(Q35856149)

10 August 2017

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering (English)

1 reference

10 August 2017

Helen Griffin

2

0 references

Rita Horvath

object named as

Rita Horvath

series ordinal

8

0 references

Angela Pyle

series ordinal

6

object named as

Angela Pyle

1 reference

10 August 2017

7

Patrick F Chinnery

1 reference

10 August 2017

5

Gail Eglon

1 reference

10 August 2017

Konstantinos Douroudis

series ordinal

3

object named as

Konstantinos Douroudis

1 reference

10 August 2017

1

Daniyal Daud

1 reference

10 August 2017

4

Stephanie Kleinle

1 reference

10 August 2017

language of work or name

1 reference

10 May 2015

1 reference

10 August 2017

1 reference

10 August 2017

262

1 reference

10 August 2017

7

1 reference

10 August 2017

1673-1677

1 reference

Creative Commons Attribution 4.0 International

10 August 2017

start time

10 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Dynactin is required for transport initiation from the distal axon

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Elucidating the genetics and pathology of Perry syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Regulation of dynactin through the differential expression of p150Glued isoforms

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Mutant dynactin in motor neuron disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

Dynactin-membrane interaction is regulated by the C-terminal domains of p150(Glued).

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4503877

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-015-7755-Y

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-015-7755-Y

10.1007/S00415-015-7755-Y

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

25957632

1 reference