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Movement Disorders (revue) - Curation (Ncbi)

Index « Keywords » - entrée « Receptors, Glycine (genetics) »
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Receptors, Glutamate (physiology) < Receptors, Glycine (genetics) < Receptors, Glycine (immunology)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 8.
Ident.Authors (with country if any)Title
000850 (2002) Marina A J. Tijssen [Pays-Bas] ; Monique N. Vergouwe ; J Gert Van Dijk ; Michelle Rees ; Rune R. Frants ; Peter BrownMajor and minor form of hereditary hyperekplexia.
000C71 (2003) Marina A J. Tijssen [Pays-Bas] ; Peter Brown ; David Macmanus ; Mary A. Mclean ; Charles DavieMagnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene.
001354 (2005) Eliecer Coto [Espagne] ; Daniel Armenta ; Raúl Espinosa ; Joaquín Argente ; M Nica G. Castro ; Victoria AlvarezRecessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
001C66 (2007) Rob J. Forsyth [Royaume-Uni] ; Artemis D. Gika ; Ieke Ginjaar ; Marina A J. TijssenA novel GLRA1 mutation in a recessive hyperekplexia pedigree.
002005 (2008) Hoon-Chul Kang [Corée du Sud] ; Su Jeong You ; Myung Jae Chey ; Jong Sam Baik ; Jong-Won Kim ; Chang-Seok KiIdentification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.
003553 (2012) Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. TijssenA new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
004B65 (1996) T. Gasser [Allemagne] ; B. Bereznai ; B. Müller ; R. Pruszak-Seel ; R. Damrich ; G. Deuschl ; W H OertelLinkage studies in alcohol-responsive myoclonic dystonia.
004C79 (1997) E S Simon [États-Unis]Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits.

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