Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. (Q49052576)

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scientific article published on 14 August 2014

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English	Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.	scientific article published on 14 August 2014

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12 March 2020

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

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12 March 2020

autosomal recessive cerebellar ataxia

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Frauke Coppieters

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12 March 2020

Elfride De Baere

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12 March 2020

Christian Van Nechel

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Christian Van Nechel

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12 March 2020

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Kristof Van Schil

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12 March 2020

Françoise Meire

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12 March 2020

Marcus Karlstetter

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12 March 2020

Miriam Bauwens

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12 March 2020

Hannah Verdin

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12 March 2020

Eva Scheiffert

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12 March 2020

Thomas Langmann

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12 March 2020

Nicolas Deconinck

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12 March 2020

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14 August 2014

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12 March 2020

Genetics in Medicine

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12 March 2020

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12 March 2020

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12 March 2020

291-299

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12 March 2020

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

The autosomal recessive cerebellar ataxias

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Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

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https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

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

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https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

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https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody

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A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta2.

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21 January 2018

Hot-foot murine mutation: behavioral effects and neuroanatomical alterations

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

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https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

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

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21 January 2018

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

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The delta2 glutamate receptor: a key molecule controlling synaptic plasticity and structure in Purkinje cells.

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

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21 January 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

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21 January 2018

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

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Accurate and objective copy number profiling using real-time quantitative PCR.

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

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21 January 2018

Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina

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https://api.crossref.org/works/10.1038%2FGIM.2014.95

21 January 2018

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

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21 January 2018

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

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21 January 2018

Orphan glutamate receptor delta1 subunit required for high-frequency hearing

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CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

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21 January 2018

Expression of mRNA for glutamate receptor subunits distinguishes the major classes of retinal neurons, but is less specific for individual cell types

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https://pubmed.ncbi.nlm.nih.gov/25122145

12 December 2020

based on heuristic

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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25122145

12 December 2020

based on heuristic

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The Glutamate Receptor Subunit δ1 Is Highly Expressed in Hair Cells of the Auditory and Vestibular Systems

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https://pubmed.ncbi.nlm.nih.gov/25122145

12 December 2020

based on heuristic

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Construction of a high-resolution genetic map encompassing the hotfoot locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/25122145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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