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1 development of the neurodegenerative disease Friedreich's ataxia.
2 yndrome 2 (HDL2), familial prion disease and Friedreich's ataxia.
3  triggering neuro- and cardiodegeneration in Friedreich's ataxia.
4 a GAA/TTC DNA triplex has been implicated in Friedreich's ataxia.
5  clinical trials in Huntington's disease and Friedreich's ataxia.
6 tract as possibly related to the etiology of Friedreich's ataxia.
7 es neural and cardiac cell degeneration, and Friedreich's ataxia.
8 re tightly associated with the occurrence of Friedreich's ataxia.
9 function of this unusual DNA conformation in Friedreich's ataxia.
10 sease-associated repeats except for those of Friedreich's ataxia.
11 evant to the development of therapeutics for Friedreich's ataxia.
12 ataxin protein as related to the etiology of Friedreich's ataxia.
13 otonic dystrophy, the fragile X syndrome and Friedreich's ataxia.
14 implicated in the neurodegenerative disease, Friedreich's ataxia.
15 g fragile X syndrome, myotonic dystrophy and Friedreich's ataxia.
16 pathologic process leading to cell damage in Friedreich's ataxia.
17 xia and peripheral neuropathy that resembles Friedreich's ataxia.
18  human disorders, such as Menkes disease and Friedreich's ataxia.
19 al, and behavioural deficits associated with Friedreich's ataxia.
20 n, anthracycline-induced cardiotoxicity, and Friedreich's ataxia.
21  to guide upcoming clinical trial designs in Friedreich's ataxia.
22 mice could provide mechanistic insights into Friedreich's ataxia.
23 (EFACTS) investigates the natural history of Friedreich's ataxia.
24 kdown of FDX2 may be a potential therapy for Friedreich's ataxia.
25 ophy is similar to findings in patients with Friedreich's ataxia.
26 modifying, and neuroprotective treatment for Friedreich's ataxia.
27 t strain of cells characterizing the disease Friedreich's Ataxia.
28 r data to inform upcoming clinical trials in Friedreich's ataxia.
29 ility and its implications for diseases like Friedreich's ataxia.
30 -S cluster assembly lead to diseases such as Friedreich's ataxia.
31  factor (SCF) in a humanized murine model of Friedreich's ataxia.
32 s in the first intron of the FXN gene causes Friedreich's ataxia.
33  Nov 21, 2013, we enrolled 605 patients with Friedreich's ataxia.
34 or the design of upcoming clinical trials of Friedreich's ataxia.
35 egistry investigating the natural history of Friedreich's ataxia.
36  A, fragile X syndrome, Hunter syndrome, and Friedreich's ataxia.
37 ohort of patients with genetically confirmed Friedreich's ataxia.
38 ters but whose mutations are associated with Friedreich's ataxia.
39 strophy, Huntington's disease, fragile X and Friedreich's ataxia.
40 y of high-dose nicotinamide in patients with Friedreich's ataxia.
41 and frataxin (FXN), the protein deficient in Friedreich's ataxia.
42  assembly process and the molecular basis of Friedreich's ataxia.
43  for causing the neurodegenerative pathology Friedreich's ataxia.
44 AA repeats responsible for the human disease Friedreich's ataxia.
45 tosomal recessive neurodegenerative disorder Friedreich's ataxia.
46 s in the first intron of FXN gene results in Friedreich's ataxia.
47 egulate the FXN gene silencing, which causes Friedreich's ataxia.
48  in a hereditary neurodegenerative disorder, Friedreich's ataxia.
49 pinocerebellar ataxias 1, 2, 3, 6 and 7, and Friedreich's ataxia, 132 sporadic idiopathic and 33 clin
50           The commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (
51            Loss of frataxin levels underlies Friedreich's ataxia(6), the most common inherited ataxia
52                     The gene responsible for Friedreich's ataxia, a disease characterized by neurodeg
53  mitochondrial protein which is deficient in Friedreich's ataxia, a hereditary neurodegenerative dise
54 ataxin overexpression in a cellular model of Friedreich's ataxia, a neurodegenerative disease caused
55         Humans with frataxin deficiency have Friedreich's ataxia, a neurodegenerative disorder charac
56  repeats that silence frataxin expression in Friedreich's ataxia, a terminal neurodegenerative diseas
57 ra-mitochondrial frataxin in the etiology of Friedreich's ataxia, also have important implications fo
58                                              Friedreich's ataxia, an autosomal cardio- and neurodegen
59  Low expression of frataxin in humans causes Friedreich's ataxia, an autosomal recessive neurodegener
60                                              Friedreich's ataxia, an autosomal recessive neurodegener
61 long with common phenotypic traits shared by Friedreich's ataxia and FXTAS carriers (e.g. gait ataxia
62 eurodegenerative diseases (i.e. Alzheimer's, Friedreich's ataxia and Parkinson's diseases).
