Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy (Q33944189)

30 July 2017

title

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy (English)

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autosomal dominant distal myopathy

30 July 2017

main subject

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14

Peter Nürnberg

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30 July 2017

Sebahattin Cirak

1

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30 July 2017

Florian von Deimling

2

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30 July 2017

Shrikesh Sachdev

3

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30 July 2017

Wesley J Errington

4

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30 July 2017

Ralf Herrmann

5

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30 July 2017

Carsten Bönnemann

6

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30 July 2017

Knut Brockmann

7

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30 July 2017

Stephan Hinderlich

8

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30 July 2017

Tom H Lindner

9

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30 July 2017

Alice Steinbrecher

10

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30 July 2017

Katrin Hoffmann

11

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30 July 2017

Gilbert G Privé

12

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30 July 2017

Mark Hannink

13

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30 July 2017

Thomas Voit

15

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30 July 2017

language of work or name

English

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publication date

16 June 2010

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30 July 2017

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30 July 2017

volume

133

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30 July 2017

issue

Pt 7

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30 July 2017

page(s)

2123-2135

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Reference data for commonly used sensory and motor nerve conduction studies

30 July 2017

cites work

1 reference

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Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

5 July 2018

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A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells

5 July 2018

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Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments

5 July 2018

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Zaspopathy in a large classic late-onset distal myopathy family

5 July 2018

1 reference

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

5 July 2018

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Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin

5 July 2018

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5 July 2018

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Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

5 July 2018

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Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubiquitin ligase complex

5 July 2018

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5 July 2018

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Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity

5 July 2018

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5 July 2018

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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

5 July 2018

1 reference

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Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

5 July 2018

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

5 July 2018

1 reference

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Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex

5 July 2018

1 reference

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

TGF-beta inhibits muscle differentiation through functional repression of myogenic transcription factors by Smad3

5 July 2018

1 reference

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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

5 July 2018

1 reference

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Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

5 July 2018

1 reference

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Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Crystal structure of the BTB domain from PLZF

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Cloning and expression analysis of a novel salicylate suppressible gene, Hs-CUL-3, a member of cullin/Cdc53 family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

5 July 2018

1 reference

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

5 July 2018

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Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

5 July 2018

1 reference

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Drosophila kelch is an oligomeric ring canal actin organizer

5 July 2018

1 reference

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Parametric and nonparametric linkage analysis: a unified multipoint approach

5 July 2018

1 reference

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5 July 2018

1 reference

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5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Autosomal dominant distal myopathy: linkage to chromosome 14.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Hereditary distal myopathy with onset in early infancy. Observation of a family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2892937

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

Distal myopathy caused by homozygous missense mutations in the nebulin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ108

Genetic linkage of Welander distal myopathy to chromosome 2p13

21 January 2018

1 reference

12 December 2020

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

1 reference

12 December 2020

[Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy]

1 reference

12 December 2020

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

12 December 2020

GRR: graphical representation of relationship errors

1 reference

12 December 2020

Early onset chromosome 14-linked distal myopathy (Laing)

1 reference

12 December 2020

Study of nerve conduction and late responses in normal Chinese infants, children, and adults

1 reference

12 December 2020

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ108

1 reference

30 July 2017

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30 July 2017

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