Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.
about
Gait characteristics in a canine model of X-linked myotubular myopathyGermline mosaicism in X-linked myotubular myopathyMTM1 mutations in X-linked myotubular myopathyThe lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in miceA linkage study of a large pedigree with X linked centronuclear myopathy.X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker lociThe myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C miceGene therapy for inherited muscle diseases: where genetics meets rehabilitation medicine.Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathyMyotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.Muscle function in a canine model of X-linked myotubular myopathyEnzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.Centronuclear (myotubular) myopathy.Autosomal dominant centronuclear myopathy with unique clinical presentationsConsensus statement on standard of care for congenital myopathies.Gene therapy in monogenic congenital myopathies.
P2860
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P2860
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh-hant
name
Congenital centronuclear (myot ...... netic study in eight children.
@en
Congenital centronuclear (myot ...... netic study in eight children.
@nl
type
label
Congenital centronuclear (myot ...... netic study in eight children.
@en
Congenital centronuclear (myot ...... netic study in eight children.
@nl
prefLabel
Congenital centronuclear (myot ...... netic study in eight children.
@en
Congenital centronuclear (myot ...... netic study in eight children.
@nl
P2093
P356
P1433
P1476
Congenital centronuclear (myot ...... netic study in eight children.
@en
P2093
P304
P356
10.1093/BRAIN/108.4.941
P407
P478
108 ( Pt 4)
P577
1985-12-01T00:00:00Z