about
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyPalladin interacts with SH3 domains of SPIN90 and Src and is required for Src-induced cytoskeletal remodelingELM--the database of eukaryotic linear motifsMyotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)Myotilin dynamics in cardiac and skeletal muscle cellsTargeting the sarcomere to correct muscle functionThe vertebrate muscle Z-disc: sarcomere anchor for structure and signallingBAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stressA class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathiesMyofibrillar myopathiesMutations in ZASP define a novel form of muscular dystrophy in humansAnalysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutationsTargeted Deletion of the Muscular Dystrophy Gene myotilin Does Not Perturb Muscle Structure or Function in Mice[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Myofibrillar myopathies: new developments.Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationRNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.Cardiac Z-disc signaling network.A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patientsCaenorhabditis elegans kettin, a large immunoglobulin-like repeat protein, binds to filamentous actin and provides mechanical stability to the contractile apparatuses in body wall muscle.Identification of novel tissue-specific genes by analysis of microarray databases: a human and mouse model.Two desmin gene mutations associated with myofibrillar myopathies in Polish familiesInfantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathyMutation in BAG3 causes severe dominant childhood muscular dystrophy.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Novel recessive myotilin mutation causes severe myofibrillar myopathy.Proteomic analysis of laser capture microscopy purified myotendinous junction regions from muscle sectionsReducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathyMolecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease.Diagnostic immunohistology of muscle diseases.Cardiac involvement in muscular dystrophies: molecular mechanisms.When contractile proteins go bad: the sarcomere and skeletal muscle disease.Electron microscopy in neuromuscular disorders.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in myotilin cause myofibrillar myopathy
@ast
Mutations in myotilin cause myofibrillar myopathy
@en
Mutations in myotilin cause myofibrillar myopathy
@nl
type
label
Mutations in myotilin cause myofibrillar myopathy
@ast
Mutations in myotilin cause myofibrillar myopathy
@en
Mutations in myotilin cause myofibrillar myopathy
@nl
prefLabel
Mutations in myotilin cause myofibrillar myopathy
@ast
Mutations in myotilin cause myofibrillar myopathy
@en
Mutations in myotilin cause myofibrillar myopathy
@nl
P3181
P1433
P1476
Mutations in myotilin cause myofibrillar myopathy
@en
P2093
Andrew G Engel
Duygu Selcen
P304
P3181
P356
10.1212/01.WNL.0000123576.74801.75
P407
P577
2004-04-27T00:00:00Z