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1 articipate in neurodegenerative diseases and nemaline myopathy.
2 show that deficiency of LMOD3 in mice causes nemaline myopathy.
3 eletion, or instability are linked to lethal nemaline myopathy.
4 embly and muscle dysfunction associated with nemaline myopathy.
5 d in several patients exhibiting symptoms of nemaline myopathy.
6 scle weakness in patients with nebulin-based nemaline myopathy.
7 he pathogenesis and pathophysiology of Amish nemaline myopathy.
8 ary insults that triggers the development of nemaline myopathy.
9 NT1) causes an autosomal-recessive inherited nemaline myopathy.
10 pressed in slow skeletal muscle fibers cause nemaline myopathy.
11 eaming of the Z-line similar to that seen in nemaline myopathy.
12 to alleviate the pathology of ACTA1-related nemaline myopathy.
13 on in the Nebulin (NEB) gene that results in Nemaline Myopathy, a 308,769 base pair deletion in the G
15 n have been implicated in causing congenital nemaline myopathy, a disease characterized histopatholog
16 ions in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated wi
17 ents of the sarcomeric thin filaments causes nemaline myopathy, a lethal congenital muscle disorder a
18 cated in multiple muscle diseases, including nemaline myopathy, actin aggregate myopathy, fiber-type
20 family member 40 (KLHL40) in mice results in nemaline myopathy and destabilization of leiomodin-3 (LM
21 new insights into the molecular etiology of nemaline myopathy and reveal a mechanism whereby KLHL41
23 thal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutati
25 re also observed in muscles of patients with nemaline myopathy, another congenital neuromuscular diso
27 Multiple congenital myopathies, including nemaline myopathy, can arise due to mutations in the ACT
28 pomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and di
31 ably, Raman spectra from a human sample with nemaline-myopathy formed a cluster with the correspondin
32 ns in leiomodin-3 are associated with lethal nemaline myopathy in humans, and leiomodin-2-knockout mi
34 scle troponin T (TnT) results in a recessive nemaline myopathy in the Amish featured with lethal resp
39 M, or introduction of a mutation that causes nemaline myopathy, Met-8-Arg, into AcTM1aZip destroyed T
41 igate the functional effects of three severe nemaline myopathy mutations (V43F, A138P, and R183G) in
52 ent (NEB KO mouse) or present at low levels (nemaline myopathy (NM) patients with NEB mutations) caus
57 strophies types 2A and 2B, Miyoshi myopathy, nemaline myopathy, polymyositis, dermatomyositis, and in
58 BTB/Kelch protein family that is mutated in nemaline myopathy type 6 (NEM6), an autosomal-dominant n
59 striated muscle results in cardiomyopathy or nemaline myopathy, whereas complete loss of Tmods leads
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