Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin (Q64039438)

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scientific article published on 25 April 2019

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English	Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin	scientific article published on 25 April 2019

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23 April 2020

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin (English)

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23 April 2020

Samantha J Bryen

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23 April 2020

Daniel G. MacArthur

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23 April 2020

Sandra T Cooper

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23 April 2020

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Lisa G Riley

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23 April 2020

Leigh B Waddell

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23 April 2020

Roula Ghaoui

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23 April 2020

Frances J Evesson

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23 April 2020

Beryl B Cummings

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23 April 2020

Himanshu Joshi

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23 April 2020

Min-Xia Wang

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23 April 2020

Susan Brammah

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23 April 2020

Leonard Kritharides

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23 April 2020

Alastair Corbett

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23 April 2020

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25 April 2019

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23 April 2020

European Journal of Human Genetics

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23 April 2020

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23 April 2020

8

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23 April 2020

1267-1273

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23 April 2020

Intermediate filament diseases: desminopathy.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Desminopathies: pathology and mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

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Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

1 reference

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7 January 2021

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Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

1 reference

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7 January 2021

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inferred from DOI database lookup

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

1 reference

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7 January 2021

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Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

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Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

1 reference

https://api.crossref.org/works/10.1038%2FS41431-019-0393-6

7 January 2021

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inferred from DOI database lookup

Identifiers

10.1038/S41431-019-0393-6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31024060%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31024060%20AND%20SRC:MED&resulttype=core&format=json

23 April 2020

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