Search Results - "Sampaio, Gabriela Palhares Campolina"
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Brazilian version of the Hammersmith Functional Motor Scale Expanded: cross-cultural adaptation and validation
Published in Arquivos de neuro-psiquiatria (01-07-2024)“…The Hammersmith Functional Motor Scale Expanded (HFMSE) has been widely used to assess the motor function of patients with spinal muscular atrophy (SMA) older…”
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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
Published in Neurology. Genetics (01-10-2020)“…The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 ( ) gene in a large…”
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The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil
Published in Arquivos de neuro-psiquiatria (01-11-2016)“…The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. The scale was…”
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Journal Article