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Publications by Osmar Norberto de Souza
Missense Mutations in DYT-TOR1A Dystonia
Neurology: Genetics
Neurology
Genetics
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Lipid Metabolic Stress in Development Defines Which Genetically-Susceptible DYT-TOR1A Mice Develop Disease
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Selected Missense Mutations Impair Frataxin Processing in Friedreich Ataxia
Annals of Clinical and Translational Neurology
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Disease-Causing Missense Mutations in Human DNA Helicase Disorders
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Analyzing Effects of Naturally Occurring Missense Mutations
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Modeling the Structural Consequences of BEST1 Missense Mutations
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A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia
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Development of Functional Assays for BRCA1 Missense Mutations
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Protein Stability and in Vivo Concentration of Missense Mutations in Phenylalanine Hydroxylase
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