(Q33685609)

28 July 2017

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

1 reference

28 July 2017

6

Volker Straub

1 reference

28 July 2017

3

Patrick F Chinnery

1 reference

28 July 2017

Fiona L M Norwood

1

1 reference

28 July 2017

Chris Harling

series ordinal

2

1 reference

28 July 2017

Michelle Eagle

series ordinal

4

1 reference

28 July 2017

Kate Bushby

series ordinal

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

18 September 2009

1 reference

28 July 2017

1 reference

28 July 2017

132

1 reference

28 July 2017

Pt 11

1 reference

28 July 2017

3175-3186

1 reference

Muscular dystrophies due to glycosylation defects

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

14 July 2018

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Estimating the prevalence of polymyositis and dermatomyositis from administrative data: age, sex and regional differences

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Prevalence of mitochondrial DNA disease in adults

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

The limb-girdle muscular dystrophies--diagnostic strategies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Congenital muscular dystrophies: new aspects of an expanding group of disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Prevalence of sporadic inclusion body myositis in Western Australia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Myasthenia gravis: a population based epidemiological study in Cambridgeshire, England

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Population frequencies of inherited neuromuscular diseases—A world survey

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

14 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

On the classification, natural history and treatment of the myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

Prevalence of myotonic dystrophy in Iceland

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038491

Calpain-3 mutations in Turkey

30 October 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP236

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

21 January 2018

1 reference

12 December 2020

Treatment of McArdle disease

1 reference

12 December 2020

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

1 reference

12 December 2020

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

1 reference

12 December 2020

Prevalence and incidence of Becker muscular dystrophy

1 reference

12 December 2020

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

1 reference

12 December 2020

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

1 reference

12 December 2020

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

1 reference

12 December 2020

Diagnosis and etiology of congenital muscular dystrophy

1 reference

12 December 2020

Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy in the Dutch population

1 reference

12 December 2020

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

12 December 2020

Limb-girdle muscular dystrophy in the United States

1 reference

12 December 2020

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP236

1 reference

28 July 2017

1 reference

28 July 2017

1 reference