Paulo Victor Sgobbi de Souza
Universidade Federal de São Paulo(BR)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research, Amyotrophic Lateral Sclerosis Research, Hereditary Neurological Disorders
Most-Cited Works
- → Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks(2016)209 cited
- → Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes(2020)105 cited
- → Clinical and radiological profile of patients with spinal muscular atrophy type 4(2020)45 cited
- → Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment(2022)45 cited
- → Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy(2020)42 cited
- → GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes(2020)40 cited
- → Clinical and molecular findings in a cohort of ANO5‐related myopathy(2019)39 cited
- → Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study(2022)38 cited
- → Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2(2016)37 cited
- → Clinical and genetic basis of congenital myasthenic syndromes(2016)36 cited