Zaspopathy in a large classic late-onset distal myopathy family
about
Candidate-gene testing for orphan limb-girdle muscular dystrophiesAlp/Enigma family proteins cooperate in Z-disc formation and myofibril assemblyADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyMyofibrillar myopathiesDistal myopathies: from clinical classification to molecular understanding.[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement].Mononuclear muscle cells in Drosophila ovaries revealed by GFP protein trapsMyofibrillar myopathies: new developments.Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyDifferences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2."Z"eroing in on the role of Cypher in striated muscle function, signaling, and human disease.Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.Mutation in BAG3 causes severe dominant childhood muscular dystrophy.Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle.Cypher and Enigma homolog protein are essential for cardiac development and embryonic survivalLoss of enigma homolog protein results in dilated cardiomyopathy.Distinct muscle imaging patterns in myofibrillar myopathies.The costamere bridges sarcomeres to the sarcolemma in striated muscle.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Molecular pathology of myofibrillar myopathies.Myofibrillar myopathies.Lower limb radiology of distal myopathy due to the S60F myotilin mutation.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.Mitochondrial abnormalities in the myofibrillar myopathies.Muscle imaging in inherited and acquired muscle diseases.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.Overview of the Muscle Cytoskeleton.When myopathy breaks the rules: a late-onset distal presentation.ZASPopathy with childhood-onset distal myopathy.'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.Abnormal spontaneous activity in primary myopathic disorders.
P2860
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P2860
Zaspopathy in a large classic late-onset distal myopathy family
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
name
Zaspopathy in a large classic late-onset distal myopathy family
@ast
Zaspopathy in a large classic late-onset distal myopathy family
@en
Zaspopathy in a large classic late-onset distal myopathy family
@nl
type
label
Zaspopathy in a large classic late-onset distal myopathy family
@ast
Zaspopathy in a large classic late-onset distal myopathy family
@en
Zaspopathy in a large classic late-onset distal myopathy family
@nl
prefLabel
Zaspopathy in a large classic late-onset distal myopathy family
@ast
Zaspopathy in a large classic late-onset distal myopathy family
@en
Zaspopathy in a large classic late-onset distal myopathy family
@nl
P2093
P3181
P356
P1433
P1476
Zaspopathy in a large classic late-onset distal myopathy family
@en
P2093
G Faulkner
H Haravuori
K Talvinen
P304
P3181
P356
10.1093/BRAIN/AWM006
P407
P577
2007-06-01T00:00:00Z