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Muscular dystrophies
scientific article published on 01 March 2013
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Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
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25 February 2020
title
Muscular dystrophies
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
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25 February 2020
author
Eugenio Mercuri
series ordinal
1
1 reference
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Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
author name string
Francesco Muntoni
series ordinal
2
1 reference
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Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
language of work or name
English
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publication date
1 March 2013
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
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retrieved
25 February 2020
published in
The Lancet
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
volume
381
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
issue
9869
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
page(s)
845-860
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
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171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
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Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
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Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival
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The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article
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Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival
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7 January 2021
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Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.
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7 January 2021
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Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings
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7 January 2021
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The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009
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7 January 2021
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The congenital muscular dystrophies in 2004: a century of exciting progress
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7 January 2021
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An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype
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7 January 2021
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Glyc-O-genetics of Walker-Warburg syndrome
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7 January 2021
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
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7 January 2021
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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
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7 January 2021
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
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Crossref
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https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
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7 January 2021
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Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
1 reference
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7 January 2021
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Clinical and genetic heterogeneity in laminopathies.
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7 January 2021
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Facioscapulohumeral muscular dystrophy
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
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The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
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Crossref
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7 January 2021
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inferred from DOI database lookup
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
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Crossref
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7 January 2021
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inferred from DOI database lookup
The phenotype of limb-girdle muscular dystrophy type 2I
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
1 reference
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Crossref
reference URL
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7 January 2021
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High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
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Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
The muscular dystrophies
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac findings in congenital muscular dystrophies.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac involvement in muscular dystrophy: advances in diagnosis and therapy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary muscular dystrophies and the heart
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD).
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle MRI in inherited neuromuscular disorders: past, present, and future
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Use of skeletal muscle MRI in diagnosis and monitoring disease progression in Duchenne muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Endocrine aspects of Duchenne muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Preventive nasal ventilation in Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary prevention of sudden death in patients with lamin A/C gene mutations.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
'Unexpected' sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Bone mass development in patients with Duchenne and Becker muscular dystrophies: a 4-year clinical follow-up
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bone mineral density and bone metabolism in Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bone health in Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alendronate in the treatment of low bone mass in steroid-treated boys with Duchennes muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impact of bisphosphonates on survival for patients with Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bone: Use of bisphosphonates in children-proceed with caution
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
SEPN1-related myopathies: clinical course in a large cohort of patients
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Natural history of Ullrich congenital muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glucocorticoid corticosteroids for Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis and new treatments in muscular dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac assessment in duchenne and becker muscular dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autophagy induction rescues muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defective glycosylation in muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dystroglycanopathies: coming into focus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolic and signaling alterations in dystrophin-deficient hearts precede overt cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle membrane repair and inflammatory attack in dysferlinopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A New Role for the Muscle Repair Protein Dysferlin in Endothelial Cell Adhesion and Angiogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dysferlin and muscle membrane repair.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lipodystrophy and muscular dystrophy caused by PTRF mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic treatments in muscular dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recombinant MG53 protein modulates therapeutic cell membrane repair in treatment of muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitsugumin 53 (MG53) facilitates vesicle trafficking in striated muscle to contribute to cell membrane repair
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leaky ryanodine receptors in β-sarcoglycan deficient mice: a potential common defect in muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeting RNA to treat neuromuscular disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Overview on DMD exon skipping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Local dystrophin restoration with antisense oligonucleotide PRO051
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Systemic administration of PRO051 in Duchenne's muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Splice modulating therapies for human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual type of benign x-linked muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distal myopathies--new genetic entities expand diagnostic challenge
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distal muscular dystrophies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel titin mutation in adult-onset familial dilated cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961897-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0140-6736(12)61897-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
PubMed publication ID
23465426
1 reference
stated in
Europe PubMed Central
PubMed publication ID
23465426
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23465426%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 February 2020
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