(Q37168736)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19050726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19050726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

main subject

myofibrillar myopathy

1 reference

1

1 reference

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17 January 2020

Montse Olive

2

1 reference

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17 January 2020

Christine Stadelmann

4

1 reference

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17 January 2020

Frank van Landeghem

6

1 reference

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17 January 2020

10

Patrick F Chinnery

1 reference

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17 January 2020

author name string

Zagaa Odgerel

3

1 reference

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17 January 2020

Kerstin Irlbacher

5

1 reference

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17 January 2020

Munkhuu Bayarsaikhan

7

1 reference

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17 January 2020

Hee-Suk Lee

8

1 reference

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17 January 2020

Bertrand Goudeau

9

1 reference

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17 January 2020

David Hilton-Jones

12

1 reference

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17 January 2020

Maxwell S Damian

13

1 reference

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17 January 2020

Anna Kaminska

14

1 reference

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17 January 2020

Patrick Vicart

15

1 reference

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17 January 2020

Kate Bushby

16

1 reference

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17 January 2020

Marinos C Dalakas

17

1 reference

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17 January 2020

Nyamkhishig Sambuughin

18

1 reference

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17 January 2020

Isidro Ferrer

19

1 reference

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17 January 2020

Hans H Goebel

20

1 reference

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17 January 2020

Lev G Goldfarb

21

1 reference

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17 January 2020

Volker Straub

11

1 reference

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17 January 2020

publication date

3 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19050726%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

17 January 2020

published in

1 reference

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17 January 2020

volume

17

1 reference

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17 January 2020

issue

5

1 reference

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17 January 2020

page(s)

656-663

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.226

17 January 2020

exact match

0 references

cites work

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Filamins: promiscuous organizers of the cytoskeleton

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Mechanical response of single filamin A (ABP-280) molecules and its role in the actin cytoskeleton

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Structural and functional aspects of filamins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Filamins as integrators of cell mechanics and signalling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Molecular cloning of human ABPL, an actin-binding protein homologue

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2672961

27 June 2018

Myofibrillar myopathy

1 reference

12 December 2020

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

1 reference

12 December 2020

Mechanical unfolding of single filamin A (ABP-280) molecules detected by atomic force microscopy

1 reference

12 December 2020

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

12 December 2020

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype

1 reference

12 December 2020

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.226

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19050726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19050726%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

19050726

1 reference