Search Results - "Becker, Michele Michelin"
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Why should a 5q spinal muscular atrophy neonatal screening program be started?
Published in Arquivos de neuro-psiquiatria (01-10-2024)“…Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are…”
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Evidence for Association Between OXTR Gene and ASD Clinical Phenotypes
Published in Journal of molecular neuroscience (01-06-2018)“…Autism spectrum disorder (ASD) is an early-onset neurodevelopmental disorder characterized by impairments in social behaviors and communication. Oxytocin and…”
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Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
Published in Arquivos de neuro-psiquiatria (01-01-2024)“…Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the . SMA-5q is characterized by…”
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Neonatal screening for spinal muscular atrophy: A pilot study in Brazil
Published in Genetics and molecular biology (01-01-2023)“…Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births…”
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Improvement of autism spectrum disorder symptoms in three children by using gastrin-releasing peptide
Published in Jornal de pediatria (01-05-2016)“…To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum disorder. Case…”
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Post-H1N1 vaccine acute disseminated encephalomyelitis
Published in Pediatrics international (01-06-2014)Get full text
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
Published in Jornal de pediatria (16-10-2024)“…Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy…”
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The role of β3 integrin gene variants in Autism Spectrum Disorders — Diagnosis and symptomatology
Published in Gene (10-12-2014)“…Autism Spectrum Disorders (ASDs) represent a group of very complex early-onset neurodevelopmental diseases. In this study, we analyzed 5 SNPs (rs2317385,…”
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The role of beta 3 integrin gene variants in Autism Spectrum Disorders - Diagnosis and symptomatology
Published in Gene (10-12-2014)“…Autism Spectrum Disorders (ASDs) represent a group of very complex early-onset neurodevelopmental diseases. In this study, we analyzed 5 SNPs (rs2317385,…”
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Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy
Published in Brain communications (2024)“…Abstract The identification of biomarkers for spinal muscular atrophy is crucial for predicting disease progression, severity, and response to new…”
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Improvement in Symptoms of Autism Spectrum Disorder in Children With the Use of Gastrin-Releasing Peptide: An Open Trial
Published in Clinical neuropharmacology (01-09-2016)“…The aim of this study was to determine the efficacy and tolerability of gastrin-releasing peptide (GRP) for core symptoms of autism spectrum disorder. This is…”
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Improvement of autism spectrum disorder symptoms in three children by using gastrin-releasing peptide
Published in Jornal de pediatria (01-05-2016)“…Objective: To evaluate the safety, tolerability and potential therapeutic effects of gastrin-releasing peptide in three children with autistic spectrum…”
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Psychomotor agitation and mood instability in patients with autism spectrum disorders: A possible effect of SLC6A4 gene?
Published in Research in autism spectrum disorders (01-06-2016)“…•Analyses of clinical symptoms are promising for ASD genetic studies.•The results suggest particular genetic effects for males.•The SNP rs1042173 was nominally…”
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Improvement of autism spectrum disorder symptoms in three children by using gastrin‐releasing peptide
Published in Jornal de Pediatria (Versão em Português) (01-05-2016)“…Objective: To evaluate the safety, tolerability and potential therapeutic effects of gastrin‐releasing peptide in three children with autistic spectrum…”
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Improvement of autism spectrum disorder symptoms in three children by using gastrin‐releasing peptide
Published in Jornal de Pediatria (Versão em Português) (01-05-2016)“…To evaluate the safety, tolerability and potential therapeutic effects of gastrin‐releasing peptide in three children with autistic spectrum disorder. Case…”
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Avances en el abordaje de la hipoxia neonatal
Published in Revista de neurologiá (2013)Get full text
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Foreign body in children’s airways
Published in Jornal de pneumologia (01-06-2003)Get full text
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