Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Mallory C. Shields
Drosophila Studies Support a Role for a Presynaptic Synaptotagmin Mutation in a Human Congenital Myasthenic Syndrome
PLoS ONE
Multidisciplinary
Related publications
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome With a Homozygous Null Mutation
Canadian Journal of Neurological Sciences
Medicine
Neurology
Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
A Lambert-Eaton Myasthenic Syndrome Antigen Associated With Presynaptic Calcium Channels
Biochemical Society Transactions
Biochemistry
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
Mutations in LAMB2 Causing a Severe Form of Synaptic Congenital Myasthenic Syndrome
Journal of Medical Genetics
Genetics
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
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
A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
Frontiers in Pediatrics
Child Health
Pediatrics
Perinatology
A Novel C.676_677insG PHOX2B Mutation in Congenital Central Hypoventilation Syndrome
Journal of Clinical Sleep Medicine
Pulmonary
Neurology
Respiratory Medicine
