Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
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Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutantsGFAP and its role in Alexander diseaseOrder and disorder in intermediate filament proteinsNebulin binding impedes mutant desmin filament assembly.Phosphorylation of NBR1 by GSK3 modulates protein aggregation.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 oTwo desmin gene mutations associated with myofibrillar myopathies in Polish familiesUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.The sarcomeric Z-disc and Z-discopathies.Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathyDesminopathies in muscle disease.Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.Desminopathies: pathology and mechanisms.Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.Insights into the beaded filament of the eye lens.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseMolecular pathology of myofibrillar myopathies.Intermediate filament diseases: desminopathy.Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy.Desmin-related myopathy.Desmosomes in the heart: a review of clinical and mechanistic analyses.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.The role of αB-crystallin in skeletal and cardiac muscle tissues.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Progressive skeletal myopathy, ...... ociated with desmin mutations.
@en
type
label
Progressive skeletal myopathy, ...... ociated with desmin mutations.
@en
prefLabel
Progressive skeletal myopathy, ...... ociated with desmin mutations.
@en
P2093
P1476
Progressive skeletal myopathy, ...... sociated with desmin mutations
@en
P2093
Ayush Dagvadorj
Bertrand Goudeau
James W Nagle
Kazuyo Takeda
Kumaraswamy Sivakumar
Kye-Yoon Park
Lev G Goldfarb
Marinos C Dalakas
Monique Simon-Casteras
Nyamkhishig Sambuughin
P304
P356
10.1016/S0960-8966(02)00271-7
P577
2003-03-01T00:00:00Z