戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 d in several patients exhibiting symptoms of nemaline myopathy.
2  to alleviate the pathology of ACTA1-related nemaline myopathy.
3 articipate in neurodegenerative diseases and nemaline myopathy.
4 show that deficiency of LMOD3 in mice causes nemaline myopathy.
5 eletion, or instability are linked to lethal nemaline myopathy.
6 embly and muscle dysfunction associated with nemaline myopathy.
7 scle weakness in patients with nebulin-based nemaline myopathy.
8 he pathogenesis and pathophysiology of Amish nemaline myopathy.
9 ary insults that triggers the development of nemaline myopathy.
10 NT1) causes an autosomal-recessive inherited nemaline myopathy.
11 pressed in slow skeletal muscle fibers cause nemaline myopathy.
12 eaming of the Z-line similar to that seen in nemaline myopathy.
13 ately describe the phenotype of myofibers in nemaline myopathy.
14 ufficient to reverse the muscle phenotype in nemaline myopathy.
15 cts may contribute to the pathophysiology of nemaline myopathy.
16 apy is available to treat muscle weakness in nemaline myopathy.
17 " and provide a molecular basis for studying nemaline myopathies.
18 on in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the G
19         Two of 4 affected members manifested nemaline myopathy, a common subtype of congenital myopat
20 n have been implicated in causing congenital nemaline myopathy, a disease characterized histopatholog
21                                              Nemaline myopathy, a disease of the actin-based thin fil
22 ions in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated wi
23 ents of the sarcomeric thin filaments causes nemaline myopathy, a lethal congenital muscle disorder a
24                           No cure exists for nemaline myopathy, a type of genetic skeletal muscle dis
25      By applying SMPFO to two forms of human nemaline myopathy (ACTA1 and TNNT1 mutations), we reveal
26 cated in multiple muscle diseases, including nemaline myopathy, actin aggregate myopathy, fiber-type
27  mutation in KBTBD13 that is associated with nemaline myopathy alters the protein's effects on actin,
28 auses a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).
29 family member 40 (KLHL40) in mice results in nemaline myopathy and destabilization of leiomodin-3 (LM
30 should assess their merit for other forms of nemaline myopathy and for other congenital myopathies.
31  new insights into the molecular etiology of nemaline myopathy and reveal a mechanism whereby KLHL41
32 ely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle.
33 n at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease
34 thal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutati
35 cessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).
36 re also observed in muscles of patients with nemaline myopathy, another congenital neuromuscular diso
37                                          The nemaline myopathies are characterized by weakness and eo
38 e.g. tremors accompanied by clonus) of Amish nemaline myopathy, as well as of other recessively inher
39 adapter protein, result in severe congenital nemaline myopathy, but the events that initiate the path
40    Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the ACT
41 pomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and di
42            The seven patients have recessive nemaline myopathy caused by absence of alpha-skeletal mu
43 e and function and produces features seen in nemaline myopathy caused by cofilin mutations.
44 he impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6).
45         Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish.
46 a moderate myopathy phenotype reminiscent of nemaline myopathy despite the majority of nebulin being
47 nin activators to improve muscle function in nemaline myopathy due to the ACTA1H40Y mutation, and fut
48 ably, Raman spectra from a human sample with nemaline-myopathy formed a cluster with the correspondin
49 on and the myofibre proteome in two forms of nemaline myopathy, highlighting disease-associated alter
50 ns in leiomodin-3 are associated with lethal nemaline myopathy in humans, and leiomodin-2-knockout mi
51 ding nebulin repeats, are the major cause of nemaline myopathy in humans.
52 scle troponin T (TnT) results in a recessive nemaline myopathy in the Amish featured with lethal resp
53 se mutations that perfectly cosegregate with nemaline myopathy in the studied families.
54                    Treating a mouse model of nemaline myopathy in vivo with Mavacamten for 4 weeks, r
55 n (Acta1+/Ki) mice exhibit features of human nemaline myopathy, including premature lethality, severe
56                       We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic di
57                                        Amish nemaline myopathy is a form of nemaline myopathy common
58                                              Nemaline myopathy is a rare, clinically heterogeneous co
59 M, or introduction of a mutation that causes nemaline myopathy, Met-8-Arg, into AcTM1aZip destroyed T
60  muscle force-both in vivo and in vitro-in a nemaline myopathy mouse model with a mutation (H40Y) in
61 atory examined mitochondrial function across nemaline myopathy mouse models of varying disease severi
62                  The up(1) and Act88F(KM88) (nemaline-myopathy) mutants form a group that is clearly
63 igate the functional effects of three severe nemaline myopathy mutations (V43F, A138P, and R183G) in
64                             A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM)
65      Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients hav
66 TA1 are responsible for approximately 30% of nemaline myopathy (NM) cases.
67                                              Nemaline myopathy (NM) is a common form of congenital no
68                                              Nemaline myopathy (NM) is a congenital myopathy characte
69                                              Nemaline myopathy (NM) is a congenital myopathy that can
70                                              Nemaline myopathy (NM) is a genetic muscle disease, prim
71                                              Nemaline myopathy (NM) is a genetic muscle disorder char
72                                              Nemaline myopathy (NM) is a genetically and clinically h
73                                              Nemaline myopathy (NM) is a rare autosomal dominant skel
74                                              Nemaline myopathy (NM) is a rare congenital muscle disor
75                                              Nemaline myopathy (NM) is a rare congenital neuromuscula
76                                              Nemaline myopathy (NM) is a rare neuromuscular disorder
77                                              Nemaline myopathy (NM) is the most common non-dystrophic
78                                              Nemaline myopathy (NM) is the most common of several con
79 ctures and a histopathological appearance of nemaline myopathy (NM) on muscle biopsy.
80 ent (NEB KO mouse) or present at low levels (nemaline myopathy (NM) patients with NEB mutations) caus
81 ions in the nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized
82 ] was previously identified in patients with nemaline myopathy (NM), a severe skeletal muscle disorde
83                                              Nemaline myopathy (NM), the most common non-dystrophic c
84                                          The nemaline myopathies (NMs) are a clinically and genetical
85                                              Nemaline myopathies (NMs) are a group of congenital musc
86                                              Nemaline myopathy, one of the most common congenital myo
87 strophies types 2A and 2B, Miyoshi myopathy, nemaline myopathy, polymyositis, dermatomyositis, and in
88 troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respir
89 e and function as well as the development of nemaline myopathy, the contributions of this region rema
90  BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant n
91 striated muscle results in cardiomyopathy or nemaline myopathy, whereas complete loss of Tmods leads
92 ofilin-2 mutations have been associated with nemaline myopathy with minicores.
93  increase to 38.5 nm in the abnormally large nemaline myopathy Z-band.
94 all very similar, about 39 nm, just like the nemaline myopathy Z-bands.