(Q36040738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Congenital myopathy caused by a novel missense mutation in the CFL2 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

0 references

1 reference

10

1 reference

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31 January 2020

Charlotte W Ockeloen

1

1 reference

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31 January 2020

Alan H. Beggs

6

1 reference

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31 January 2020

author name string

H J Gilhuis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

R Pfundt

3

1 reference

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31 January 2020

E J Kamsteeg

4

1 reference

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31 January 2020

P B Agrawal

5

1 reference

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31 January 2020

A Dara Hama-Amin

7

1 reference

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31 January 2020

A Diekstra

8

1 reference

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31 January 2020

N V A M Knoers

9

1 reference

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31 January 2020

N van Alfen

11

1 reference

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31 January 2020

publication date

4 May 2012

1 reference

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31 January 2020

published in

Neuromuscular Disorders

1 reference

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31 January 2020

volume

22

1 reference

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31 January 2020

issue

7

1 reference

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31 January 2020

page(s)

632-639

1 reference

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Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

31 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

2 October 2017

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Neuromuscular imaging in inherited muscle diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

ADF/cofilin: a functional node in cell biology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Myofibrillar myopathies: a clinical and myopathological guide.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Pathological defects in congenital myopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Distinct muscle imaging patterns in myofibrillar myopathies.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

The ADF/cofilin family: actin-remodeling proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Pathology of congenital nemaline myopathy. A follow-up study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

A follow-up study of congenital non-progressive myopathies.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Expression of cofilin isoforms during development of mouse striated muscles.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Magnetic resonance imaging of muscle in nemaline myopathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3377783

Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22560515

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital nemaline myopathy. A clinical follow-up of twelve patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22560515

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NMD.2012.03.008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

22560515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22560515%20AND%20SRC:MED&resulttype=core&format=json