Mutations in the sarcoglycan genes in patients with myopathy
about
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsPrivate beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern ItalyrAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophyDefective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubesWalker-Warburg syndrome. Report of two cases.Identification of candidate genes for congenital splay leg in piglets by alternative analysis of DNA microarray data.The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.Making sense of the limb-girdle muscular dystrophies.The muscular dystrophies.Sarcoglycans in muscular dystrophy.Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.The molecular era of myology.Sarcoglycanopathies: molecular pathogenesis and therapeutic prospectsNatural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.Progressive muscular dystrophy in alpha-sarcoglycan-deficient miceGamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin.Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.Therapeutic possibilities in the autosomal recessive limb-girdle muscular dystrophies.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesSarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?Human dental pulp pluripotent-like stem cells promote wound healing and muscle regeneration.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.Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.gamma-Sarcoglycanopathy in two Palestinian-American siblings.Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy.Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.Electrophysiology of postsynaptic activation.Muscle biopsy.Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D.A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.Benign prognosis in idiopathic hyper-CK-emia.
P2860
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P2860
Mutations in the sarcoglycan genes in patients with myopathy
description
1997 nî lūn-bûn
@nan
1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the sarcoglycan genes in patients with myopathy
@ast
Mutations in the sarcoglycan genes in patients with myopathy
@en
Mutations in the sarcoglycan genes in patients with myopathy
@nl
type
label
Mutations in the sarcoglycan genes in patients with myopathy
@ast
Mutations in the sarcoglycan genes in patients with myopathy
@en
Mutations in the sarcoglycan genes in patients with myopathy
@nl
prefLabel
Mutations in the sarcoglycan genes in patients with myopathy
@ast
Mutations in the sarcoglycan genes in patients with myopathy
@en
Mutations in the sarcoglycan genes in patients with myopathy
@nl
P2093
P3181
P1476
Mutations in the sarcoglycan genes in patients with myopathy
@en
P2093
D J Duggan
E P Hoffman
J R Gorospe
P304
P3181
P356
10.1056/NEJM199702273360904
P407
P577
1997-02-01T00:00:00Z