(Q59545957)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25265257%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy (English)

1 reference

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20 February 2020

1 reference

1 reference

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cognitive dysfunction

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inferred from title

author

Catherine Brunel-Guitton

6

1 reference

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20 February 2020

Keith van Haren

12

1 reference

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20 February 2020

Randal C Richardson

13

1 reference

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20 February 2020

Elisa Rahikkala

18

1 reference

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20 February 2020

Nella Junna

19

1 reference

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20 February 2020

Henna Tyynismaa

20

1 reference

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20 February 2020

30

Jacques L Michaud

1 reference

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20 February 2020

8

Elsa Rossignol

1 reference

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20 February 2020

26

Guy A Rouleau

1 reference

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20 February 2020

17

Kym M Boycott

1 reference

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20 February 2020

14

Joost Nicolai

1 reference

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20 February 2020

2

Myriam Srour

1 reference

20 February 2020

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Jean-Claude Décarie

7

object named as

Jean-Claude Décarie

1 reference

20 February 2020

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author name string

Jae-Ran Lee

1

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20 February 2020

So-Hee Lim

5

1 reference

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20 February 2020

Allison Schreiber

10

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20 February 2020

Rocio Moran

11

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20 February 2020

Inge Cuppen

21

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20 February 2020

Eunjoon Kim

27

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20 February 2020

Erik-Jan Kamsteeg

28

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20 February 2020

Tjitske Kleefstra

29

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20 February 2020

Doyoun Kim

3

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20 February 2020

Fadi F Hamdan

4

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20 February 2020

Grant A Mitchell

9

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20 February 2020

Karin M E J Oberndorff

15

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20 February 2020

Justin D Wagner

16

1 reference

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20 February 2020

Nienke E Verbeek

22

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20 February 2020

Connie T R M Stumpel

23

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20 February 2020

Michel A Willemsen

24

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20 February 2020

Sonja A de Munnik

25

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20 February 2020

publication date

27 November 2014

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20 February 2020

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20 February 2020

volume

36

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20 February 2020

issue

1

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20 February 2020

page(s)

69-78

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A method and server for predicting damaging missense mutations

20 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Modeling of loops in protein structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Mammalian Kinesin-3 motors are dimeric in vivo and move by processive motility upon release of autoinhibition.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Kinesin superfamily motor proteins and intracellular transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

AMPARs and synaptic plasticity: the last 25 years

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

The CC1-FHA tandem as a central hub for controlling the dimerization and activation of kinesin-3 KIF1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Switch-based mechanism of kinesin motors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Interaction between liprin-alpha and GIT1 is required for AMPA receptor targeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Characterization of the movement of the kinesin motor KIF1A in living cultured neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

KIF1A alternately uses two loops to bind microtubules

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

A processive single-headed motor: kinesin superfamily protein KIF1A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

AAA+ proteins: diversity in function, similarity in structure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Conversion of Unc104/KIF1A kinesin into a processive motor after dimerization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

The CC1-FHA dimer is essential for KIF1A-mediated axonal transport of synaptic vesicles in C. elegans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

A structural pathway for activation of the kinesin motor ATPase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22709

7 January 2021

Identifiers

DOI

10.1002/HUMU.22709

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25265257%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference