ライフサイエンスコーパス: external ophthalmoplegia

1 stemic steroid led to complete resolution of external ophthalmoplegia.

2 efined mitochondrial disease and progressive external ophthalmoplegia.

3 moplegia; and autosomal dominant progressive external ophthalmoplegia.

4 genetic defect in patients with progressive external ophthalmoplegia.

5 gressive Alpers syndrome to mild progressive external ophthalmoplegia.

6 ears, followed by development of progressive external ophthalmoplegia.

7 ases such as Alpers syndrome and progressive external ophthalmoplegia.

8 associated with certain types of progressive external ophthalmoplegia.

9 sponsible for autosomal dominant progressive external ophthalmoplegia.

10 t parkinsonism in the absence of progressive external ophthalmoplegia.

11 s in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

12 s in droopy eyelids (ptosis) and progressive external ophthalmoplegia.

13 gaze paresis that sometimes evolved to total external ophthalmoplegia.

14 ary optic neuropathy and chronic progressive external ophthalmoplegia.

15 ults presented with myopathy and progressive external ophthalmoplegia.

16 ateral ptosis and a restrictive infraductive external ophthalmoplegia.

17 (cardio)myopathy and late-onset progressive external ophthalmoplegia.

18 me gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multiple mtDNA del

19 isoform cause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyopathy, and my

20 an Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondrial myopathy

21 ion syndromes (MDS) and familial progressive external ophthalmoplegia (AdPEO).

22 duals with genetic disorders such as chronic external ophthalmoplegia and Alpers syndrome.

23 ase variants have been linked to progressive external ophthalmoplegia and ataxia neuropathies among o

24 rial disorders including Alpers, progressive external ophthalmoplegia and ataxia-neuropathy syndrome.

25 d muscle biopsy in patients with progressive external ophthalmoplegia and peripheral neuropathy.

26 al nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular d

27 hy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progres

28 ons in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitoch

29 e adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitoch

30 e onset, gender, family history, progressive external ophthalmoplegia at clinical presentation, heari

31 ation of ANTs is associated with progressive external ophthalmoplegia, cardiomyopathy, nonsyndromic i

32 ies affected by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinson

33 T1 produce a syndrome of chronic progressive external ophthalmoplegia (CPEO) in humans.

34 Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondri

35 cted mtDNA deletions and chronic progressive external ophthalmoplegia (CPEO) plus syndrome.

36 ubgroup of mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorders associate

37 h ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes, with ragged

38 Autosomal dominant progressive external ophthalmoplegia due to PEO1 mutations is consid

39 follow-up of autosomal dominant progressive external ophthalmoplegia due to the p.R357P gene mutatio

40 Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutatio

41 ar ataxia-epilepsy syndrome, and progressive external ophthalmoplegia, each with vastly different cli

42 to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple

43 pathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life o

44 racterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility,

45 ore the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility;

46 n cis in patients primarily with progressive external ophthalmoplegia generate T251I and P587L amino

47 with autosomal dominant chronic progressive external ophthalmoplegia have been described.

48 ial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with m

49 causes the degenerative disease progressive external ophthalmoplegia in humans, and we show that thi

50 Progressive external ophthalmoplegia is a common clinical feature in

51 including patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndrome, or Pear

52 gous to human autosomal dominant progressive external ophthalmoplegia mutations shows differential ef

53 tanding human autosomal dominant progressive external ophthalmoplegia mutations.

54 geal muscular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibro

55 families with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutations in gene

56 Progressive external ophthalmoplegia (PEO) is a common feature in ad

57 Progressive external ophthalmoplegia (PEO) is a heritable mitochondr

58 POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenoty

59 mitochondrial diseases including progressive external ophthalmoplegia (PEO), Alpers syndrome and othe

60 autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory

61 ndrial depletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuropathy, or mi

62 Progressive external ophthalmoplegia (PEO), eyelid ptosis, exercise

63 of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the

64 deafness and diabetes (MIDD) and progressive external ophthalmoplegia (PEO).

65 rder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe

66 ne subject displayed an indolent progressive external ophthalmoplegia phenotype.

67 pol gamma results in early onset progressive external ophthalmoplegia, premature ovarian failure, and

68 ed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a

69 al disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large prop

70 bunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions a

71 aracterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or comp