(Q34332639)

English

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.

scientific article

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Oliver P Forman

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jennifer Stewart

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Cathryn S Mellersh

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Elsa Beltran

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

10 July 2012

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

55

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Annotation of the domestic dog genome sequence: finding the missing genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Comprehensive comparison of three commercial human whole-exome capture platforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Late onset of cerebellar abiotrophy in a boxer dog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Cerebellar cortical abiotrophy in Lagotto Romagnolo dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Spectrin mutations in spinocerebellar ataxia (SCA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

beta III spectrin binds to the Arp1 subunit of dynactin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Primer3 on the WWW for general users and for biologist programmers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

A new DNA sequence assembly program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Cerebellar Purkinje's cell degeneration and coat color dilution in a family of Rhodesian Ridgeback dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

6 July 2018

Cerebellar cortical degeneration in adult American Staffordshire Terriers

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-55

21 January 2018

Cerebellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-55

21 January 2018

Hereditary cerebellar degeneration in Scottish terriers

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-55

21 January 2018

Neonatal cerebellar ataxia in Coton de Tulear dogs

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-55

21 January 2018

A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2156-13-55

21 January 2018

Cerebellar cortical degeneration in two Azores Cattle Dog littermates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

27 October 2018

Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

27 October 2018

Cerebellar Degeneration in a Mature Staffordshire Terrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3413603

27 October 2018

Cerebellar degeneration in Old English Sheepdogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22781464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary cerebellar abiotrophy in Australian kelpie dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22781464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar Cortical Degeneration in Beagle Dogs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22781464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar cortical abiotrophy in a beagle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22781464

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2156-13-55

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781464%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

ResearchGate publication ID

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