A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
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Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human TissuesInvolvement of GluD2 in Fear-Conditioned Bradycardia in MiceDeletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansInferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Altered Actions of Memantine and NMDA-Induced Currents in a New Grid2-Deleted Mouse Line.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.A GluD Coming-Of-Age Story.Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.Deletion of the GluRδ2 Receptor in the Hotfoot Mouse Mutant Causes Granule Cell Loss, Delayed Purkinje Cell Death, and Reductions in Purkinje Cell Dendritic Tree Area.Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.Neurometabolic disorders: Five new things.Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.A Rare Syndrome of GRID2 Deletion in 2 Siblings.GRID2 a novel gene possibly associated with mevalonate kinase deficiency.Purkinje Cell Signaling Deficits in Animal Models of Ataxia.Glutamate receptor δ2 serum antibodies in pediatric opsoclonus myoclonus ataxia syndrome
P2860
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P2860
A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy.
description
2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2013 թվականի ապրիլին հրատարակված գիտական հոդված
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@ast
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@en
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@nl
type
label
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@ast
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@en
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@nl
prefLabel
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@ast
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@en
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@nl
P2093
P2860
P356
P1476
A homozygous deletion in GRID2 ...... cerebellar ataxia and atrophy.
@en
P2093
Arda Çetinkaya
Bilge Salanci
Dilek Aktas
G Eda Utine
Göknur Haliloğlu
Koray Boduroğlu
Mehmet Alikaşifoğlu
P Özlem Kiper
Yasemin Alanay
P2860
P304
P356
10.1177/0883073813484967
P577
2013-04-22T00:00:00Z