(Q30553143)

19 August 2017

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans (English)

1 reference

19 August 2017

0 references

1 reference

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ganeshwaran H Mochida

16

object named as

Ganeshwaran H Mochida

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

L Benjamin Hills

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Amira Masri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kotaro Konno

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Wataru Kakegawa

4

1 reference

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31 May 2020

Anh-Thu N Lam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Elizabeth Lim-Melia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nandini Chandy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

R Sean Hill

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jennifer N Partlow

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Muna Al-Saffar

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ramzi Nasir

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Joan M Stoler

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

A James Barkovich

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Masahiko Watanabe

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

27 September 2013

1 reference

19 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

1378-1386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Characteristics of gait ataxia in δ2 glutamate receptor mutant mice, ho15J.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

The autosomal recessive cerebellar ataxias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Synaptic mechanisms of sensorimotor learning in the cerebellum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

D-serine regulates cerebellar LTD and motor coordination through the δ2 glutamate receptor.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

The Role of the Cerebellum in Cognition and Emotion: Personal Reflections Since 1982 on the Dysmetria of Thought Hypothesis, and Its Historical Evolution from Theory to Therapy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Trans-synaptic interaction of GluRdelta2 and Neurexin through Cbln1 mediates synapse formation in the cerebellum

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Cbln1 is a ligand for an orphan glutamate receptor delta2, a bidirectional synapse organizer.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

A developmental and genetic classification for midbrain-hindbrain malformations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Common fragile sites are conserved features of human and mouse chromosomes and relate to large active genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Ho15J: a new hotfoot allele in a hot spot in the gene encoding the delta2 glutamate receptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Mechanisms of common fragile site instability.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Paroxysmal tonic upgaze of childhood--a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Disorders of the Cerebellum: Ataxia, Dysmetria of Thought, and the Cerebellar Cognitive Affective Syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

The cerebellar cognitive affective syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Impaired parallel fiber-->Purkinje cell synapse stabilization during cerebellar development of mutant mice lacking the glutamate receptor delta2 subunit

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Differential localization of delta glutamate receptors in the rat cerebellum: coexpression with AMPA receptors in parallel fiber-spine synapses and absence from climbing fiber-spine synapses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

The rat delta-1 and delta-2 subunits extend the excitatory amino acid receptor family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Immunoprecipitation, immunoblotting, and immunocytochemistry studies suggest that glutamate receptor delta subunits form novel postsynaptic receptor complexes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Selective expression of the glutamate receptor channel delta 2 subunit in cerebellar Purkinje cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

A theory of cerebellar cortex

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Benign paroxysmal tonic upgaze of childhood

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Spectrum of neurodevelopmental disabilities in children with cerebellar malformations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Glutamate receptor δ2 is essential for input pathway-dependent regulation of synaptic AMPAR contents in cerebellar Purkinje cells.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Up-down asymmetry of cerebellar activation during vertical pursuit eye movements.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Disorders of cognitive and affective development in cerebellar malformations.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Oscillating Purkinje neuron activity causing involuntary eye movement in a mutant mouse deficient in the glutamate receptor delta2 subunit.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Hotfoot mouse mutations affect the delta 2 glutamate receptor gene and are allelic to lurcher.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806907

Light- and electron-microscopic localization of the glutamate receptor channel delta 2 subunit in the mouse Purkinje cell

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24078737

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182A841A3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24078737%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

24078737

1 reference