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Distrofia muscular congênita: estudo de 17 pacientes
(Universidade Federal de São Paulo (UNIFESP), 1987)
Fraqueza Muscular Na Infância E Síndrome Do Lactente Hipotônico: Guia Para Avaliação Clínica E Propedêutica Diagnóstica
(Universidade Federal de São Paulo (UNIFESP), 2017-06-29)
On daily practice, besides having a sedimented theoretical knowledge, a neurologist must be capable of executing and interpreting a thorough neurological exam, leading to a better disclosure of patient’s complaints. This ...
Neurodesenvolvimento e fenótipo cognitivo comportamental na síndrome kabuki
(Universidade Federal de São Paulo (UNIFESP), 2016-08-25)
Objective: To describe neurocognitive and behavioral aspects in pediatric patients diagnosed with Kabuki Syndrome, a rare genetic condition whose neurobehavioral phenotype is not well known and involves associations with ...
Estudo da variabilidade genética na miopatia central core: aperfeiçoando o screening de mutações no gene RYR1
(Universidade Federal de São Paulo (UNIFESP), 2014-08-31)
Introduction: Central core disease (CCD) is characterized by the presence of central core-like areas in muscle fibers. Patients with RYR-related CCD usually have mild or moderate axial and proximal weakness, hypotonia and ...