63 orrelated with the neurodegenerative disease Friedreich's ataxia and results in the inactivation of F
64 n the other hand, revealed that pathology in Friedreich's ataxia and spinocerebellar ataxia type 3 is
65 hy of the cerebellar nuclei in patients with Friedreich's ataxia and spinocerebellar ataxia type 3.
66 tology shows marked atrophy of the nuclei in Friedreich's ataxia and spinocerebellar ataxia type 3.
67 r understanding of the multisystem nature of Friedreich's ataxia and the development of targeted trea
68 aining to activation of frataxin expression (Friedreich's ataxia) and production of active survival m
69 ng those associated with fragile X syndrome, Friedreich's ataxia, and Huntington's disease, and corre
70  spinocerebellar ataxia type 6, preserved in Friedreich's ataxia, and mildy reduced in spinocerebella
71 with autosomal dominant congenital cataract, Friedreich's ataxia, and X-linked sideroblastic anemia w
72 ia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias.
73                The neurodegenerative disease Friedreich's ataxia arises from a deficiency of frataxin
74 AA)(n) repeat expansions are responsible for Friedreich's ataxia as well as late-onset cerebellar ata
75                                Patients with Friedreich's ataxia as well as those with intrinsic cere
76 o explain the reduction in mRNA abundance in Friedreich's ataxia based on intermolecular triplex form
77 lled 592 patients with genetically confirmed Friedreich's ataxia between Sept 15, 2010, and April 30,
78                                          The Friedreich's ataxia cohort was subdivided into three gro
79 reduced in spinocerebellar ataxia type 6 and Friedreich's ataxia compared to matched controls (P-valu
80 t expansions found in myotonic dystrophy and Friedreich's ataxia confer variegation of expression on
81                                 The European Friedreich's Ataxia Consortium for Translational Studies
82                                 The European Friedreich's Ataxia Consortium for Translational Studies
83                          Within the European Friedreich's Ataxia Consortium for Translational Studies
84 onal Institute for Health Research, European Friedreich's Ataxia Consortium for Translational Studies
85  repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystroph
86 s for a prospective, international, European Friedreich's ataxia database registry.
87  can lead to gene inactivation, the cause of Friedreich's ataxia disease in humans.
88                                              Friedreich's ataxia (FA) is a debilitating, multisystemi
89                                              Friedreich's ataxia (FA) is a devastating, multi-systemi
90                                              Friedreich's ataxia (FA) is a leading form of hereditary
91                                              Friedreich's ataxia (FA) is a progressive, multisystem,
92                                              Friedreich's ataxia (FA) is an autosomal recessive disea
93  a diagnosis by Nikolaus Friedreich in 1863, Friedreich's ataxia (FA) is an autosomal recessive progr
94                                              Friedreich's ataxia (FA) is an inherited progressive neu
95                                              Friedreich's ataxia (FA) is caused by a variant of the F
96                                              Friedreich's ataxia (FA) is the most frequently inherite
97 otein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successf
98 r inherited mitochondrial disease, including Friedreich's ataxia (FA).
