(Q30403256)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623771%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

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

1 reference

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2 February 2020

7

1 reference

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2 February 2020

Antonio Trabacca

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623771%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Luciana Losito

9

1 reference

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2 February 2020

Marina Scarlato

10

1 reference

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2 February 2020

Sara Benedetti

11

1 reference

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2 February 2020

Elio Scarpini

12

1 reference

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2 February 2020

Nereo Bresolin

14

1 reference

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2 February 2020

Maria Teresa Bassi

15

1 reference

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2 February 2020

author name string

C Crimella

1

1 reference

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2 February 2020

C Baschirotto

2

1 reference

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2 February 2020

A Arnoldi

3

1 reference

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2 February 2020

A Tonelli

4

1 reference

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2 February 2020

E Tenderini

5

1 reference

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2 February 2020

G Airoldi

6

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2 February 2020

G Spinicci

13

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2 February 2020

publication date

21 June 2011

1 reference

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2 February 2020

1 reference

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2 February 2020

volume

82

1 reference

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2 February 2020

issue

2

1 reference

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2 February 2020

page(s)

157-164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623771%20AND%20SRC:MED&resulttype=core&format=json

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

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

The design plan of kinesin motors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Kinesin superfamily motor proteins and intracellular transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Kinesin molecular motors: transport pathways, receptors, and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Structure of a fast kinesin: implications for ATPase mechanism and interactions with microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

The role of microtubules in processive kinesin movement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Motor proteins of the kinesin family. Structures, variations, and nucleotide binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

A seven-helix coiled coil

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01717.X

10.1111/J.1399-0004.2011.01717.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623771%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference