ライフサイエンスコーパス: Friedreich's ataxia

1 al, and behavioural deficits associated with Friedreich's ataxia.

2 tract as possibly related to the etiology of Friedreich's ataxia.

3 es neural and cardiac cell degeneration, and Friedreich's ataxia.

4 re tightly associated with the occurrence of Friedreich's ataxia.

5 function of this unusual DNA conformation in Friedreich's ataxia.

6 sease-associated repeats except for those of Friedreich's ataxia.

7 ataxin protein as related to the etiology of Friedreich's ataxia.

8 otonic dystrophy, the fragile X syndrome and Friedreich's ataxia.

9 implicated in the neurodegenerative disease, Friedreich's ataxia.

10 g fragile X syndrome, myotonic dystrophy and Friedreich's ataxia.

11 Nov 21, 2013, we enrolled 605 patients with Friedreich's ataxia.

12 pathologic process leading to cell damage in Friedreich's ataxia.

13 xia and peripheral neuropathy that resembles Friedreich's ataxia.

14 or the design of upcoming clinical trials of Friedreich's ataxia.

15 egistry investigating the natural history of Friedreich's ataxia.

16 A, fragile X syndrome, Hunter syndrome, and Friedreich's ataxia.

17 ohort of patients with genetically confirmed Friedreich's ataxia.

18 modifying, and neuroprotective treatment for Friedreich's ataxia.

19 ters but whose mutations are associated with Friedreich's ataxia.

20 strophy, Huntington's disease, fragile X and Friedreich's ataxia.

21 y of high-dose nicotinamide in patients with Friedreich's ataxia.

22 and frataxin (FXN), the protein deficient in Friedreich's ataxia.

23 assembly process and the molecular basis of Friedreich's ataxia.

24 -S cluster assembly lead to diseases such as Friedreich's ataxia.

25 for causing the neurodegenerative pathology Friedreich's ataxia.

26 AA repeats responsible for the human disease Friedreich's ataxia.

27 tosomal recessive neurodegenerative disorder Friedreich's ataxia.

28 s in the first intron of FXN gene results in Friedreich's ataxia.

29 egulate the FXN gene silencing, which causes Friedreich's ataxia.

30 factor (SCF) in a humanized murine model of Friedreich's ataxia.

31 in a hereditary neurodegenerative disorder, Friedreich's ataxia.

32 yndrome 2 (HDL2), familial prion disease and Friedreich's ataxia.

33 triggering neuro- and cardiodegeneration in Friedreich's ataxia.

34 a GAA/TTC DNA triplex has been implicated in Friedreich's ataxia.

35 clinical trials in Huntington's disease and Friedreich's ataxia.

36 pinocerebellar ataxias 1, 2, 3, 6 and 7, and Friedreich's ataxia, 132 sporadic idiopathic and 33 clin

37 The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (

38 The gene responsible for Friedreich's ataxia, a disease characterized by neurodeg

39 mitochondrial protein which is deficient in Friedreich's ataxia, a hereditary neurodegenerative dise

40 Humans with frataxin deficiency have Friedreich's ataxia, a neurodegenerative disorder charac

41 repeats that silence frataxin expression in Friedreich's ataxia, a terminal neurodegenerative diseas

42 Friedreich's ataxia, an autosomal cardio- and neurodegen

43 Friedreich's ataxia, an autosomal recessive neurodegener

44 Low expression of frataxin in humans causes Friedreich's ataxia, an autosomal recessive neurodegener

45 long with common phenotypic traits shared by Friedreich's ataxia and FXTAS carriers (e.g. gait ataxia

46 eurodegenerative diseases (i.e. Alzheimer's, Friedreich's ataxia and Parkinson's diseases).

47 orrelated with the neurodegenerative disease Friedreich's ataxia and results in the inactivation of F

48 n the other hand, revealed that pathology in Friedreich's ataxia and spinocerebellar ataxia type 3 is

49 hy of the cerebellar nuclei in patients with Friedreich's ataxia and spinocerebellar ataxia type 3.

50 tology shows marked atrophy of the nuclei in Friedreich's ataxia and spinocerebellar ataxia type 3.

