UNIGE document Scientific Article
previous document  unige:107724  next document
add to browser collection
Title

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Authors
Published in Journal of Medical Genetics. 2017, vol. 54, no. 7, p. 460-470
Abstract We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine.
Keywords Brain Diseases/drug therapy/geneticsHeterozygoteHumansMagnetic Resonance ImagingMemantine/therapeutic useMolecular Targeted TherapyMutation/geneticsNeuroimagingPhenotypeReceptorsN-Methyl-D-Aspartate/antagonists & inhibitors/genetics/metabolism
Identifiers
PMID: 28377535
Full text
Article (Published version) (1.8 MB) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Citation
(ISO format)
RANZA, Emmanuelle Nathalie, KORFF, Christian. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. In: Journal of Medical Genetics, 2017, vol. 54, n° 7, p. 460-470. doi: 10.1136/jmedgenet-2016-104509 https://archive-ouverte.unige.ch/unige:107724

154 hits

1 download

Update

Deposited on : 2018-09-13

Export document
Format :
Citation style :