A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (Q34728529)

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

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1 March 2020

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

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23687351%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

autosomal recessive limb-girdle muscular dystrophy

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4

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1 March 2020

Sevim Erdem Özdamar

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1 March 2020

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Nilgun Cetin

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1 March 2020

Burcu Balci-Hayta

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1 March 2020

Hulya Gundesli

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1 March 2020

Nuhan Purali

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1 March 2020

Beril Talim

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1 March 2020

Ersin Tan

7

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1 March 2020

Duygu Selcen

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1 March 2020

Pervin Dincer

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1 March 2020

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18 May 2013

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1 March 2020

Journal of Medical Genetics

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1 March 2020

50

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1 March 2020

7

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1 March 2020

437-443

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1 March 2020

Limb-girdle muscular dystrophies--from genetics to molecular pathology

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Primary desminopathies

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Intermediate filament diseases: desminopathy.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Desmin-related neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Desmin splice variants causing cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Desmin myopathy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Binding of two desmin derivatives to the plasma membrane and the nuclear envelope of avian erythrocytes: evidence for a conserved site-specificity in intermediate filament-membrane interactions

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Myofibrillar myopathies

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Structure and assembly properties of the intermediate filament protein vimentin: the role of its head, rod and tail domains

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Nuclear lamins: building blocks of nuclear architecture

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

LINC complexes in health and disease

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Limb–girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

Specific Recognition of Coiled Coils by Infrared Spectroscopy: Analysis of the Three Structural Domains of Type III Intermediate Filament Proteins

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101487

21 January 2018

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10.1136/JMEDGENET-2012-101487

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23687351%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

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1 March 2020

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