99 9 was recently 'excluded' as a candidate for Friedreich's ataxia following the identification of an e
100 cations for the design of clinical trials in Friedreich's ataxia, for which SARA might be the most su
101 nded GAA*TTC repeat sequence associated with Friedreich's ataxia (FRDA) adopts non-B DNA structures,
102                                              Friedreich's ataxia (FRDA) and ataxia with oculomotor ap
103 isms of reduced frataxin (FXN) expression in Friedreich's ataxia (FRDA) are linked to epigenetic modi
104 peats in intron 1 of the frataxin gene cause Friedreich's ataxia (FRDA) by reducing frataxin mRNA lev
105   Our discovery that plasmids containing the Friedreich's ataxia (FRDA) expanded GAA.TTC sequence, wh
106              The common clinical symptoms of Friedreich's ataxia (FRDA) include ataxia, muscle weakne
107                                              Friedreich's ataxia (FRDA) is a common hereditary degene
108                                              Friedreich's ataxia (FRDA) is a degenerative disease cau
109                                              Friedreich's ataxia (FRDA) is a devastating, multisystem
110                                              Friedreich's ataxia (FRDA) is a hereditary neurodegenera
111                                              Friedreich's ataxia (FRDA) is a human hereditary disease
112                                              Friedreich's ataxia (FRDA) is a neurodegenerative and ca
113                                              Friedreich's ataxia (FRDA) is a neurodegenerative diseas
114                                              Friedreich's ataxia (FRDA) is a neurodegenerative diseas
115                                              Friedreich's ataxia (FRDA) is a progressive disease affe
116                                              Friedreich's ataxia (FRDA) is a progressive neurodegener
117                                              Friedreich's ataxia (FRDA) is a severe multisystem disea
118                                              Friedreich's ataxia (FRDA) is a severe neurodegenerative
119                                              Friedreich's ataxia (FRDA) is an autosomal recessive deg
120                                              Friedreich's ataxia (FRDA) is an autosomal recessive dis
121                                              Friedreich's ataxia (FRDA) is an autosomal recessive neu
122                                              Friedreich's ataxia (FRDA) is an autosomal recessive neu
123                                              Friedreich's ataxia (FRDA) is an autosomal recessive neu
124                                              Friedreich's ataxia (FRDA) is an autosomal-recessive neu
125                                              Friedreich's ataxia (FRDA) is an incurable neurodegenera
126                                              Friedreich's ataxia (FRDA) is an inherited disorder caus
127                    The onset and progress of Friedreich's ataxia (FRDA) is associated with the geneti
128                                              Friedreich's ataxia (FRDA) is caused by biallelic expans
129                                              Friedreich's ataxia (FRDA) is caused by large GAA expans
130               The neurodegenerative disorder Friedreich's ataxia (FRDA) is caused by mutations in fra
131                                              Friedreich's ataxia (FRDA) is caused by point mutations
132                                              Friedreich's ataxia (FRDA) is caused primarily by expand
133                                              Friedreich's ataxia (FRDA) is the most common inherited
134                                              Friedreich's ataxia (FRDA) is the most common inherited
135                                              Friedreich's ataxia (FRDA) is the result of mutations in
136          The DNA abnormality found in 98% of Friedreich's ataxia (FRDA) patients is the unstable hype
137                                           In Friedreich's ataxia (FRDA) patients, diminished frataxin
138                 There were 383 patients with Friedreich's ataxia (FRDA), 205 patients with SCA and 16
139  in stem cell-derived endothelial cells from Friedreich's ataxia (FRDA), a genetic disease of FXN def
140 ure is the most common cause of mortality in Friedreich's ataxia (FRDA), a mitochondrial disease char
141            Mutations in Frataxin (FXN) cause Friedreich's ataxia (FRDA), a recessive neurodegenerativ
142                                              Friedreich's ataxia (FRDA), an autosomal recessive cardi
143  to influence the clinical manifestations of Friedreich's ataxia (FRDA), an autosomal recessive neuro
144  reduce the expression of frataxin and cause Friedreich's ataxia (FRDA), an autosomal recessive neuro
145 characterize the myocardium in patients with Friedreich's ataxia (FRDA), and the relationship between
146                                           In Friedreich's ataxia (FRDA), expanded GAA repeats in intr
147         Frataxin deficiency, responsible for Friedreich's ataxia (FRDA), is crucial for cell survival
148                                              Friedreich's ataxia (FRDA), the most common inherited at
149                                              Friedreich's ataxia (FRDA), the most common inherited at
150  (DM1), myotonic dystrophy type 2 (DM2), and Friedreich's ataxia (FRDA).
151 nd reduced levels lead to the human disease, Friedreich's ataxia (FRDA).
152 e are the principal mutation responsible for Friedreich's ataxia (FRDA).
153 d to the incurable neurodegenerative disease Friedreich's ataxia (FRDA).
154 the first intron of the frataxin gene causes Friedreich's ataxia (FRDA).
155 essive disorders, RFC1 spectrum disorder and Friedreich's ataxia (FRDA).
156 ession of the Frataxin gene (FXN) leading to Friedreich's ataxia (FRDA).
157  loss-of-function neurodegenerative disorder Friedreich's ataxia (FRDA).
