(Q36852826)

16 August 2017

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening (English)

1 reference

16 August 2017

1 reference

5

S C Brown

1 reference

Cecilia Jimenez-Mallebrera

16 August 2017

object named as

C Jimenez-Mallebrera

2

0 references

author name string

J Kim

1

1 reference

16 August 2017

A R Foley

3

1 reference

16 August 2017

M Fernandez-Fuente

4

1 reference

16 August 2017

S Torelli

6

1 reference

16 August 2017

L Feng

7

1 reference

16 August 2017

C A Sewry

8

1 reference

16 August 2017

F Muntoni

9

1 reference

16 August 2017

8 November 2011

1 reference

16 August 2017

Neuromuscular Disorders

1 reference

16 August 2017

22

1 reference

16 August 2017

2

1 reference

16 August 2017

139-148

1 reference

Autosomal recessive Bethlem myopathy

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

The congenital muscular dystrophies in 2004: a century of exciting progress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

The basement membrane/basal lamina of skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

The history and future of the fluorescence activated cell sorter and flow cytometry: a view from Stanford

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

A comparative study of frozen-section immunoperoxidase and flow cytometry for immunophenotypic analysis of lymph node biopsies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Autosomal recessive inheritance of classic Bethlem myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

A refined diagnostic algorithm for Bethlem myopathy

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Ullrich disease due to deficiency of collagen VI in the sarcolemma

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Three novel collagen VI chains with high homology to the alpha3 chain

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Direct isolation of satellite cells for skeletal muscle regeneration.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3657173

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

4 December 2018

1 reference

12 December 2020

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

1 reference

12 December 2020

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

1 reference

12 December 2020

Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart

1 reference

12 December 2020

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

1 reference

12 December 2020

10.1016/J.NMD.2011.08.006

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

22075033

1 reference