Wladimir Bocca Vieira de Rezende Pinto
A5081085211- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Hereditary Neurological Disorders
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Peripheral Neuropathies and Disorders
- Muscle Physiology and Disorders
- Porphyrin Metabolism and Disorders
- RNA regulation and disease
- Myasthenia Gravis and Thymoma
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Folate and B Vitamins Research
- Heme Oxygenase-1 and Carbon Monoxide
- Cardiomyopathy and Myosin Studies
- Inflammatory Myopathies and Dermatomyositis
- Genetics and Neurodevelopmental Disorders
- Connective tissue disorders research
- Neurological disorders and treatments
- Autoimmune Neurological Disorders and Treatments
- Lysosomal Storage Disorders Research
- Botulinum Toxin and Related Neurological Disorders
- Neonatal Health and Biochemistry
Universidade Federal de São Paulo
2016-2025
Centro de Investigación Biomédica en Red
2020
Brighton and Sussex Medical School
2020
University Medical Center Utrecht
2020
Hospital Universitari i Politècnic La Fe
2020
Universidade de São Paulo
2020
Hospital das Clínicas da Universidade Federal de Minas Gerais
2020
Fundação de Apoio à Universidade Federal de São Paulo
2020
Sociedade Brasileira de Neurociências e Comportamento
2019
Neurology, Inc
2017
Myasthenia gravis (MG), an autoimmune neuromuscular disorder, may be a risk factor for severe COVID-19. We conducted observational retrospective study with 15 consecutive adult MG patients admitted COVID-19 at four hospitals in São Paulo, Brazil. Most hospitalized had courses of the disease: 87% were intensive care unit, 73% needed mechanical ventilation, and 30% died. Immunoglobulin use plasma exchange procedure safe. Immunosuppressive therapy seems to associated better outcomes, as it...
<h3>Objective</h3> To evaluate whether eculizumab helps patients with anti–acetylcholine receptor–positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status minimal manifestations (MM), we assessed patients9 throughout REGAIN (Safety and Efficacy Eculizumab in AChR+ Refractory Generalized Gravis) its open-label extension. <h3>Methods</h3> Patients who completed randomized controlled trial continued into...
To evaluate the effect of eculizumab on perceived fatigue in patients with anti-acetylcholine receptor antibody-positive, refractory, generalized myasthenia gravis (MG) using Quality Life Neurological Disorders (Neuro-QOL) Fatigue subscale, and to correlations between improvements Neuro-QOL other clinical endpoints.Neuro-QOL Fatigue, MG Activities Daily Living (MG-ADL), Quantitative (QMG), 15-item (MG-QOL15) scales were administered during phase 3, randomized, placebo-controlled REGAIN study...
The aim of the study was to report proportion homozygous and compound heterozygous variants in survival motor neuron 1 (SMN1) gene a large population patients with spinal muscular atrophy (SMA) correlate severity disease presence specific intragenic SMN1 SMN2 copy number.Four hundred fifty Brazilian SMA were included retrospective study, clinical data analyzed compared genetic data; number obtained by multiplex ligation-dependent probe amplification pathogenic next-generation sequencing.Four...
Background and purpose Spinal muscular atrophy (SMA) is the most important cause of motor neuron disease in childhood, continues to represent leading genetic infant death. Adulthood‐onset SMA (SMA type 4) rare, with few isolated cases reported. The objective present study was describe a cohort patients 4. Methods A cross‐sectional conducted characterize clinical, genetic, radiological neurophysiological features adulthood‐onset SMA. Correlation analysis functional assessment data performed....
To the Editor: Epigenetic modifications are reversible and heritable changes in DNA packing chromatin structure that can affect access of transcription factors gene expression without involving sequence. Genomic imprinting is an epigenetic mechanism which depends on parental origin (paternal or maternal). Approximately 60 imprinted genes have been identified mammals particularly implicated regulation fetal growth development, function placenta, postnatal behaviors [Lucifero et al., 2004]....
Mitochondrial diseases are complex disorders caused by nuclear or mitochondrial DNA mutations, leading to oxidative phosphorylation deficiency and excessive production of reactive oxygen species (ROS). While ROS have been well established in the pathogenesis these diseases, role nitrogen (RNS) remains unclear. In this study, we performed a quantitative analysis muscle fibers investigate relationship between protein nitration abnormalities (mitochondrial proliferation cytochrome-c oxidase...