A5021921510- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Inflammatory Myopathies and Dermatomyositis
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Myasthenia Gravis and Thymoma
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Long-Term Effects of COVID-19
- Congenital heart defects research
- Cellular transport and secretion
- Peripheral Neuropathies and Disorders
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease and Spinal Disorders
- RNA Research and Splicing
- Multiple Sclerosis Research Studies
- Ion channel regulation and function
- Eosinophilic Disorders and Syndromes
- Skin Diseases and Diabetes
- Neurological and metabolic disorders
- COVID-19 Clinical Research Studies
- Leptospirosis research and findings
- Cell Adhesion Molecules Research
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2017-2025
Universidade de São Paulo
2017-2025
Centre for Life
2023
Newcastle University
2023
Johns Hopkins University
2023
National Institute of Neurological Disorders and Stroke
2023
University of Pittsburgh Medical Center
2023
Universidade Federal de São Paulo
2020
Hospital das Clínicas da Universidade Federal de Minas Gerais
2020
Universidade Brasil
2019
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...
ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing conditions may require special treatment be associated with worse outcomes. Notwithstanding, the role neurologists in is probably underrecognized. Objective: The aim this study was report reasons for requesting consultations by internists intensivists a COVID-19-dedicated hospital. Methods: This retrospective carried out at...
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with SMN1 gene and manifesting at birth. Most patients die in first weeks life. In this work, we present 3 SMA who survived >1 year presented diffuse progressive brain abnormalities on magnetic resonance imaging, which are not usually seen SMA. Thus, involvement may likely be full end manifestation an already extreme phenotype caused by substantial reduction SMN protein brain. ANN NEUROL 2019;86:458-462.
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...
Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out these 4 conditions the same pedigree. calcium-dependent phospholipid-binding protein annexin A11 recently associated ALS European pedigrees. Herein, we...
Background: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from severe, congenital type to milder, late-onset form. However, the disease does not only affect muscles, but has systemic involvement can lead alterations such as brain malformation, epilepsy intellectual disability. Objective: Describe frequency of cortical malformations, disability LAMA2-RD Brazilian cohort correlate neurological findings genetic motor function. Methods: This...
Biallelic pathogenic variants at TK2 lead to a severe and progressive myopathy (TK2d). For disease with unspecific clinical findings, the possibility of supplementation therapy that changes natural history disease, highlighting features increase suspicion accelerate diagnosis is essential. Clinical genetic findings 36 Brazilian patients TK2d were identified presented in this work. Genotype-phenotype correlation was performed for recurrent novel variants. Motor respiratory assessments...
Abstract Objective ANO5 ‐related myopathy is an important cause of limb‐girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, the burden disease worldwide unclear. We provide a detailed characterization large Brazilian cohort patients. Methods A national cross‐sectional study was conducted to describe clinical, histopathological, radiological, molecular features patients carrying recessive variants in . Correlation clinical genetic...
BackgroundSpinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and disability.ObjectiveThis study aims to report the evaluation of nusinersen, an antisense oligonucleotide, on function in patients SMA types 2 3.MethodsThis single-center retrospective observational assessed nusinersen therapy outcomes, measured by HSMFSE or CHOP-INTEND scales, 3, compared untreated patients, for at least 24 months.ResultsA total 41 3 under treatment were...
Nemaline myopathy (NM) is a genetically heterogeneous inherited related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by (NM-NEB) very broad, ranging from mild to severe presentations manifesting generalized weakness, as well respiratory and bulbar involvement. There currently not enough data regarding progression disease. In this study, we present genotypic phenotypic 33 patients classified according age...
Hypokalaemic periodic paralysis is a rare genetic neuromuscular disease characterized by episodes of skeletal muscle associated with low serum potassium. Muscle fibre inexcitability during attacks due to an aberrant depolarizing leak current through mutant voltage sensing domains either the sarcolemmal voltage-gated calcium or sodium channel. We report child hypokalaemic and CNS involvement, including seizures, but without mutations in known genes. identified novel heterozygous de novo...
To present phenotype features of a large cohort congenital myasthenic syndromes (CMS) and correlate them with their molecular diagnosis.Suspected CMS patients were divided into three groups: group A (limb, bulbar or axial weakness, without ocular impairment, all the following: clinical fatigability, electrophysiology compatible neuromuscular junction involvement anticholinesterase agents response), B at least one additional characteristics noted in A) C (pure syndrome). Individual findings...
<h3>Background and Objectives</h3> Pathogenic variants in the valosin-containing protein (<i>VCP</i>) gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease, Paget disease of bone, frontotemporal dementia, parkinsonism termed multisystem proteinopathy. This hallmark pleiotropy makes classification novel <i>VCP</i> challenging. retrospective study describes assesses effect 19 or nonpreviously clinically characterized identified 28 patients (26...
Introduction Inflammatory myopathy with mitochondrial pathology (IM-Mito) is a rare condition described in few case series, and it not clear whether specific disease or variant of Inclusion Body Myositis (IBM). Radiological data IM-Mito patients has only been evaluated one study. Aim To analyze whole-body muscle magnetic resonance imaging (MRI) features compared individuals IBM. Methods Fourteen ten IBM were included. was defined by endomysial inflammatory infiltrate, presence at least 1%...
ABSTRACT Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence spinal deformity. Nusinersen an antisense oligonucleotide that increases SMN protein level and administrated by intrathecal lumbar injections. Thus, deformities previous surgery are important challenges for drug delivery in SMA. Objective: To report imaging methods used injection SMA patients. Methods: procedures types 2 3 patients who had were analyzed...