about
Form and function: the laminin family of heterotrimersAssignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyUllrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VICollagen VI related muscle disordersWalker-Warburg syndrome. Report of two cases.Diagnostic approach to the congenital muscular dystrophies.A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics.New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.Laminins and human disease.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.Magnetic resonance imaging of the kinked fetal brain stem: a sign of severe dysgenesisISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.The congenital muscular dystrophies: recent advances and molecular insights.The collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.Gene expression profiling of diaphragm muscle in alpha2-laminin (merosin)-deficient dy/dy dystrophic mice.Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.Sternohyoid muscle fatigue properties of dy/dy dystrophic mice, an animal model of merosin-deficient congenital muscular dystrophy.Perioperative considerations in Walker-Warburg syndrome.Congenital muscular dystrophy in Israeli families.Yayoi era mutation disrupts brain and muscle.Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy.Anaesthesia for a child with Walker-Warburg syndrome.Association of Duchenne muscular dystrophy with autism spectrum disorder.Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy
P2860
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P2860
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Congenital muscular dystrophies: 1997 update.
@en
type
label
Congenital muscular dystrophies: 1997 update.
@en
prefLabel
Congenital muscular dystrophies: 1997 update.
@en
P1476
Congenital muscular dystrophies: 1997 update.
@en
P2093
P356
10.1016/S0387-7604(97)00094-6
P577
1998-03-01T00:00:00Z