51 aining to activation of frataxin expression (Friedreich's ataxia) and production of active survival m

52 ng those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and corre

53 spinocerebellar ataxia type 6, preserved in Friedreich's ataxia, and mildy reduced in spinocerebella

54 with autosomal dominant congenital cataract, Friedreich's ataxia, and X-linked sideroblastic anemia w

55 ia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias.

56 Patients with Friedreich's ataxia as well as those with intrinsic cere

57 o explain the reduction in mRNA abundance in Friedreich's ataxia based on intermolecular triplex form

58 lled 592 patients with genetically confirmed Friedreich's ataxia between Sept 15, 2010, and April 30,

59 The Friedreich's ataxia cohort was subdivided into three gro

60 reduced in spinocerebellar ataxia type 6 and Friedreich's ataxia compared to matched controls (P-valu

61 t expansions found in myotonic dystrophy and Friedreich's ataxia confer variegation of expression on

62 The European Friedreich's Ataxia Consortium for Translational Studies

63 Within the European Friedreich's Ataxia Consortium for Translational Studies

64 onal Institute for Health Research, European Friedreich's Ataxia Consortium for Translational Studies

65 repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystroph

66 s for a prospective, international, European Friedreich's ataxia database registry.

67 can lead to gene inactivation, the cause of Friedreich's ataxia disease in humans.

68 Friedreich's ataxia (FA) is a progressive, multisystem,

69 Friedreich's ataxia (FA) is an autosomal recessive disea

70 a diagnosis by Nikolaus Friedreich in 1863, Friedreich's ataxia (FA) is an autosomal recessive progr

71 Friedreich's ataxia (FA) is the most frequently inherite

72 otein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successf

73 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an e

74 cations for the design of clinical trials in Friedreich's ataxia, for which SARA might be the most su

75 nded GAA*TTC repeat sequence associated with Friedreich's ataxia (FRDA) adopts non-B DNA structures,

76 Friedreich's ataxia (FRDA) and ataxia with oculomotor ap

77 peats in intron 1 of the frataxin gene cause Friedreich's ataxia (FRDA) by reducing frataxin mRNA lev

78 Our discovery that plasmids containing the Friedreich's ataxia (FRDA) expanded GAA.TTC sequence, wh

79 Friedreich's ataxia (FRDA) is a common hereditary degene

80 Friedreich's ataxia (FRDA) is a hereditary neurodegenera

81 Friedreich's ataxia (FRDA) is a neurodegenerative diseas

82 Friedreich's ataxia (FRDA) is a neurodegenerative diseas

83 Friedreich's ataxia (FRDA) is a progressive neurodegener

84 Friedreich's ataxia (FRDA) is a severe neurodegenerative

85 Friedreich's ataxia (FRDA) is an autosomal recessive deg

86 Friedreich's ataxia (FRDA) is an autosomal recessive dis

87 Friedreich's ataxia (FRDA) is an autosomal recessive neu

88 Friedreich's ataxia (FRDA) is an autosomal recessive neu

89 Friedreich's ataxia (FRDA) is an autosomal recessive neu

90 The onset and progress of Friedreich's ataxia (FRDA) is associated with the geneti

91 Friedreich's ataxia (FRDA) is caused by biallelic expans

92 Friedreich's ataxia (FRDA) is caused by large GAA expans

93 The neurodegenerative disorder Friedreich's ataxia (FRDA) is caused by mutations in fra

94 Friedreich's ataxia (FRDA) is caused by point mutations

95 Friedreich's ataxia (FRDA) is the most common inherited

96 Friedreich's ataxia (FRDA) is the most common inherited

97 Friedreich's ataxia (FRDA) is the result of mutations in

98 The DNA abnormality found in 98% of Friedreich's ataxia (FRDA) patients is the unstable hype

99 In Friedreich's ataxia (FRDA) patients, diminished frataxin

100 There were 383 patients with Friedreich's ataxia (FRDA), 205 patients with SCA and 16

101 ure is the most common cause of mortality in Friedreich's ataxia (FRDA), a mitochondrial disease char

102 Mutations in Frataxin (FXN) cause Friedreich's ataxia (FRDA), a recessive neurodegenerativ

103 Friedreich's ataxia (FRDA), an autosomal recessive cardi

104 to influence the clinical manifestations of Friedreich's ataxia (FRDA), an autosomal recessive neuro

105 reduce the expression of frataxin and cause Friedreich's ataxia (FRDA), an autosomal recessive neuro

106 characterize the myocardium in patients with Friedreich's ataxia (FRDA), and the relationship between

107 In Friedreich's ataxia (FRDA), expanded GAA repeats in intr

108 Friedreich's ataxia (FRDA), the most common inherited at

109 Friedreich's ataxia (FRDA), the most common inherited at

110 nd reduced levels lead to the human disease, Friedreich's ataxia (FRDA).

