(Q44615423)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse (English)

1 reference

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20 December 2019

13

1 reference

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20 December 2019

Radhika Puttagunta

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Val C Sheffield

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Jamee M Bomar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Paul J Benke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Eric L Slattery

3

1 reference

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20 December 2019

Larry P Taylor

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Eunju Seong

6

1 reference

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20 December 2019

Arne Nystuen

7

1 reference

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20 December 2019

Weidong Chen

8

1 reference

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20 December 2019

Roger L Albin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Paresh D Patel

10

1 reference

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20 December 2019

Rick A Kittles

11

1 reference

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20 December 2019

language of work or name

English

0 references

publication date

12 October 2003

1 reference

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20 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

264-269

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1255

20 December 2019

exact match

0 references

cites work

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands

1 reference

7 January 2021

The Neurological Mouse Mutations Jittery and Hesitant Are Allelic and Map to the Region of Mouse Chromosome 10 Homologous to 19p13.3

1 reference

7 January 2021

The impact of L1 retrotransposons on the human genome

1 reference

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

7 January 2021

Adenovirus E1B 19 kDa and Bcl-2 proteins interact with a common set of cellular proteins

1 reference

7 January 2021

Nip21 gene expression reduces coxsackievirus B3 replication by promoting apoptotic cell death via a mitochondria-dependent pathway

1 reference

7 January 2021

Crystal structure of the human supernatant protein factor

1 reference

7 January 2021

Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein

1 reference

7 January 2021

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

1 reference

7 January 2021

Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints

1 reference

7 January 2021

Improved splice site detection in Genie

1 reference

7 January 2021

Prediction of complete gene structures in human genomic DNA

1 reference

7 January 2021

Regulation of basal corticotropin-releasing hormone and arginine vasopressin messenger ribonucleic acid expression in the paraventricular nucleus: effects of selective hypothalamic deafferentations

1 reference

7 January 2021

Neurological abnormalities in a knock-in mouse model of Huntington's disease

1 reference

7 January 2021

Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution

1 reference

7 January 2021

Enhanced genome annotation using structural profiles in the program 3D-PSSM

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1255

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14556008%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference