(Q34079297)

25008398

30 July 2017

title

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

1 reference

30 July 2017

4

1 reference

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11 June 2020

Zane Jaunmuktane

5

1 reference

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11 June 2020

Christos Proukakis

11

1 reference

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11 June 2020

16

Mary M Reilly

1 reference

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11 June 2020

Michaela Auer-Grumbach

13

object named as

Michaela Auer-Grumbach

1 reference

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11 June 2020

Sebastian Brandner

6

1 reference

ORCID Public Data File 2021

Mary G. Sweeney

10

object named as

Mary G Sweeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25008398%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Yo-Tsen Liu

1

1 reference

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11 June 2020

Matilde Laurá

2

1 reference

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11 June 2020

Joshua Hersheson

3

1 reference

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11 June 2020

Alan Pittman

7

1 reference

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11 June 2020

Deborah Hughes

8

1 reference

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11 June 2020

James M Polke

9

1 reference

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11 June 2020

John C Janssen

12

1 reference

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11 June 2020

Kevin G Shields

15

1 reference

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11 June 2020

Henry Houlden

17

1 reference

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11 June 2020

Stephan Zuchner

14

1 reference

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11 June 2020

language of work or name

English

0 references

publication date

9 July 2014

1 reference

30 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25008398%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

83

1 reference

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11 June 2020

issue

7

1 reference

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11 June 2020

page(s)

612-619

1 reference

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GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Kinesin superfamily motor proteins and intracellular transport

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

New movements in neurofilament transport, turnover and disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Cargo-carrying motor vehicles on the neuronal highway: transport pathways and neurodegenerative disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Chromosomal localization reveals three kinesin heavy chain genes in mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4141994

SPG10 is a rare cause of spastic paraplegia in European families

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25008398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25008398

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000691

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25008398%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25008398%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

25008398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25008398%20AND%20SRC:MED&resulttype=core&format=json