(Q36884249)

16 August 2017

4 references

13 March 2019

25 April 2019

16 November 2019

11 December 2019

Primary desminopathies (English)

1 reference

16 August 2017

4 references

13 March 2019

25 April 2019

16 November 2019

11 December 2019

macromolecular substance

1 reference

16 November 2019

cytoskeletal proteins

1 reference

11 December 2019

Rolf Schröder

1

1 reference

PMCID

3922350

16 August 2017

Alexandra Vrabie

series ordinal

2

1 reference

PMCID

3922350

16 August 2017

Hans H Goebel

series ordinal

3

1 reference

16 August 2017

1 May 2007

1 reference

Journal of Cellular and Molecular Medicine

16 August 2017

5 references

16 August 2017

13 March 2019

25 April 2019

16 November 2019

11 December 2019

11

1 reference

16 August 2017

3

1 reference

16 August 2017

416-426

1 reference

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar 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=3922350

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Mutations in ZASP define a novel form of muscular dystrophy in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Myopathies associated with myosin heavy chain mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Mutations in myotilin cause myofibrillar 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=3922350

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Protein surplus myopathies and other rare congenital myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Progress in desmin-related myopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Association of mitochondria with plectin and desmin intermediate filaments in striated 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=3922350

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related 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=3922350

Missense mutations in desmin associated with familial cardiac and skeletal 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=3922350

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Expression of intermediate filament-associated proteins paranemin and synemin in chicken development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human 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=3922350

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3922350

Differences in the distribution of synemin, paranemin, and plectin in skeletal muscles of wild-type and desmin knock-out mice

4 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/17635637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17635637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/17635637

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1582-4934.2007.00057.X

1 reference

16 August 2017

1 reference

16 August 2017

1 reference

PMCID

3922350