área de pesquisa
- -related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature
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GBE1 -related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes - Acute Hepatic Porphyria: Pathophysiological Basis of Neuromuscular Manifestations
- Acute hepatic porphyrias for the neurologist: current concepts and perspectives
- Adult-onset non-5q proximal spinal muscular atrophy: a comprehensive review
- Caracterização clínica e genética das atrofias musculares espinhais de predomínio proximal de início no adulto
- CARACTERIZAÇÃO CLÍNICA E GENÉTICA DAS NEUROPATIAS HEREDITÁRIAS SENSITIVO-MOTORAS DESMIELINIZANTES DE INÍCIO NA INFÂNCIA
- Caracterização clínica, epidemiológica, neurorradiológica e genética de pacientes com Síndrome FOSMN.
- Caroline Bittar Braune
- Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
- Clinical and radiological profile of patients with spinal muscular atrophy type 4
- Consistent improvement with eculizumab across muscle groups in myasthenia gravis
- COQ7-Related Juvenile-Onset Motor Neuronopathy: A New Pathogenetic Dysfunction Associated with Motor Neuron Disease
- Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
- Expanding the spectrum of TBK1-related disorders: Adult-onset non-5q spinal muscular atrophy
- Facial Onset Sensory and Motor Neuronopathy
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Factors associated with the severity of
COVID -19 outcomes in people with neuromuscular diseases: Data from the International NeuromuscularCOVID -19 Registry - From the diagnosis of a probable post-polio syndrome to spina bifida: A case report of a 49-year-old man
- Hereditary inclusion body myopathy: a clinical and genetic review
- Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B
- Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
- Late adult-onset Hereditary Sensory and Motor Neuropathy due to TECPR2 mutations
- Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes
- Motor neuron disease with leukodystrophy due to CSF1R mutation
- MR imaging of inherited myopathies: a review and proposal of imaging algorithms
- Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes
- Myasthenia gravis in the complex scenario of LRBA-related immune dysregulation
- Neuromuscular choristoma: a rare cause of congenital non-progressive lower limb amyotrophy
- Pesquisa translacional em miopatias relacionadas à atividade fisica
- Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
- Rapidly progressive bulbar-onset ALS due to SS18L1 mutation
- Registry of Transthyretin Amyloidosis in the State of São Paulo (REACT-SP)
- Teaching NeuroImages: Hopkins syndrome
- Teaching NeuroImages: Slowly progressive hypertrophic brachial plexopathy due to SEPT9 mutation
- The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients
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Whole¿Body MRI in Limb Girdle Muscular Dystrophy Type
R1 /2A : Correlation With Clinical Scores - Wladimir Bocca Vieira de Rezende Pinto