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Publications by Osorio Abath Neto
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation
Canadian Journal of Neurological Sciences
Medicine
Neurology
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Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
Frontiers in Genetics
Genetics
Molecular Medicine
Drosophila Studies Support a Role for a Presynaptic Synaptotagmin Mutation in a Human Congenital Myasthenic Syndrome
PLoS ONE
Multidisciplinary
A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
DNA Polymerase Beta Null Mouse Embryonic Fibroblasts Harbor a Homozygous Null Mutation in DNA Polymerase Iota
DNA Repair
Biochemistry
Cell Biology
Molecular Biology
A Rare C.183_187dupCTCAC Mutation of the Acetylcholine Receptor CHRNE Gene in a South Asian Female With Congenital Myasthenic Syndrome: A Case Report
BMC Neurology
Medicine
Neurology
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
Congenital Myasthenic Syndrome Due to DOK7 Mutations in a Family From Chile
European Journal of Translational Myology
Orthopedics
Neurology
Sports Medicine
Cell Biology
Molecular Biology
Congenital Myasthenic Syndromes
Neurologic Clinics
Neurology
