ライフサイエンスコーパス: ophthalmoplegia

1 half of the subjects studied had evidence of ophthalmoplegia.

2 rum levels of creatine kinase and a profound ophthalmoplegia.

3 osis and a restrictive infraductive external ophthalmoplegia.

4 tochondrial disease and progressive external ophthalmoplegia.

5 defect in patients with progressive external ophthalmoplegia.

6 polymerase, is typically proximal with early ophthalmoplegia.

7 Alpers syndrome to mild progressive external ophthalmoplegia.

8 lowed by development of progressive external ophthalmoplegia.

9 as Alpers syndrome and progressive external ophthalmoplegia.

10 ented with myopathy and progressive external ophthalmoplegia.

11 nd generalized limb weakness with ptosis and ophthalmoplegia.

12 d with certain types of progressive external ophthalmoplegia.

13 for autosomal dominant progressive external ophthalmoplegia.

14 ssary for good clinical outcomes in cases of ophthalmoplegia.

15 onism in the absence of progressive external ophthalmoplegia.

16 ittle or no facial weakness or ptosis and no ophthalmoplegia.

17 py eyelids (ptosis) and progressive external ophthalmoplegia.

18 myopathy and late-onset progressive external ophthalmoplegia.

19 py eyelids (ptosis) and progressive external ophthalmoplegia.

20 roptosis, limited supraduction, and variable ophthalmoplegia.

21 sis that sometimes evolved to total external ophthalmoplegia.

22 neuropathy and chronic progressive external ophthalmoplegia.

23 udies have supported the use of internuclear ophthalmoplegia, a model to study effects of fatigue and

24 Internuclear ophthalmoplegia, a new finding, was present in two of ou

25 ause autosomal dominant progressive external ophthalmoplegia (adPEO) with multiple mtDNA deletions (M

26 ause autosomal dominant progressive external ophthalmoplegia (adPEO), cardiomyopathy, and myopathy.

27 ause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondrial myopathy and card

28 omes (MDS) and familial progressive external ophthalmoplegia (AdPEO).

29 ar-old man presenting with left-sided, total ophthalmoplegia after a traffic accident.

30 often include severe headache, visual loss, ophthalmoplegia, altered consciousness, and impaired pit

31 data on the epidemiology and risk factors of ophthalmoplegia among diabetic patients.

32 alence and important risk factors related to ophthalmoplegia among diabetic patients.

33 h genetic disorders such as chronic external ophthalmoplegia and Alpers syndrome.

34 rders including Alpers, progressive external ophthalmoplegia and ataxia-neuropathy syndrome.

35 d children presenting with severe congenital ophthalmoplegia and facial weakness in the setting of on

36 Clinically, the patients' ophthalmoplegia and facial weakness were far more signif

37 in the differential diagnosis of congenital ophthalmoplegia and facial weakness, even without clinic

38 ross motor regression, hypotonia, ptosis and ophthalmoplegia and had abnormal signals in brainstem an

39 e clinical syndrome characterized by painful ophthalmoplegia and ipsilateral cranial neuropathies.

40 with variable degrees of cerebellar ataxia, ophthalmoplegia and neuropathy.

41 s in multiple sclerosis include internuclear ophthalmoplegia and nystagmus, resulting in diplopia, os

42 biopsy in patients with progressive external ophthalmoplegia and peripheral neuropathy.

43 pathy characterized by ataxia, areflexia and ophthalmoplegia, and in the majority of cases the presen

44 orders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the

45 mus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy.

46 ated vertical deviation, sensory strabismus, ophthalmoplegia, and paradoxical diplopia.

47 s contractures of hands and feet, scoliosis, ophthalmoplegia, and ptosis.

48 of Guillain-Barre syndrome, characterized by ophthalmoplegia, areflexia and ataxia.

49 nset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial D

50 G7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial D

51 gender, family history, progressive external ophthalmoplegia at clinical presentation, hearing loss,

52 Clinically BBE manifests in progressive ophthalmoplegia, ataxia and consciousness disturbances.

53 Total ophthalmoplegia can result from ryanodine receptor 1 (RY

54 ANTs is associated with progressive external ophthalmoplegia, cardiomyopathy, nonsyndromic intellectu

55 The overall prevalence of ophthalmoplegia cases was 0.32 %, further distributed in

56 ted by dominant chronic progressive external ophthalmoplegia (CPEO) complicated by parkinsonism and d

57 e a syndrome of chronic progressive external ophthalmoplegia (CPEO) in humans.

