Limb-girdle muscular dystrophies - international collaborations for translational research (Q38795106)

6 September 2017

title

Limb-girdle muscular dystrophies - international collaborations for translational research (English)

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6 September 2017

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Volker Straub

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6 September 2017

Rachel Thompson

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6 September 2017

language of work or name

English

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publication date

1 April 2016

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6 September 2017

published in

Nature Reviews Neurology

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6 September 2017

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6 September 2017

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6 September 2017

page(s)

294-309

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On the classification, natural history and treatment of the myopathies

6 September 2017

cites work

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Myotilin is mutated in limb girdle muscular dystrophy 1A

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

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Caveolin-3 in muscular dystrophy

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

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Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

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Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

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A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

31 March 2020

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

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Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

31 March 2020

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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

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Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

31 March 2020

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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

31 March 2020

1 reference

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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

31 March 2020

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A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

31 March 2020

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Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

31 March 2020

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

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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

31 March 2020

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A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

31 March 2020

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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

31 March 2020

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

31 March 2020

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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

31 March 2020

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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

31 March 2020

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Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant

31 March 2020

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

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A dystroglycan mutation associated with limb-girdle muscular dystrophy.

31 March 2020

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Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

31 March 2020

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A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

31 March 2020

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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

31 March 2020

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Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

31 March 2020

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Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

31 March 2020

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Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

31 March 2020

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LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

31 March 2020

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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

31 March 2020

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The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy

31 March 2020

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Glycobiology of α-dystroglycan and muscular dystrophy

31 March 2020

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Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

31 March 2020

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Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

31 March 2020

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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

31 March 2020

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Expanding the phenotype of GMPPB mutations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Identification of genes for childhood heritable diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

A human rights approach to an international code of conduct for genomic and clinical data sharing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

The European Genome-phenome Archive of human data consented for biomedical research.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

The challenge for a European network of biobanks for rare diseases taken up by RD-Connect

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Guidelines for investigating causality of sequence variants in human disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

The Matchmaker Exchange: a platform for rare disease gene discovery

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

An update on RNA-targeting therapies for neuromuscular disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies

31 March 2020

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The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

International Charter of principles for sharing bio-specimens and data

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.35

Collaborating to bring new therapies to the patient--the TREAT-NMD model.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27033376

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27033376

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27033376

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRNEUROL.2016.35

1 reference

Dimensions Publication ID

6 September 2017

1025756359

0 references

1 reference