Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease (Q28236802)

13

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Peter De Jonghe

6

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Vincent Timmerman

15

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Stephan Züchner

1

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Kristien Verhoeven

4

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Sofia A. Oliveira

8

object named as

Sofia A Oliveira

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Jeffery M. Vance

object named as

Jeffery M Vance

16

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author name string

Maher Noureddine

2

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Marina Kennerson

3

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Kristl Claeys

5

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John Merory

7

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Marcy C Speer

9

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Judith E Stenger

10

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Gina Walizada

11

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Danqing Zhu

12

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Garth Nicholson

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

14

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language of work or name

English

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publication date

March 2005

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published in

Nature Genetics

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volume

37

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issue

3

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page(s)

289-94

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cites work

1 reference

https://api.crossref.org/works/10.1038/NG1514

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1514

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 April 2017

1 reference

Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding

21 April 2017

1 reference

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

21 April 2017

1 reference

Dynamin and its role in membrane fission

21 January 2018

1 reference

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

21 January 2018

1 reference

Dynamin2 and cortactin regulate actin assembly and filament organization.

21 January 2018

1 reference

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

21 January 2018

1 reference

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

The PH superfold: a structural scaffold for multiple functions

21 January 2018

1 reference

Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate.

21 January 2018

1 reference

Identification of the Binding Site for Acidic Phospholipids on the PH Domain of Dynamin: Implications for Stimulation of GTPase Activity

21 January 2018

1 reference

Effects of mutant rat dynamin on endocytosis

21 January 2018

1 reference

Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

21 January 2018

1 reference

Biochemical and immunochemical analysis of rat brain dynamin interaction with microtubules and organelles in vivo and in vitro

21 January 2018

1 reference

SH3-domain-containing proteins function at distinct steps in clathrin-coated vesicle formation

21 January 2018

1 reference

Dynamin: possible mechanism of "Pinchase" action

21 January 2018

1 reference

Domain structure and function of dynamin probed by limited proteolysis.

21 January 2018

1 reference

Importance of the pleckstrin homology domain of dynamin in clathrin-mediated endocytosis

21 January 2018

1 reference

Essential role of the dynamin pleckstrin homology domain in receptor-mediated endocytosis

21 January 2018

1 reference

Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain.

21 January 2018

1 reference

Synaptic vesicle endocytosis impaired by disruption of dynamin-SH3 domain interactions

21 January 2018

1 reference

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

Modeling of loops in protein structures

21 January 2018

1 reference

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

21 January 2018

1 reference

The many faces of Charcot-Marie-Tooth disease

21 January 2018

1 reference