Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

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http://www.wikidata.org/entity/Q49052576
Pre-B Lymphocyte Protein 3 (VPREB3) Expression in the Adrenal Cortex: Precedent for non-Immunological Roles in Normal and Neoplastic Human TissuesPurkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.Altered Actions of Memantine and NMDA-Induced Currents in a New Grid2-Deleted Mouse Line.Systematic review of autosomal recessive ataxias and proposal for a classification.Lessons learned from additional research analyses of unsolved clinical exome cases.Are Type 1 metabotropic glutamate receptors a viable therapeutic target for the treatment of cerebellar ataxia?A GluD Coming-Of-Age Story.The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region.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.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.A Rare Syndrome of GRID2 Deletion in 2 Siblings.Purkinje Cell Signaling Deficits in Animal Models of Ataxia.
P2860

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

Item
http://www.wikidata.org/entity/Q49052576
description
2014 nî lūn-bûn
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Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@en
Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@nl
type
label
Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@en
Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@nl
prefLabel
Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@en
Early-onset autosomal recessiv ...... by homozygous GRID2 deletion.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Early-onset autosomal recessiv ...... d by homozygous GRID2 deletion
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921