(Q28239405)

autosomal recessive centronuclear myopathy

inferred from title

1 reference

11

0 references

Carina Wallgren-Pettersson

5

object named as

Carina Wallgren-Pettersson

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Valérie Biancalana

9

object named as

Valérie Biancalana

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author name string

Anne-Sophie Nicot

1

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Anne Toussaint

2

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Valérie Tosch

3

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Christine Kretz

4

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Erik Iwarsson

6

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Helen Kingston

7

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Jean-Marie Garnier

8

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Anders Oldfors

10

0 references

Jocelyn Laporte

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

12

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language of work or name

English

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publication date

September 2007

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published in

Nature Genetics

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volume

39

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page(s)

1134-9

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issue

9

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cites work

1 reference

Mutations in dynamin 2 cause dominant centronuclear myopathy

21 April 2017

1 reference

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

21 April 2017

1 reference

The dynamin superfamily: universal membrane tubulation and fission molecules?

21 April 2017

1 reference

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

21 April 2017

1 reference

Regulation of Bin1 SH3 domain binding by phosphoinositides

21 April 2017

1 reference

Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila

21 April 2017

1 reference

Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle

21 April 2017

1 reference

Identification and characterization of a nerve terminal-enriched amphiphysin isoform

21 April 2017

1 reference

Structural analysis of the human BIN1 gene. Evidence for tissue-specific transcriptional regulation and alternate RNA splicing

21 April 2017

1 reference

BAR domains as sensors of membrane curvature: the amphiphysin BAR structure

21 April 2017

1 reference

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

21 April 2017

1 reference

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

21 April 2017

1 reference

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

21 April 2017

1 reference

Clinical and histologic findings in autosomal centronuclear myopathy

21 April 2017

1 reference

X-linked myotubular and centronuclear myopathies

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation

21 January 2018

1 reference

Mechanism for elimination of a tumor suppressor: aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma.

21 January 2018

1 reference

Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation.

21 January 2018

1 reference

A role for the putative tumor suppressor Bin1 in muscle cell differentiation

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

The BAR domain proteins: molding membranes in fission, fusion, and phagy

1 reference

7 January 2021

Losses of the tumor suppressor BIN1 in breast carcinoma are frequent and reflect deficits in programmed cell death capacity

1 reference

7 January 2021

Recurrent cytogenetic aberrations in central neurocytomas and their biological relevance.

1 reference

7 January 2021