Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders (Q37555776)

21 August 2017

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders (English)

1 reference

Dominique Figarella-Branger

21 August 2017

0 references

reducing body myopathy

1 reference

based on heuristic

inferred from title

author

object named as

Dominique Figarella-Branger

0 references

Nathalie Streichenberger

object named as

Nathalie Streichenberger

0 references

Pascale Richard

0 references

Marc Bitoun

0 references

Montse Olivé

0 references

Gisèle Bonne

0 references

Michel Fardeau

1 reference

21 August 2017

Emmanuelle Lacène

1 reference

21 August 2017

Guy Brochier

1 reference

21 August 2017

Pascal Laforêt

1 reference

21 August 2017

Norma Beatriz Romero

1 reference

21 August 2017

Bernard Prudhon

1 reference

21 August 2017

Soledad Monges

1 reference

21 August 2017

Fabiana Lubieniecki

1 reference

21 August 2017

Edoardo Malfatti

1 reference

21 August 2017

Tanya Stojkovic

1 reference

21 August 2017

Thierry Maisonobe

1 reference

21 August 2017

Ana Lía Taratuto

1 reference

21 August 2017

Lucie Gueneau

1 reference

21 August 2017

Gabriel Vasquez

1 reference

21 August 2017

Maria Saccoliti

1 reference

21 August 2017

Marilena Alexianu

1 reference

21 August 2017

Joachim Schessl

1 reference

21 August 2017

Carsten Bonnemann

1 reference

21 August 2017

Bruno Eymard

1 reference

21 August 2017

language of work or name

1 reference

1 September 2013

1 reference

Journal of Neuropathology & Experimental Neurology

21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

1 reference

21 August 2017

833-845

1 reference

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Reducing bodies and myofibrillar myopathy features in FHL1 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=5210222

Mutations of the FHL1 gene cause Emery-Dreifuss 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=5210222

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

The LIM domain: from the cytoskeleton to the nucleus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Characterization of tissue-specific LIM domain protein (FHL1C) which is an alternatively spliced isoform of a human LIM-only protein (FHL1)

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Characterization of a brain-specific nuclear LIM domain protein (FHL1B) which is an alternatively spliced variant of FHL1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Characterization of two isoforms of the skeletal muscle LIM protein 1, SLIM1. Localization of SLIM1 at focal adhesions and the isoform slimmer in the nucleus of myoblasts and cytoplasm of myotubes suggests distinct roles in the cytoskeleton and [...]

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

6 September 2017

Reducing body myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Consequences of mutations within the C terminus of the FHL1 gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

KyoT3, an isoform of murine FHL1, associates with the transcription factor RBP-J and represses the RBP-J-mediated transactivation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210222

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1097%2FNEN.0B013E3182A23506

Adult onset reducing body myopathy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23965743

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital myopathy with ?reducing bodies? in muscle fibres

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23965743

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/NEN.0B013E3182A23506

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23965743

1 reference