Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases (Q37589611)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Annick Toutain

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Pascale Richard

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Rabah Ben Yaou

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Gisèle Bonne

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Tanya Stojkovic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Valérie Allamand

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

France Leturcq

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Henri-Marc Bécane

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Dominique Babuty

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Christophe Béroud

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Norma B Romero

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Bruno Eymard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

language of work or name

1 reference

1 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

Journal of neuromuscular diseases

27 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

229-240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

27 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Diagnostic approach to the congenital muscular dystrophies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Clinical and pathological heterogeneity in late-onset partial merosin deficiency

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5240538

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.3233%2FJND-150093

Atypical phenotype in two patients with LAMA2 mutations

21 January 2018

1 reference

12 December 2020

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

1 reference

12 December 2020

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

1 reference

12 December 2020

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study

1 reference

12 December 2020

Congenital muscular dystrophy with merosin deficiency

1 reference

12 December 2020

Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy

1 reference

12 December 2020

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: A chance association or a novel phenotype?

1 reference

12 December 2020

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up

1 reference

12 December 2020

A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy

1 reference

12 December 2020

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

1 reference

12 December 2020

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

12 December 2020

An atypical case of partial merosin deficiency congenital muscular dystrophy

1 reference

12 December 2020

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]

1 reference

12 December 2020

Identifiers

DOI

10.3233/JND-150093

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27858741%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

PubMed publication ID

27858741

1 reference