A5000189276- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- CRISPR and Genetic Engineering
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Cellular Mechanics and Interactions
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cardiac Arrest and Resuscitation
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- RNA Research and Splicing
- Pharmacological Receptor Mechanisms and Effects
- Intensive Care Unit Cognitive Disorders
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Neuropharmacology Research
- Pneumothorax, Barotrauma, Emphysema
- Neurological and metabolic disorders
- Botulinum Toxin and Related Neurological Disorders
- Genomics and Rare Diseases
- Endoplasmic Reticulum Stress and Disease
- Peripheral Neuropathies and Disorders
- Autoimmune Neurological Disorders and Treatments
Universidade de São Paulo
2022-2025
Clinics Hospital of Ribeirão Preto
2022-2023
Universidade Federal do Paraná
2023
National Hospital for Neurology and Neurosurgery
2023
University College London
2023
Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence this newly reported disorder remain established. In study, we investigated the frequency GAA-FGF14 in large cohort Brazilian patients with unsolved adult-onset ataxia.We recruited 93 index genetically despite extensive genetic investigation genotyped locus. Patients were across 4 different regions Brazil.Of...
Abstract Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle countries (LMICs) with limited access diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked inequality hampers understanding of diversity hinders accurate all settings. We developed a cloud-based transcontinental...
Abstract Monoclonal gammopathy‐related peripheral neuropathies encompass a spectrum of clinical presentations in which the monoclonal protein directly damages tissues, including nervous system. Given prevalence both neuropathy and gammopathy general population, these conditions may overlap practice, posing challenge for clinicians determining causality. Therefore, comprehensive understanding primary syndromes their neurophysiological patterns is great importance accurate differential...
Abstract Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic remains scarce inconsistent middle-income countries such as Brazil. The lack public health policies enable feasible genetic the shortage specialists are main reasons process. We report our experience a...
X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical electrophysiological characterization of two Brazilian families.
The distal hereditary motor neuropathies (dHMN) encompass a group of peripheral nervous system disorders characterized by progressive predominant weakness and wasting, usually in length-dependent pattern. classical neurophysiological pattern is axonal neuropathy with chronic denervation/reinnervation on needle examination. Conduction block (CB) temporal dispersion (TD) are electrophysiological features classically associated acquired demyelinating neuropathies. Although they have rarely been...