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Publications by O Cagney

Mutations in LAMB2 Causing a Severe Form of Synaptic Congenital Myasthenic Syndrome

Journal of Medical Genetics

English

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Congenital Myasthenic Syndrome Due to DOK7 Mutations in a Family From Chile

European Journal of Translational Myology

Sports Medicine

Molecular Biology

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Electrophysiological Study in Synaptic Congenital Myasthenic Syndrome: End-Plate Acetylcholinesterase Deficiency

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English

Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene

Child Neurology

English

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation

Canadian Journal of Neurological Sciences

English

ENU Induced Mutations Causing Congenital Cardiovascular Anomalies

Development (Cambridge)

Developmental Biology

Molecular Biology

English

Disease-Causing Mutations in Proteins: Structural Analysis of the CYP1b1 Mutations Causing Primary Congenital Glaucoma in Humans

Biophysical Journal

English

Congenital Myasthenic Syndromes

Neurologic Clinics

English

Congenital Myasthenic Syndromes

English

A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure

Frontiers in Pediatrics

English