(Q28592271)

GOA release 2020-03-11

author

Anna Buj-Bello

1

0 references

Nadia Messaddeq

3

0 references

Jean-Louis Mandel

7

0 references

Vincent Laugel

2

object named as

Vincent Laugel

1 reference

31 January 2017

Hala Zahreddine

4

1 reference

31 January 2017

Jocelyn Laporte

5

1 reference

31 January 2017

Jean-Francois Pellissier

Proceedings of the National Academy of Sciences of the United States of America

6

1 reference

31 January 2017

language of work or name

English

0 references

publication date

12 November 2002

1 reference

31 January 2017

1 reference

31 January 2017

99

1 reference

31 January 2017

15060–15065

1 reference

31 January 2017

23

1 reference

31 January 2017

The myotubularin family: from genetic disease to phosphoinositide metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

MTM1 mutations in X-linked myotubular myopathy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Association of SET domain and myotubularin-related proteins modulates growth control

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

17 March 2017

1 reference

https://api.crossref.org/works/10.1073/PNAS.212498399

Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

The role of phosphoinositides in membrane transport

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Gene targeting restricted to mouse striated muscle lineage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Ultrastructural changes in human muscle fibres in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Centronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Medical complications in long-term survivors with X-linked myotubular myopathy.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

3-D Reconstructions for graphical databases of gene expression

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Impaired skeletal muscle maturation following neonatal neurectomy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524320

Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro

27 November 2018

1 reference

12 December 2020

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

1 reference

12 December 2020

Serum CK, calcium, magnesium, and oxidative phosphorylation in mdx mouse muscular dystrophy

1 reference

12 December 2020

Familial "myotubular" myopathy

1 reference

12 December 2020

Quantitative measurement of muscle strength in the mouse

1 reference

12 December 2020

Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies

1 reference

12 December 2020

Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy

1 reference

12 December 2020

The role of immunocytochemistry in congenital myopathies

1 reference

12 December 2020

Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.212498399

1 reference

2137103

ADS bibcode

2002PNAS...9915060B

0 references

2137103

1 reference

1 reference

1 reference