Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. (Q34461438)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129173%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

review article

2 references

17 February 2023

1 reference

PubMed publication ID

21129173

title

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129173%20AND%20SRC:MED&resulttype=core&format=json

congenital structural myopathy

17 January 2020

main subject

2 references

19 December 2019

17 February 2023

premature termination codon

1 reference

signal transducing adaptor protein

14 September 2019

1 reference

tumor suppressor proteins

20 November 2019

1 reference

18 December 2019

1 reference

19 December 2019

1 reference

PubMed publication ID

21129173

centronuclear myopathy

1 reference

autosomal recessive centronuclear myopathy

inferred from abstract

1 reference

inferred from abstract

author

Johann Bohm

1

1 reference

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17 January 2020

author name string

Uluç Yiş

2

1 reference

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17 January 2020

Ragıp Ortaç

3

1 reference

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17 January 2020

Handan Cakmakçı

4

1 reference

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17 January 2020

Semra Hız Kurul

5

1 reference

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17 January 2020

Eray Dirik

6

1 reference

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17 January 2020

Jocelyn Laporte

7

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17 January 2020

publication date

3 December 2010

11 references

13 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

20 November 2019

28 November 2019

18 December 2019

19 December 2019

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17 January 2020

17 February 2023

Orphanet Journal of Rare Diseases

11 references

13 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

20 November 2019

28 November 2019

18 December 2019

19 December 2019

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17 January 2020

17 February 2023

5

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17 January 2020

page(s)

35

1 reference

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Creative Commons Attribution

17 January 2020

copyright license

10 references

13 March 2019

25 April 2019

20 June 2019

30 June 2019

14 September 2019

20 November 2019

28 November 2019

18 December 2019

19 December 2019

17 February 2023

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on focus list of Wikimedia project

ScienceSource

0 references

cites work

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3014877

Centronuclear (myotubular) myopathy

6 July 2018

1 reference

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

6 July 2018

1 reference

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Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes

6 July 2018

1 reference

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BAR, F-BAR (EFC) and ENTH/ANTH domains in the regulation of membrane-cytosol interfaces and membrane curvature

6 July 2018

1 reference

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Mutations in dynamin 2 cause dominant centronuclear myopathy

6 July 2018

1 reference

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X-linked myotubular and centronuclear myopathies

6 July 2018

1 reference

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Targeted deletion of the suppressor gene bin1/amphiphysin2 accentuates the neoplastic character of transformed mouse fibroblasts.

6 July 2018

1 reference

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Clinical and histologic findings in autosomal centronuclear myopathy

6 July 2018

1 reference

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The dynamin superfamily: universal membrane tubulation and fission molecules?

6 July 2018

1 reference

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Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

6 July 2018

1 reference

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Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle

6 July 2018

1 reference

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Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice

6 July 2018

1 reference

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Functional redundancy in the myotubularin family

6 July 2018

1 reference

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BIN1 is a novel MYC-interacting protein with features of a tumour suppressor

6 July 2018

1 reference

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

6 July 2018

1 reference

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The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

6 July 2018

1 reference

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Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

6 July 2018

1 reference

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Loss of heterozygosity and tumor suppressor activity of Bin1 in prostate carcinoma

27 October 2018

1 reference

12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

1 reference

12 December 2020

1 reference

12 December 2020

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-5-35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129173%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129173%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

21129173

1 reference