(Q36359231)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

neuromuscular junction

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Alan H. Beggs

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

James J Dowling

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sean E Low

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ashley N Durban

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nadia Messaddeq

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Xingli Li

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ashley N Dulin-Smith

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Andrew D Snyder

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Morgan L Marshall

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jordan T Marshall

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Anna Buj-Bello

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Christopher R Pierson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

24 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

Disease Models & Mechanisms

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

852-859

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

2 February 2020

copyright license

start time

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Treatment of myasthenia gravis: focus on pyridostigmine.

30 September 2017

1 reference

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T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

3,4-diaminopyridine for the treatment of Lambert-Eaton myasthenic syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Guidelines for treatment of autoimmune neuromuscular transmission disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Centronuclear (myotubular) myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Experimental autoimmune myasthenia gravis in the mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Endosomal phosphoinositides and human diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Membrane traffic and muscle: lessons from human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Neuregulins at the neuromuscular synapse: past, present, and future

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Running to stand still: ionotropic receptor dynamics at central and peripheral synapses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Myotubularin phosphatases: policing 3-phosphoinositides

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Mutations in dynamin 2 cause dominant centronuclear myopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

X-linked myotubular and centronuclear myopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Clinical evaluation and management of myasthenia gravis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Neuregulin-increased expression of acetylcholine receptor epsilon-subunit gene requires ErbB interaction with Shc.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

RYR1 mutations are a common cause of congenital myopathies with central nuclei

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Identification of nicotinic acetylcholine receptor recycling and its role in maintaining receptor density at the neuromuscular junction in vivo.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Neuregulin-induced expression of the acetylcholine receptor requires endocytosis of ErbB receptors

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Genotype-phenotype correlations in X-linked myotubular myopathy

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484867

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22645112

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1242/DMM.009746

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

22645112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22645112%20AND%20SRC:MED&resulttype=core&format=json