Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
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Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oDifferential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.Desminopathies: pathology and mechanisms.Distinct muscle imaging patterns in myofibrillar myopathies.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseMolecular pathology of myofibrillar myopathies.Lower limb radiology of distal myopathy due to the S60F myotilin mutation.Intermediate filament diseases: desminopathy.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Desmin-related myopathy.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Functional characterization of desmin mutant p.P419S.Reply to Brodehl et al.TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 April 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Phenotypic patterns of desmino ...... mutations in the desmin gene.
@en
Phenotypic patterns of desmino ...... mutations in the desmin gene.
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type
label
Phenotypic patterns of desmino ...... mutations in the desmin gene.
@en
Phenotypic patterns of desmino ...... mutations in the desmin gene.
@nl
prefLabel
Phenotypic patterns of desmino ...... mutations in the desmin gene.
@en
Phenotypic patterns of desmino ...... mutations in the desmin gene.
@nl
P2093
P2860
P1476
Phenotypic patterns of desmino ...... l mutations in the desmin gene
@en
P2093
Dirk Fischer
Francesc Miralles
Francesca Martínez
Isidre Ferrer
Juan Antonio Martínez Matos
Judith Armstrong
Laura Gonzalez
Lev Goldfarb
Michel Fardeau
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P304
P356
10.1016/J.NMD.2007.02.009
P577
2007-04-05T00:00:00Z