ライフサイエンスコーパス: Friedreich

1 Friedreich ataxia (FA) is a neurodegenerative and cardio

2 Friedreich ataxia (FA) is a progressive neurodegenerativ

3 Friedreich ataxia (FA) is the most common ataxia and res

4 Friedreich Ataxia (FRDA) is a chronic neurodegenerative

5 Friedreich ataxia (FRDA) is a neurodegenerative disease

6 Friedreich ataxia (FRDA) is a neurodegenerative disorder

7 Friedreich ataxia (FRDA) is an autosomal recessive degen

8 Friedreich ataxia (FRDA) is an autosomal recessive degen

9 Friedreich ataxia (FRDA) is an autosomal recessive neuro

10 Friedreich ataxia (FRDA) is an inherited neurodegenerati

11 Friedreich ataxia (FRDA) is caused by a homozygous GAA r

12 Friedreich ataxia (FRDA) is caused by an expanded GAA tr

13 Friedreich ataxia (FRDA) is caused by hyperexpansion of

14 Friedreich ataxia (FRDA) is primarily caused by an unsta

15 Friedreich ataxia (FRDA) is the most common genetic sens

16 Friedreich ataxia (FRDA) is the most common inherited at

17 Friedreich ataxia (FRDA) patients are homozygous for exp

18 Friedreich ataxia (FRDA), an autosomal recessive, neurod

19 Friedreich ataxia (FRDA), the most common hereditary ata

20 Friedreich ataxia accounts for approximately 75% of Euro

21 Friedreich ataxia is a genetic disease caused by deficie

22 Friedreich ataxia is a severe autosomal-recessive diseas

23 Friedreich ataxia is an autosomal recessive neurodegener

24 Friedreich ataxia is an early-onset multisystemic diseas

25 Friedreich ataxia is an inherited neurodegenerative dise

26 Friedreich ataxia is caused by an expanded (GAA*TTC)n se

27 Friedreich ataxia is caused by an expanded (GAA.TTC)n se

28 Friedreich ataxia is caused by expansion of a GAA triple

29 Friedreich ataxia is caused by reduced activity of frata

30 Friedreich ataxia is caused by the expansion of a polymo

31 Friedreich ataxia is commonly caused by large expansions

32 Friedreich ataxia may be one of the most thoroughly stud

33 Friedreich ataxia patients are homozygous for expanded G

34 Friedreich ataxia results from frataxin insufficiency ca

35 Friedreich ataxia, a neurodegenerative disorder resultin

36 Friedreich ataxia, myotonic dystrophy type 1 and 3 forms

37 Friedreich ataxia, the most common inherited ataxia, is

38 Friedreich ataxia, the most prevalent inherited ataxia,

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

64 Friedreich's ataxia is a devastating neurological diseas

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

66 Friedreich's ataxia is a neurodegenerative disease cause

67 Friedreich's ataxia is a neurodegenerative disorder caus

68 Friedreich's ataxia is a progressive degenerative disord

69 Friedreich's ataxia is a rare autosomal recessive neurod

70 Friedreich's ataxia is an incurable genetic disorder cau

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

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

73 Friedreich's ataxia is caused by expansion mutations in

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

75 Friedreich's ataxia patients are homozygous for expanded

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

77 Friedreich's ataxia, an autosomal recessive neurodegener

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

79 ension (-14+/-6%), Fabry disease (-12+/-5%), Friedreich ataxia (-16+/-2%), or control subjects (-17+/

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

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

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

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

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

85 oth real data sets (cystic fibrosis data and Friedreich ataxia data) and simulated data sets.

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

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

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

89 ed arterial hypertension, Fabry disease, and Friedreich ataxia (n=25 per group) were investigated; 25

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

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

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

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

94 1 (SCA1), Machado-Joseph disease (MJD), and Friedreich ataxia.

95 < 0.05) in two Friedreich's mouse models and Friedreich's lymphocytes.

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

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

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

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

100 ses associated with oxidative stress such as Friedreich ataxia, spongiform encephalopathies, and Alzh

101 cluster biogenesis in mitochondria, such as Friedreich ataxia.

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

103 luded standardized neurological assessments (Friedreich Ataxia Rating Scale [FARS], International Coo

104 the most common autosomal recessive ataxia, Friedreich ataxia (FA).

105 genesis of the most common recessive ataxia, Friedreich ataxia.

106 Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with

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

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

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

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

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

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

113 unclear where and how, and deficiency causes Friedreich ataxia.

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

115 t in the first intron of the FXN gene causes Friedreich ataxia by reducing frataxin expression.

