(Q28259704)

Christine Van Broeckhoven

6

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20

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Els De Vriendt

8

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Albena Jordanova

4

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Peter De Jonghe

22

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Wim Robberecht

18

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Vincent Timmerman

23

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An Jacobs

9

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Veerle Van Gerwen

10

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Joy Irobi

1

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Ines Dierick

5

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Ludo Van Den Bosch

17

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Katrien Van Impe

2

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Jan Gettemans

21

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Kevin Talbot

object named as

Kevin Talbot

15

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author name string

Pavel Seeman

3

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Andrej Michalik

7

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Krist'l Vennekens

11

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Radim Mazanec

12

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Ivailo Tournev

13

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David Hilton-Jones

14

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Ivo Kremensky

16

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Joël Van Vandekerckhove

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

19

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language of work or name

English

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publication date

June 2004

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published in

Nature Genetics

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volume

36

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issue

6

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page(s)

597-601

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cites work

1 reference

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

21 April 2017

1 reference

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

21 April 2017

1 reference

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

21 April 2017

1 reference

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

21 April 2017

1 reference

Interaction of human HSP22 (HSPB8) with other small heat shock proteins

21 April 2017

1 reference

The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10

21 April 2017

1 reference

HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)

21 April 2017

1 reference

MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase

21 April 2017

1 reference

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 April 2017

1 reference

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

21 April 2017

1 reference

7 January 2021

A positive charge preservation at position 116 of alpha A-crystallin is critical for its structural and functional integrity.

1 reference

7 January 2021

Mutant dynactin in motor neuron disease.

1 reference

7 January 2021

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

1 reference

7 January 2021

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

1 reference

7 January 2021

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree

1 reference

7 January 2021

The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins

1 reference

7 January 2021

On the role of Hsp27 in regulating apoptosis

1 reference

7 January 2021

Genealogy of the alpha-crystallin--small heat-shock protein superfamily

1 reference

7 January 2021

Structure and function of small heat shock/alpha-crystallin proteins: established concepts and emerging ideas

1 reference

7 January 2021

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant

1 reference

7 January 2021

The alphaA-crystallin R116C mutant has a higher affinity for forming heteroaggregates with alphaB-crystallin

1 reference

7 January 2021

Hsp27 upregulation and phosphorylation is required for injured sensory and motor neuron survival.

1 reference

7 January 2021

The R116C mutation in alpha A-crystallin diminishes its protective ability against stress-induced lens epithelial cell apoptosis

1 reference

7 January 2021

The small heat shock protein alpha B-crystallin negatively regulates apoptosis during myogenic differentiation by inhibiting caspase-3 activation

1 reference

7 January 2021

Upregulation of HSP27 in a Transgenic Model of ALS

1 reference

7 January 2021

cDNA sequence of a human heat shock protein HSP27

1 reference

7 January 2021

The actin-binding properties of the Physarum actin-fragmin complex. Regulation by calcium, phospholipids, and phosphorylation.

1 reference

7 January 2021

SDS microslab linear gradient polyacrylamide gel electrophoresis

1 reference

7 January 2021