Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
about
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patientsCaveolinopathies: from the biology of caveolin-3 to human diseasesLack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathyLimb-girdle muscular dystrophyCharacterisation of the dysferlin skeletal muscle promoterMyopathy of distal lower limbs: the clinical variant of MiyoshiCaveolin regulates endocytosis of the muscle repair protein, dysferlinQuantitation of the calcium and membrane binding properties of the C2 domains of dysferlinMouse behavioral tasks relevant to autism: phenotypes of 10 inbred strainsClinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.Molecular basis of muscular dystrophies.The molecular neuropathology of the muscular dystrophies: a review and update.Clinical and genetic aspects of distal myopathies.Antisense therapy in neurologyPreclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy.Lysosome fusion to the cell membrane is mediated by the dysferlin C2A domain in coronary arterial endothelial cells.Proteomic analysis of plasma membrane and secretory vesicles from human neutrophilsDysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.ANNIE: integrated de novo protein sequence annotation.Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane.Dysferlin deficiency and the development of cardiomyopathy in a mouse model of limb-girdle muscular dystrophy 2B.Translational research and therapeutic perspectives in dysferlinopathies.New developments in exon skipping and splice modulation therapies for neuromuscular diseases.Progress and challenges in diagnosis of dysferlinopathy.SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression.Dysferlin regulates cell adhesion in human monocytes.Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner.Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.The inflammatory reaction pattern distinguishes primary dysferlinopathies from idiopathic inflammatory myopathies: an important role for the membrane attack complex.Respiratory and cardiac function in japanese patients with dysferlinopathy.Histological and immunohistological changes of the skeletal muscles in older SJL/J mice.Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.Klinik und Genetik der Gliederg�rteldystrophien
P2860
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P2860
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
description
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1999
@ast
im September 1999 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1999/09/22)
@sk
vědecký článek publikovaný v roce 1999
@cs
wetenschappelijk artikel (gepubliceerd op 1999/09/22)
@nl
наукова стаття, опублікована у вересні 1999
@uk
مقالة علمية (نشرت في 22-9-1999)
@ar
name
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@ast
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@en
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@nl
type
label
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@ast
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@en
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@nl
prefLabel
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@ast
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@en
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@nl
P2093
P356
P1433
P1476
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy
@en
P2093
C. Matsuda
K. Arahata
R. H. Brown
Y. K. Hayashi
P304
P356
10.1212/WNL.53.5.1119
P407
P577
1999-09-22T00:00:00Z