Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy (Q36094673)

12 August 2017

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy (English)

1 reference

X-linked myotubular myopathy

12 August 2017

1 reference

inferred from title

author name string

Christopher R Pierson

1

1 reference

12 August 2017

Pankaj B Agrawal

2

1 reference

12 August 2017

Jessica Blasko

3

1 reference

12 August 2017

Alan H Beggs

4

1 reference

12 August 2017

language of work or name

1 reference

29 May 2007

1 reference

12 August 2017

Neuromuscular Disorders

1 reference

12 August 2017

17

1 reference

12 August 2017

7

1 reference

12 August 2017

562-568

1 reference

X-linked myotubular and centronuclear myopathies

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

The function of Myostatin and strategies of Myostatin blockade-new hope for therapies aimed at promoting growth of 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=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

MTM1 mutations in X-linked myotubular 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=2043149

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular 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=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

X-linked myotubular myopathy: clinical and pathological findings in a family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Neonatal Myotubular Myopathy: Neuropathy and Failure of Postnatal Maturation of Fetal 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=2043149

X-linked recessive myotubular myopathy: I. Clinical and pathologic findings in a family

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Morphometric analysis of normal skeletal muscles in infancy, childhood and adolescence. An autopsy study

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Muscle histochemistry in myotubular (centronuclear) myopathy.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

X-linked myotubular myopathy with fatal neonatal asphyxia

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

Genotype-phenotype correlations in X-linked myotubular 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=2043149

Characterization of mutations in fifty North American patients with X-linked myotubular 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=2043149

Medical complications in long-term survivors with X-linked myotubular 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=2043149

Myotubular myopathy: morphological, immunohistochemical and clinical variation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2043149

X-linked myotubular myopathy in a family with three adult survivors

23 September 2018

1 reference

12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies

1 reference

12 December 2020

The histographic analysis of human muscle biopsies with regard to fiber types: 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis

1 reference

12 December 2020

Familial "myotubular" myopathy

1 reference

12 December 2020

Morphology of skeletal muscle in children. An assessment of normal growth and differentiation

1 reference

12 December 2020

Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy

1 reference

12 December 2020

10.1016/J.NMD.2007.03.010

Identifiers

DOI

1 reference

release_ybql633s2ne25li4dcvznwnk34

12 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ybql633s2ne25li4dcvznwnk34

24 November 2022

mapped directly with Wikidata item

1 reference

12 August 2017

PubMed publication ID

17537630

1 reference