk in guinea pigs
45. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
46. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
47. RFC1 ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage
48. Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
49. Rayleigh-Brillouin scattering in binary mixtures of disparate-mass constituents: SF6-He, SF6- D2, and SF6- H2
50. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoudʼs Arthropathy
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