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MA, Bayly,
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MA, Bayly,
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
by
LB, Lomax
,
MA
,
Bayly
,
Hjalgrim, Helle
,
Møller, Rikke Steensbjerre
,
AM, Vlaar
,
KM, Aaberg
,
L, Gandolfo
Published in
Brain
(2013)
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Related Subjects
Adolescent
Adult
Ataxia/genetics
Child
Europe
Female
GOSR2
Humans
Male
Mutation/genetics
Myoclonic Epilepsies
North Sea
Phenotype
Progressive/genetics
Qb-SNARE Proteins/genetics
Young Adult
creatine kinase
electroencephalography
progressive myoclonus epilepsy
scoliosis
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