(Q38612568)

4 September 2017

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome (English)

1 reference

4 September 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Britt Drogemoller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Colin J. Ross

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Wyeth Wasserman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Sylvie Langlois

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Bryan Sayson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Anne Swenerton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Clara Dm van Karnebeek

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

21 October 2015

1 reference

European Journal of Human Genetics

4 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

949-953

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2015.217

5 June 2020

exact match

0 references

cites work

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

A general framework for estimating the relative pathogenicity of human genetic variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

Diagnostic criteria and genetics of the PEHO syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

KIF1A mutation in a patient with progressive neurodegeneration.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867456

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26486474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26486474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26486474

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2015.217

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26486474%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference