Search Results - "Serafini, Peter"
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A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
Published in Human molecular genetics (01-08-2014)“…Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the…”
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Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling
Published in Human molecular genetics (01-04-2014)“…Duchenne muscular dystrophy (DMD) is caused by a lack of the dystrophin protein and has no effective treatment at present. Zebrafish provide a powerful in vivo…”
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Characterization of zebrafish dysferlin by morpholino knockdown
Published in Biochemical and biophysical research communications (23-09-2011)“…► cDNAs of zebrafish dysferlin were cloned (6.3kb). ► The dysferlin expression was detected in skeletal muscle, heart and eye. ► Injection of antisense…”
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Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling
Published in Human molecular genetics (01-08-2015)Get full text
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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
Published in JCI insight (20-09-2018)“…Zebrafish are a powerful tool for studying muscle function owing to their high numbers of offspring, low maintenance costs, evolutionarily conserved muscle…”
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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
Published in JCI insight (20-09-2018)Get full text
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7
Abstract TP80: Innovative Use Of A Large Real-world Database For Identifying Stroke Survivors And Access To Rehabilitation In Primary Care In Brazil
Published in Stroke (1970) (01-02-2022)“…BackgroundAs the impact of stroke continues, the number of people who require rehabilitation close to their homes will also increase. Primary health care will…”
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THU-324 - Evaluating pruritus and fatigue in patients with treatment-refractory primary biliary cholangitis
Published in Journal of hepatology (01-06-2023)Get full text
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Evaluating pruritus and fatigue in patients with treatment-refractory primary biliary cholangitis
Published in Journal of hepatology (01-06-2023)Get full text
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Characterization of zebrafish dysferlin by morpholino knockout
Published in Biochemical and biophysical research communications (27-08-2011)“…Mutations in the gene encoding dysferlin cause two distinct muscular dystrophy phenotypes: Limb-girdle muscular dystrophy type 2B (LGMD-2B) and Miyoshi…”
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Custo-efetividade e impacto orçamentário da introdução do cabozantinibe no tratamento de carcinoma de células renais avançado no sistema de saúde suplementar no Brasil
Published in Jornal Brasileiro de economia da saúde (20-04-2020)“…Objetivo: Este trabalho teve por objetivo determinar o custo-efetividade e o impacto orçamentário do cabozantinibe para o sistema de saúde suplementar no…”
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