Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
about
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cellsAbsence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12HILS1 is a spermatid-specific linker histone H1-like protein implicated in chromatin remodeling during mammalian spermiogenesisMutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationMultiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical originsDisruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsExpression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complexPrivate beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyStructure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophyCharacterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophyGenetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Making sense of the limb-girdle muscular dystrophies.Investigation of muscle disease.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Sarcoglycans in muscular dystrophy.Efficient identification of novel mutations in patients with limb girdle muscular dystrophyThe heart in limb girdle muscular dystrophy.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 familiesSarcoglycanopathies: molecular pathogenesis and therapeutic prospectsDysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury.Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.Progressive muscular dystrophy in alpha-sarcoglycan-deficient miceMembrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex.Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular DystrophySub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx miceOverexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient miceDesigning heart performance by gene transfer.Occult left ventricular dysfunction diagnosed by myocardial performance index in patients with limb girdle muscle dystrophy: A case control study.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Overview of the Muscle Cytoskeleton.Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton.Dystrophin in the nervous system.Recent advances in diagnosis of the childhood muscular dystrophies.Molecular basis of genetic heterogeneity: role of the clinical neurologist.A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice.Congenital Muscular Dystrophy Associated With Merosin Deficiency
P2860
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P2860
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@ast
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en-gb
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@nl
type
label
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@ast
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en-gb
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@nl
prefLabel
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@ast
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en-gb
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@nl
P2093
P356
P1433
P1476
Primary adhalinopathy: a commo ...... dystrophy of variable severity
@en
P2093
M Jeanpierre
P2888
P356
10.1038/NG0695-243
P407
P577
1995-06-01T00:00:00Z
P5875
P6179
1000316320