Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy (Q30364996)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26718575%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy (English)

1 reference

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distal muscular dystrophy

3 March 2020

main subject

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8

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3 March 2020

Sanna Huovinen

11

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3 March 2020

Ryan L Davis

13

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3 March 2020

17

Kathryn North

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3 March 2020

18

Nigel Clarke

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author name string

Roula Ghaoui

1

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3 March 2020

Johanna Palmio

2

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3 March 2020

Janice Brewer

3

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3 March 2020

Monkol Lek

4

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3 March 2020

Merrilee Needham

5

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3 March 2020

Anni Evilä

6

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3 March 2020

Peter Hackman

7

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Sini Penttilä

9

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Anna Vihola

10

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3 March 2020

Mikaela Lindfors

12

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Leigh Waddell

14

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3 March 2020

Simran Kaur

15

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3 March 2020

Con Yiannikas

16

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3 March 2020

Daniel G MacArthur

19

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3 March 2020

Carolyn M Sue

20

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3 March 2020

Bjarne Udd

21

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3 March 2020

language of work or name

English

0 references

publication date

30 December 2015

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3 March 2020

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3 March 2020

volume

86

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3 March 2020

page(s)

391-398

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3 March 2020

issue

4

1 reference

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Cellular mechanotransduction relies on tension-induced and chaperone-assisted autophagy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

An integrated map of genetic variation from 1,092 human genomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Chaperone-assisted selective autophagy is essential for muscle maintenance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

BAG3 deficiency results in fulminant myopathy and early lethality

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Antisense downregulation of mutant huntingtin in a cell model.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4776089

Site-directed mutations within the core "alpha-crystallin" domain of the small heat-shock protein, human alphaB-crystallin, decrease molecular chaperone functions

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26718575

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000002324

1 reference

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3 March 2020

1 reference

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3 March 2020

1 reference