158 of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this
159 enrolled patients with genetically confirmed Friedreich's ataxia from 11 European study sites in Aust
160 rimental system to analyze the mutability of Friedreich's ataxia (GAA)(n) repeats during chronologica
161             Trinucleotide repeats, including Friedreich's ataxia (GAA)(n) repeats, become pathogenic
162                                              Friedreich's ataxia (GAA)n repeats of various lengths we
163                     This region contains the Friedreich's Ataxia gene, raising the possibility that H
164 rch, as outlined by the recently established Friedreich's Ataxia Global Clinical Consortium, which co
165 n a parent does not exclude the diagnosis of Friedreich's ataxia in the offspring, and tests for the
166                          To characterize the Friedreich's ataxia intermediates, we generated massive
167                                              Friedreich's ataxia is a degenerative and progressive mu
168                                              Friedreich's ataxia is a devastating neurological diseas
169              We show that GAA instability in Friedreich's Ataxia is a DNA-directed mutation caused by
170                                              Friedreich's Ataxia is a genetic disease caused by expan
171                                              Friedreich's ataxia is a neurodegenerative disease cause
172                                              Friedreich's ataxia is a neurodegenerative disorder caus
173                                              Friedreich's ataxia is a progressive degenerative disord
174                                              Friedreich's ataxia is a rare autosomal recessive neurod
175                                              Friedreich's ataxia is a rare autosomal recessive neurod
176                                              Friedreich's ataxia is an incurable disease caused by fr
177                                              Friedreich's ataxia is an incurable genetic disorder cau
178                                              Friedreich's ataxia is associated with a deficiency in f
179    The progressive neurodegenerative disease Friedreich's ataxia is caused by a decreased level of ex
180                                              Friedreich's ataxia is caused by a triplet repeat expans
181                                              Friedreich's ataxia is caused by expansion mutations in
182                                              Friedreich's ataxia is caused by the massive expansion o
183                                              Friedreich's ataxia is increasingly recognised as a mult
184 ability to ameliorate frataxin deficiency in Friedreich's ataxia is warranted.
185 rs in Htt.Q111 Huntington's disease and YG8s Friedreich's ataxia mice resulted in efficient editing i
186 n = 12, age range 41-76 years, five female), Friedreich's ataxia (n = 12, age range 21-55 years, seve
187 years), whereas patients with Danon disease, Friedreich's ataxia, Noonan syndrome, and PRKAG2 cardiom
188 ply, due to diminished assembly as occurs in Friedreich's ataxia or defective distribution, causes se
189 differentiated somatic cells might influence Friedreich's ataxia pathogenesis.
190 s, consistent with a multi-step mechanism of Friedreich's ataxia pathophysiology, and suggesting alte
191  modulate the effects of oxidative stress on Friedreich's ataxia patients and, more in general, on ot
192                                              Friedreich's ataxia patients are homozygous for expanded
193                                           In Friedreich's ataxia patients there was a significant inv
194 )n found in intron 1 of the frataxin gene of Friedreich's ataxia patients.
195  restore the expression of frataxin (FXN) in Friedreich's ataxia patients.
196 tiple tissues obtained from six autopsies of Friedreich's ataxia patients.
197 oteins include mutations of frataxin causing Friedreich's ataxia, PINK1, DJ1 causing Parkinson's dise
198         Disease severity was assessed by the Friedreich's Ataxia Rating Scale (FARS).
199 netically confirmed FA and baseline modified Friedreich's Ataxia Rating Scale (mFARS) scores between
200 activities of daily living (ADL) part of the Friedreich's Ataxia Rating Scale and EQ-5D.
201 iquinone showing promise in the treatment of Friedreich's Ataxia, reacts at the flavin site.
202 TTC triplet repeats (responsible for DM1 and Friedreich's ataxia, respectively) can expand by genetic
203 he etiology of myotonic dystrophy type 1 and Friedreich's ataxia, respectively.
204                       Frataxin deficiency in Friedreich's ataxia results from transcriptional downreg
205 human subjects caused by the genetic disease Friedreich's ataxia results in decreased mitochondrial f
206 g1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasmi
207 in the homozygous state in atypical cases of Friedreich's ataxia, such as older age of onset, preserv
208 irst intron of the X25 (frataxin) gene cause Friedreich's ataxia, the most common inherited ataxia.
209                                              Friedreich's ataxia, the most prevalent hereditary ataxi
210                             In families with Friedreich's Ataxia, the only recessive trinucleotide di
211  comparing spinocerebellar ataxia type 6 and Friedreich's ataxia to matched controls (P < 0.01, boots
212  or the ataxia phenotype of a mouse model of Friedreich's ataxia under normoxic conditions.
213             Fragile X mental retardation and Friedreich's ataxia were among the first pathogenic trin
214 emale patients (aged 18 years or older) with Friedreich's ataxia were given single doses (phase 1) an
215 ty-six patients with a clinical diagnosis of Friedreich's ataxia were investigated for the GAA trinuc
216          Patients with genetically confirmed Friedreich's ataxia were seen annually at 11 clinical ce
217  deficiency of this protein in humans causes Friedreich's ataxia, while its complete absence in yeast
218  function have a role in the pathogenesis of Friedreich's ataxia, Wilson's disease and hereditary spa
219 ry outcome, 190 (95 per group) patients with Friedreich's ataxia would be needed, and fewer patients

 
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