ライフサイエンスコーパス: nemaline myopathy

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

14 Two of 4 affected members manifested nemaline myopathy, a common subtype of congenital myopat

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

19 auses a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).

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

22 ely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle.

23 thal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutati

24 cessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).

25 re also observed in muscles of patients with nemaline myopathy, another congenital neuromuscular diso

26 The nemaline myopathies are characterized by weakness and eo

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

29 The seven patients have recessive nemaline myopathy caused by absence of alpha-skeletal mu

30 Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish.

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

33 ding nebulin repeats, are the major cause of nemaline myopathy in humans.

34 scle troponin T (TnT) results in a recessive nemaline myopathy in the Amish featured with lethal resp

35 se mutations that perfectly cosegregate with nemaline myopathy in the studied families.

36 We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic di

37 Amish nemaline myopathy is a form of nemaline myopathy common

38 Nemaline myopathy is a rare, clinically heterogeneous co

39 M, or introduction of a mutation that causes nemaline myopathy, Met-8-Arg, into AcTM1aZip destroyed T

40 The up(1) and Act88F(KM88) (nemaline-myopathy) mutants form a group that is clearly

41 igate the functional effects of three severe nemaline myopathy mutations (V43F, A138P, and R183G) in

42 A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM)

43 Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients hav

44 Nemaline myopathy (NM) is a common form of congenital no

45 Nemaline myopathy (NM) is a congenital myopathy characte

46 Nemaline myopathy (NM) is a congenital myopathy that can

47 Nemaline myopathy (NM) is a genetic muscle disorder char

48 Nemaline myopathy (NM) is a rare autosomal dominant skel

49 Nemaline myopathy (NM) is a rare congenital muscle disor

50 Nemaline myopathy (NM) is the most common non-dystrophic

51 Nemaline myopathy (NM) is the most common of several con

52 ent (NEB KO mouse) or present at low levels (nemaline myopathy (NM) patients with NEB mutations) caus

53 Nemaline myopathy (NM), the most common non-dystrophic c

54 The nemaline myopathies (NMs) are a clinically and genetical

55 Nemaline myopathies (NMs) are a group of congenital musc

56 Nemaline myopathy, one of the most common congenital myo

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

60 ofilin-2 mutations have been associated with nemaline myopathy with minicores.

61 increase to 38.5 nm in the abnormally large nemaline myopathy Z-band.

62 all very similar, about 39 nm, just like the nemaline myopathy Z-bands.