58 Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disord

59 A deletions and chronic progressive external ophthalmoplegia (CPEO) plus syndrome.

60 f mitochondrial chronic progressive external ophthalmoplegia (CPEO)-plus disorders associated with mu

61 red fibers, and chronic progressive external ophthalmoplegia deletion syndromes, with ragged red musc

62 obtaining neuroimaging upon follow-up if the ophthalmoplegia does not improve, progresses, or becomes

63 Autosomal dominant progressive external ophthalmoplegia due to PEO1 mutations is considered rela

64 p of autosomal dominant progressive external ophthalmoplegia due to the p.R357P gene mutation in PEO1

65 Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a la

66 -epilepsy syndrome, and progressive external ophthalmoplegia, each with vastly different clinical pre

67 68 adult patients with progressive external ophthalmoplegia either with or without multiple mitochon

68 roptosis, limited vertical duction, variable ophthalmoplegia, exotropia, and paradoxical abduction in

69 grees in which patients presented with total ophthalmoplegia, facial weakness, and myopathy.

70 ripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards.

71 d clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoence

72 ge of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia;

73 patients primarily with progressive external ophthalmoplegia generate T251I and P587L amino acid subs

74 osomal dominant chronic progressive external ophthalmoplegia have been described.

75 ses such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with mtDNA depl

76 acronym CANOMAD: chronic ataxic neuropathy, ophthalmoplegia, IgM paraprotein, cold agglutinins and d

77 he degenerative disease progressive external ophthalmoplegia in humans, and we show that this residue

78 Patients with internuclear ophthalmoplegia (INO) may have preserved vergence, which

79 Visual loss from optic neuropathy and ophthalmoplegia involving multiple cranial nerves are th

80 ction 3, in particular, focuses on a form of ophthalmoplegia involving progressive paralysis of extra

81 Progressive external ophthalmoplegia is a common clinical feature in mitochon

82 Ophthalmoplegia is a rare entity associated mainly with

83 g patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndrome, or Pearson's syn

84 uman autosomal dominant progressive external ophthalmoplegia mutations shows differential effects.

85 uman autosomal dominant progressive external ophthalmoplegia mutations.

86 ular dystrophy, chronic progressive external ophthalmoplegia, myotonic dystrophy, neurofibromatosis t

87 retinopathy (n = 1), bilateral internuclear ophthalmoplegia (n = 1), and headache (n = 1).

88 Ophthalmoplegia occurred only when the subarachnoid widt

89 While ophthalmoplegia occurs rarely in RYR1-related myopathies

90 smus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis.

91 myasthenic manifestations such as ptosis and ophthalmoplegia or facial weakness, and links myasthenic

92 e-Korsakoff syndrome: confusion, ataxia, and ophthalmoplegia or nystagmus.

93 causing infantile mtDNA depletion syndrome, ophthalmoplegia, parkinsonism, male subfertility and, in

94 with autosomal dominant progressive external ophthalmoplegia (PEO) harbour mutations in genes encodin

95 Progressive external ophthalmoplegia (PEO) is a common feature in adults with

96 Progressive external ophthalmoplegia (PEO) is a heritable mitochondrial disor

97 s to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes.

98 rial diseases including progressive external ophthalmoplegia (PEO), Alpers syndrome and other neuromu

99 recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia,

100 pletion syndrome (MDS), progressive external ophthalmoplegia (PEO), ataxia-neuropathy, or mitochondri

101 matopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the ocular mu

102 and diabetes (MIDD) and progressive external ophthalmoplegia (PEO).

103 acterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe gastroint

104 results in early onset progressive external ophthalmoplegia, premature ovarian failure, and Parkinso

105 ical symptoms, such as vertical supranuclear ophthalmoplegia, progressive ataxia, and dementia.

106 -adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a progress

107 e, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of

108 omes such as optic neuritis and internuclear ophthalmoplegia, respectively.

109 Ophthalmoplegia secondary to a traumatic dissecting aneu

110 pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytoch

111 by a specific form of restrictive paralytic ophthalmoplegia with or without ptosis.

112 mic any pupil-spared, painless, nonproptotic ophthalmoplegia with or without ptosis.

113 al disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and

114 ed by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fi

115 e born with bilateral ptosis and restrictive ophthalmoplegia with the globes "frozen" in extreme abdu