Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. - Wikidata - wikimedia - TriplyDB

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

http://www.wikidata.org/entity/Q42480362

about

Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy X-linked myopathy with excessive autophagy: a failure of self-eating LAMP2 microdeletions in patients with Danon disease.Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue LAMP-2 deficiency (Danon disease)Danon Disease Due to a Novel LAMP2 Microduplication.Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.Novel GNE mutations in two phenotypically distinct HIBM2 patients.Cystoid macular edema in a patient with Danon disease Autophagic vacuolar pathology in desminopathies.Late adult-onset of X-linked myopathy with excessive autophagy Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.Danon disease as a cause of autophagic vacuolar myopathy.Congenital myopathies--a comprehensive update of recent advancements.Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts Autophagy dysregulation in Danon disease.Integrative systems biology and networks in autophagy.Skeletal muscle, autophagy, and physical activity: the ménage à trois of metabolic regulation in health and disease.Danon disease: a phenotypic expression of LAMP-2 deficiency.A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.Juvenile autophagic vacuolar myopathy - a new entity or variant?The role of ultrastructural examination in storage diseases.Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.Recent advances in mitochondrial turnover during chronic muscle disuse.Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

P2860

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P2860

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.

http://www.wikidata.org/entity/Q42480362

description

2005 nî lūn-bûn

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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2005年论文

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2005年论文

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name

Autophagic vacuoles with sarco ...... isease and related myopathies.

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Autophagic vacuoles with sarco ...... isease and related myopathies.

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type

label

Autophagic vacuoles with sarco ...... isease and related myopathies.

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Autophagic vacuoles with sarco ...... isease and related myopathies.

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prefLabel

Autophagic vacuoles with sarco ...... isease and related myopathies.

@en

Autophagic vacuoles with sarco ...... isease and related myopathies.

@nl

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P1433

Journal of Neuropathology & Experimental Neurology

P1476

Autophagic vacuoles with sarco ...... isease and related myopathies.

@en

P2093

Chuanzhu Yan

http://www.w3.org/2001/XMLSchema#string

Eri Arikawa-Hirasawa

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Ichizo Nishino

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Ikuya Nonaka

http://www.w3.org/2001/XMLSchema#string

Kazuma Sugie

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Kurt von Figura

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Michio Hirano

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Mikihito Tanaka

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Paul Saftig

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Satoru Noguchi

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P2860

VAMP-7 mediates vesicular transport from endosomes to lysosomes

Dissection of autophagosome formation using Apg5-deficient mouse embryonic stem cells

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

Primary structure of dystrophin-related protein

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

Lysosomal membrane proteins

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

P304

513-522

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scholarly article

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10.1093/JNEN/64.6.513

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6

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64

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2005-06-01T00:00:00Z

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7765439

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15977643

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