ライフサイエンスコーパス: emery

1 The task (developed by Bird and Emery [6]) required dropping stones into a vertical tube

2 d skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy.

3 multiple tissue-specific diseases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystro

4 Of these, Emery-Dreifuss and Limb-Girdle muscular dystrophy 1B mai

5 r dystrophy (MD) known as autosomal dominant Emery-Dreifuss MD (EDMD-AD) and dilated cardiomyopathy a

6 y seen in limb-girdle type 1B, myotonic, and Emery-Dreifuss muscular dystrophies.

7 tations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchins

8 human diseases including autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD), which affec

9 disrupted the expression of genes linked to Emery-Dreifuss muscular dystrophy (EDMD) and centronucle

10 ge of diseases, including autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) and related dis

11 en found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dila

12 Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studi

13 Emery-Dreifuss muscular dystrophy (EDMD) is a heterogene

14 Emery-Dreifuss muscular dystrophy (EDMD) is an inherited

15 ntified two patients with genetically proven Emery-Dreifuss muscular dystrophy (EDMD) who followed an

16 ent a diverse group of diseases that include Emery-Dreifuss muscular dystrophy (EDMD), dilated cardio

17 protein, defects in which are implicated in Emery-Dreifuss muscular dystrophy (EDMD), one of the thr

18 strophy, neuropathies and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD).

19 domain nuclear protein, loss of which causes Emery-Dreifuss muscular dystrophy (EDMD).

20 utations in either emerin or lamin A/C cause Emery-Dreifuss muscular dystrophy (EDMD).

21 ane protein which is missing or defective in Emery-Dreifuss muscular dystrophy (EDMD).

22 Loss of human emerin causes Emery-Dreifuss muscular dystrophy (EDMD).

23 Two of these, Emery-Dreifuss muscular dystrophy (EDMD-AD) and a form o

24 en shown to be altered in autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) and in dilat

25 Emery-Dreifuss muscular dystrophy (EDMD1) is caused by m

26 the overtly aphenotypical model of X-linked Emery-Dreifuss muscular dystrophy (Emd(-/y)) were also i

27 Emery-Dreifuss muscular dystrophy (EMD) is an X-linked d

28 Emery-Dreifuss muscular dystrophy (EMD) is an X-linked d

29 A muscle biopsy from an Emery-Dreifuss muscular dystrophy (EMDM) patient showed

30 rd progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss muscular dystrophy (Lmna(-/-)).

31 X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited

32 ype lamins cause several diseases, including Emery-Dreifuss muscular dystrophy and Dunnigan-type fami

33 se a wide range of human diseases, including Emery-Dreifuss muscular dystrophy and Hutchinson-Gilford

34 rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital

35 revent or delay heart failure in humans with Emery-Dreifuss muscular dystrophy and related disorders

36 Autosomal Emery-Dreifuss muscular dystrophy and related disorders

37 des epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI di

38 Each of the X-linked form of Emery-Dreifuss muscular dystrophy and Ullrich muscular d

39 strongly support gene expression models for Emery-Dreifuss muscular dystrophy by showing that emerin

40 Emery-Dreifuss muscular dystrophy can be caused by mutat

41 Emery-Dreifuss muscular dystrophy has some remarkably sp

42 X-linked Emery-Dreifuss muscular dystrophy is caused by loss of f

43 he natural history of cardiac involvement in Emery-Dreifuss muscular dystrophy was described in detai

44 n LB3T-Ig (R454W; LB3T-IgRW), known to cause Emery-Dreifuss muscular dystrophy when present in lamin

45 n the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset dis

46 Loss of emerin causes Emery-Dreifuss muscular dystrophy, a tissue-specific inh

47 a broad variety of human diseases, including Emery-Dreifuss muscular dystrophy, dilated cardiomyopath

48 cause a variety of human diseases including Emery-Dreifuss muscular dystrophy, dilated cardiomyopath

49 r neuromuscular disorder, autosomal dominant Emery-Dreifuss muscular dystrophy, DOK7 gene therapy lik

50 hat exhibit tissue-specific defects, such as Emery-Dreifuss muscular dystrophy.

51 may also be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy.

52 with emerin, the protein mutated in X-linked Emery-Dreifuss muscular dystrophy.

53 H222P 'knock in' mice, a model of autosomal Emery-Dreifuss muscular dystrophy.

54 scle atrophy, rigid spine syndrome (RSS) and Emery-Dreifuss muscular dystrophy.

55 a knockin mouse model of autosomal dominant Emery-Dreifuss muscular dystrophy.

56 pment of heart disease in autosomal dominant Emery-Dreifuss muscular dystrophy.

57 use loss or mislocalization of emerin causes Emery-Dreifuss muscular dystrophy.

58 Mutations in emerin cause X-linked recessive Emery-Dreifuss muscular dystrophy.

59 rlapping functions, which may be relevant to Emery-Dreifuss muscular dystrophy.

60 Loss of emerin causes Emery-Dreifuss muscular dystrophy.

61 duction-system disease or autosomal dominant Emery-Dreifuss muscular dystrophy.

62 minant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyn

63 ein emerin, from an individual with X-linked Emery--Dreifuss muscular dystrophy.

64 ive multicomponent behavior, as in the Blume-Emery-Griffiths model, and can straightforwardly reprodu

65 alone, (2) a saline-wetted cytobrush, or (3) emery paper (600A-grit Wetordry Tri-M-ite; 3M) abrasion

66 Subsequently, emery paper and saline-wetted Dacron swabs were used to

67 The emery paper-swab method offers an efficient sampling met

68 olymerase chain reaction-based assay, 45% of emery-paper samples were found to be positive for beta-g

69 s and their hosts are often close relatives (Emery's rule), and two main hypotheses compete to explai