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1  gene TRIP4 have been associated with SMA or congenital myopathy.
2 myotonia, periodic paralysis, myasthenia, or congenital myopathy.
3 ions should be considered in patients with a congenital myopathy.
4 individuals from six unrelated kindreds with congenital myopathy.
5  mutation in a family clinically manifesting congenital myopathy.
6 pathy (NM) is the most common non-dystrophic congenital myopathy.
7 lin-2, which is mutated in two siblings with congenital myopathy.
8  of genomic DNA from 37 patients with severe congenital myopathy.
9 ich were identified in a child with a severe congenital myopathy.
10 affecting DST-b cause an autosomal recessive congenital myopathy.
11  is the main cause of death in patients with congenital myopathy.
12 variants of this protein have been linked to congenital myopathy.
13 hen designing gene therapies for ACTA1-based congenital myopathies.
14 are responsible for muscular dystrophies and congenital myopathies.
15 from the classic essentially non-progressive congenital myopathies.
16 nd novel therapeutic agent for patients with congenital myopathies.
17 hannel, result in an overlapping spectrum of congenital myopathies.
18 gy, structural defects found in a variety of congenital myopathies.
19 d thin filament, is one of the most frequent congenital myopathies.
20 her forms of nemaline myopathy and for other congenital myopathies.
21 harmacological targets to treat RyR1-related congenital myopathies.
22 ovide insight into the mechanisms underlying congenital myopathies.
23 ies), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy
24 ings will improve the molecular diagnosis of congenital myopathies and implicate the mitogen-activate
25 utations in the gene encoding LMOD3 underlie congenital myopathy and demonstrate that LMOD3 is essent
26 ypher knockout mice display a severe form of congenital myopathy and die postnatally from functional
27                      This report describes a congenital myopathy and major loss of thymic lymphocytes
28 e pathological and clinical heterogeneity of congenital myopathies, and the overlap between the diffe
29  Net39 was downregulated in a mouse model of congenital myopathy, and restoration of Net39 expression
30                                              Congenital myopathies are a clinically and genetically h
31                                          The congenital myopathies are a diverse group of genetic ske
32                                              Congenital myopathies are a group of muscle diseases lea
33                                              Congenital myopathies are clinically and genetically het
34                         Approximately 40% of congenital myopathies are currently genetically unresolv
35                             Classically, the congenital myopathies are defined by skeletal muscle dys
36                                              Congenital myopathies are genetically and clinically het
37                 The muscular dystrophies and congenital myopathies are inherited diseases of the skel
38 e pathophysiological concepts underlying the congenital myopathies are moving into sharper focus.
39                                              Congenital myopathies are phenotypically and genetically
40 ations in RYR1 were the most common cause of congenital myopathies at 1:90,000.
41 pproximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive
42            X-linked myotubular myopathy is a congenital myopathy caused by deficiency of myotubularin
43     X-linked myotubular myopathy is a severe congenital myopathy caused by deficiency of the lipid ph
44 ronuclear myopathies (CNMs) are a subtype of congenital myopathies characterized by skeletal muscle w
45  Mutations in the alpha7 integrin gene cause congenital myopathy characterized by delayed development
46 dentified a family with dominantly inherited congenital myopathy characterized by distal weakness and
47        Central core disease (CCD) is a human congenital myopathy characterized by fetal hypotonia and
48 PM3, encoding alpha-tropomyosinslow, cause a congenital myopathy characterized by generalized muscle
49                  Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and
50               ADSS1 myopathy is an ultrarare congenital myopathy characterized by progressive cardiac
51           Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of sub
52  coding region could be associated with some congenital myopathy conditions.
53                                              Congenital myopathies define a heterogeneous group of ne
54          To identify novel genetic causes of congenital myopathies, exome sequencing was performed in
55         Stemming from recent advances in the congenital myopathy field, five key pathophysiology them
56 tations in collagen VI lead to a spectrum of congenital myopathies, from the mild Bethlem myopathy to
57 ecific knockout models that recapitulate the congenital myopathy, gene expression, and spliceopathy d
58       Over the past decade, more than 20 new congenital myopathy genes have been identified.
59 of clinical and pathological features in the congenital myopathies has led to the recognition that di
60                          In a mouse model of congenital myopathy, heterozygous Acta1 (H40Y) knock-in
61 muscle activity could cause or contribute to congenital myopathies if Runx1 or its target genes were
62  this, we determined the point prevalence of congenital myopathies in a well-defined pediatric popula
63     Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs.
64 athophysiological themes, here we review the congenital myopathies in relation to these emerging path
65                            The prevalence of congenital myopathies in the United States has not been
66 ides the first estimate of the prevalence of congenital myopathies in the United States.
67                                          The congenital myopathies include a wide spectrum of clinica
68  ryanodine receptor 1 (RYR1) mutations cause congenital myopathies including multiminicore disease (M
69                                     Multiple congenital myopathies, including nemaline myopathy, can
70 RYR1) gene are associated with several human congenital myopathies, including the dominantly inherite
71    Nemaline myopathy, one of the most common congenital myopathies is associated with mutations in va
72 yopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular
73 mery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in
74 e pharmacological treatment of patients with congenital myopathies linked to recessive RYR1 mutations
75 ate there are no therapies for patients with congenital myopathies, muscle disorders causing poor qua
76 ystrophy, inherited peripheral neuropathies, congenital myopathy/muscular dystrophies and Duchenne/Be
77                                         Some congenital myopathy patients have a hypercontractile phe
78  mice is reminiscent of that found in severe congenital myopathy patients, many of whom also die of r
79 gle-Barret syndrome, is a rare, multi-system congenital myopathy primarily affecting males.
80  (19%) had variants in genes associated with congenital myopathies, reflecting overlapping features o
81 utations in RYR1 are associated with several congenital myopathies (termed RYR1-related myopathies) t
82 2 (CFL2) mutations have been associated with congenital myopathies that include nemaline and myofibri
83  myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle
84                  Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dys
85 nt and perhaps complementary grouping of the congenital myopathies, that at the same time could help
86 enance in humans, and expand the spectrum of congenital myopathies to include cell-cell fusion defici
87      We investigated patients diagnosed with congenital myopathy using exome or genome sequencing.
88  and has been associated with myasthenia and congenital myopathy, while a mix of loss and gain of fun
89 ested nemaline myopathy, a common subtype of congenital myopathy, while the other 2 had a nonspecific
90      It also provides a brief summary of the congenital myopathies with myasthenic features.
91 luding disorders traditionally classified as congenital myopathies with structural abnormalities, adu
92               We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and addi