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

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

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

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

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

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

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

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

124 a Ireland, Association Suisse de l'Ataxie de Friedreich, Associazione Italiana per le Sindromi Atassi

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

126 tein linked to the neurodegenerative disease Friedreich ataxia, has recently been proposed as an iron

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

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

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

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

131 data on cystic fibrosis, Huntington disease, Friedreich ataxia, and progressive myoclonus epilepsy.

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

133 se models for the neurodegenerative diseases Friedreich ataxia and Huntington disease.

134 However, the human diseases, Friedreich ataxia, glutaredoxin 5-deficient sideroblasti

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

136 tosomal recessive neurodegenerative disorder Friedreich's ataxia.

137 re responsible for the neurological disorder Friedreich ataxia (FA).

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

139 l sclerosis, nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.

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

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

142 The European Friedreich's Ataxia Consortium for Translational Studies

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

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

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

146 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an e

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

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

149 ity of borderline alleles confers a risk for Friedreich ataxia, and the range of pathogenic alleles i

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

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

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

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

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

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

156 ata indicate that expanded GAA-TR alleles in Friedreich ataxia are highly mutable and have a natural

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

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

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

160 tolerability, and efficacy of deferiprone in Friedreich ataxia (FRDA).

161 inant cause of transcriptional deficiency in Friedreich ataxia.

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

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

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

165 f frataxin, the protein which is depleted in Friedreich ataxia.

166 , analogous to disease-causing expansions in Friedreich ataxia, including two that are in introns of

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

168 incomplete shift of IRP1 to its ISC form in Friedreich ataxia (FRDA) fibroblasts, associated with de

169 e homolog of the human protein implicated in Friedreich ataxia, is involved in iron homeostasis.

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

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

172 m underlying reduced frataxin mRNA levels in Friedreich Ataxia.

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

174 The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the trip

175 The most common mutation in Friedreich ataxia is an expanded (GAA*TTC)n sequence, wh

176 rate that the GAA triplet repeat mutation in Friedreich ataxia is destabilized, frequently undergoing

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

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

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

180 Human frataxin (fxn) is severely reduced in Friedreich ataxia (FRDA), a frequent autosomal recessive

181 ch corresponds to the expanded GAA repeat in Friedreich ataxia, as well as for ATT, CCT and GTT repea

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

183 Defects in frataxin result in Friedreich ataxia, a genetic disease characterized by ea

184 gene causes an mRNA deficit that results in Friedreich ataxia (FRDA).

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

186 Thus epigenetic promoter silencing in Friedreich ataxia is reversible, and the results implica

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

188 In most Friedreich ataxia patients, a large GAA-repeat expansion

189 tures reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy-3-methylglutaryl-CoA ly

190 First established as a diagnosis by Nikolaus Friedreich in 1863, Friedreich's ataxia (FA) is an autos

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

192 ical approach for the clinical assessment of Friedreich ataxia (FA) cardiomyopathy (FA-CM).

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

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

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

196 Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiod

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

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

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

200 eat tracts are involved in the etiologies of Friedreich ataxia, fragile X syndrome, and myotonic dyst

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

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

203 ansion, its role in the GAA.TTC expansion of Friedreich ataxia (FRDA) is less clear.

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

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

206 The vast majority of Friedreich ataxia patients are homozygous for large GAA

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

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

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

210 However, studies in models of Friedreich ataxia, a neurodegenerative and cardiodegener

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

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

213 s thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytoso

214 tically contribute to the pathophysiology of Friedreich ataxia.

215 ensurate with the observed low prevalence of Friedreich ataxia in Mestizos.

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

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

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

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

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

221 for causing the neurodegenerative pathology Friedreich's ataxia.

222 3) (prevalence, 3.1 per 100,000 population), Friedreich ataxia (prevalence, 1.0 per 100,000 populatio

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

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

225 ion, including expansions analogous to short Friedreich ataxia mutations.

226 tutes a new and useful model system to study Friedreich ataxia.

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

228 This indicates that Friedreich ataxia in Mexican Mestizos is due to genetic

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

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

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

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

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

234 The effects were most pronounced for the Friedreich ataxia and the fragile X triplet repeat seque

235 the formation of non-B-DNA structures in the Friedreich ataxia-associated (GAA)n*(TTC)n repeats from

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

237 ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur c

238 xpression also inversely correlated with the Friedreich Ataxia Rating Scale score, an indicator of di

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

240 as elevated over 1.35-fold (P < 0.05) in two Friedreich's mouse models and Friedreich's lymphocytes.

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

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

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

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

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

246 Most individuals with Friedreich ataxia (FRDA) are homozygous for an expanded

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

248 oncentrations are increased in patients with Friedreich ataxia, which supports the hypothesis that it

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

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

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

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

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

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