111 e are the principal mutation responsible for Friedreich's ataxia (FRDA).

112 the first intron of the frataxin gene causes Friedreich's ataxia (FRDA).

113 ession of the Frataxin gene (FXN) leading to Friedreich's ataxia (FRDA).

114 (DM1), myotonic dystrophy type 2 (DM2), and Friedreich's ataxia (FRDA).

115 of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this

116 enrolled patients with genetically confirmed Friedreich's ataxia from 11 European study sites in Aust

117 Friedreich's ataxia (GAA)n repeats of various lengths we

118 This region contains the Friedreich's Ataxia gene, raising the possibility that H

119 n a parent does not exclude the diagnosis of Friedreich's ataxia in the offspring, and tests for the

120 To characterize the Friedreich's ataxia intermediates, we generated massive

121 Friedreich's ataxia is a devastating neurological diseas

122 We show that GAA instability in Friedreich's Ataxia is a DNA-directed mutation caused by

123 Friedreich's Ataxia is a genetic disease caused by expan

124 Friedreich's ataxia is a neurodegenerative disease cause

125 Friedreich's ataxia is a neurodegenerative disorder caus

126 Friedreich's ataxia is a progressive degenerative disord

127 Friedreich's ataxia is a rare autosomal recessive neurod

128 Friedreich's ataxia is an incurable genetic disorder cau

129 Friedreich's ataxia is associated with a deficiency in f

130 The progressive neurodegenerative disease Friedreich's ataxia is caused by a decreased level of ex

131 Friedreich's ataxia is caused by a triplet repeat expans

132 Friedreich's ataxia is caused by expansion mutations in

133 Friedreich's ataxia is caused by the massive expansion o

134 ability to ameliorate frataxin deficiency in Friedreich's ataxia is warranted.

135 n = 12, age range 41-76 years, five female), Friedreich's ataxia (n = 12, age range 21-55 years, seve

136 s, consistent with a multi-step mechanism of Friedreich's ataxia pathophysiology, and suggesting alte

137 Friedreich's ataxia patients are homozygous for expanded

138 In Friedreich's ataxia patients there was a significant inv

139 )n found in intron 1 of the frataxin gene of Friedreich's ataxia patients.

140 tiple tissues obtained from six autopsies of Friedreich's ataxia patients.

141 oteins include mutations of frataxin causing Friedreich's ataxia, PINK1, DJ1 causing Parkinson's dise

142 Disease severity was assessed by the Friedreich's Ataxia Rating Scale (FARS).

143 activities of daily living (ADL) part of the Friedreich's Ataxia Rating Scale and EQ-5D.

144 iquinone showing promise in the treatment of Friedreich's Ataxia, reacts at the flavin site.

145 TTC triplet repeats (responsible for DM1 and Friedreich's ataxia, respectively) can expand by genetic

146 he etiology of myotonic dystrophy type 1 and Friedreich's ataxia, respectively.

147 g1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasmi

148 in the homozygous state in atypical cases of Friedreich's ataxia, such as older age of onset, preserv

149 irst intron of the X25 (frataxin) gene cause Friedreich's ataxia, the most common inherited ataxia.

150 In families with Friedreich's Ataxia, the only recessive trinucleotide di

151 comparing spinocerebellar ataxia type 6 and Friedreich's ataxia to matched controls (P < 0.01, boots

152 Fragile X mental retardation and Friedreich's ataxia were among the first pathogenic trin

153 emale patients (aged 18 years or older) with Friedreich's ataxia were given single doses (phase 1) an

154 ty-six patients with a clinical diagnosis of Friedreich's ataxia were investigated for the GAA trinuc

155 deficiency of this protein in humans causes Friedreich's ataxia, while its complete absence in yeast

156 function have a role in the pathogenesis of Friedreich's ataxia, Wilson's disease and hereditary spa