ライフサイエンスコーパス: repeat expansion

1 s, which may give rise to disease-associated repeat expansion.

2 0.2) years, and 37 of them carried a C9ORF72 repeat expansion.

3 cases with FECD (69.7%) harbored the triplet repeat expansion.

4 ntingtin protein (mHTT) with a polyglutamine-repeat expansion.

5 ical/neuromuscular disease associated with a repeat expansion.

6 various models of FTD/ALS with GGGGCC (G4C2) repeat expansion.

7 imilar cells from FECD patients who lack the repeat expansion.

8 lly targeted to the newly discovered C9orf72 repeat expansion.

9 er resulted in prevention and attenuation of repeat expansion.

10 important implications for the mechanism of repeat expansion.

11 Two individuals harbored the C9ORF72 repeat expansion.

12 rotein-coding sequence evolved through a CAG repeat expansion.

13 ify candidate binding partners of the GGGGCC repeat expansion.

14 hairpin can remove the hairpin, attenuating repeat expansion.

15 NA silencing of MSH2 impeded CTG.CAG triplet-repeat expansion.

16 hesis is considered a major path for CAG/CTG repeat expansion.

17 mutations, that is, IT15 gene trinucleotide-repeat expansion.

18 generative disorder cause by a trinucleotide repeat expansion.

19 ide polymorphisms (SNPs) associated with the repeat expansion.

20 ta, thereby leading to hairpin retention and repeat expansion.

21 8.95%) of 4925 ALS cases carried the C9orf72 repeat expansion.

22 reover, longer repeats showed faster triplet-repeat expansion.

23 ects) were shown to carry the hexanucleotide repeat expansion.

24 second-degree relatives) carried the C9orf72 repeat expansion.

25 HDL2 is caused by a CTG/CAG repeat expansion.

26 and MSH3, is known to have a role in CAG.CTG repeat expansion.

27 esymptomatic individuals who carry a C9orf72 repeat expansion.

28 confirming a proposed mechanism for triplet repeat expansion.

29 h frontotemporal dementia due to the C9orf72 repeat expansion.

30 ion, identifying a role for recombination in repeat expansion.

31 nction, with the inherent risk of pathogenic repeat expansions.

32 d correctly flagged all but one of the known repeat expansions.

33 families showed large C9orf72 hexanucleotide repeat expansions.

34 unconventional initiation at disease-causing repeat expansions.

35 ess of 30 were considered to have pathogenic repeat expansions.

36 by flap endonuclease 1 (FEN1) to mediate CAG repeat expansions.

37 ty of clinical presentations associated with repeat expansions.

38 beta on during DNA synthesis induces CAG/CTG repeat expansions.

39 that can be used to identify new pathogenic repeat expansions.

40 mples carrying chromosome 9 ORF 72 (C9orf72) repeat expansions.

41 ] per additional year; p=0.0476), and longer repeat expansions (0.06 [SE 0.02] per additional repeat

42 Forty-seven participants with the repeat expansion (55.3%) had undergone keratoplasty at t

43 Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within th

44 Premutation CGG repeat expansions (55-200 CGG repeats; preCGG) within th

45 i Peninsula ALS cases had pathogenic C9orf72 repeat expansions, a genotype that causes ALS in Western

46 m of mental retardation, a CGG trinucleotide-repeat expansion adjacent to the fragile X mental retard

47 der that affects carriers of premutation CGG-repeat expansion alleles of the fragile X mental retarda

48 Repeat expansions, also present in other neurodegenerati

49 incident ALS were genotyped for the C9orf72 repeat expansion and 132 age- and sex-matched controls w

50 sis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases.

51 within this region, we measured the rates of repeat expansion and contraction using novel reporters a

52 strains), suggesting a balancing act between repeat expansion and contraction.

53 ificity may require a similar combination of repeat expansion and tailored amino acid variation.

54 ts, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were fo

55 The increased length results from tandem repeat expansions and an unusual 13 kb IR-SSC boundary s

56 Both repeat expansions and contractions are observed, and rep

57 s, small indels (10-50 bp), and short tandem repeat expansions and contractions.

58 t strands to prevent recombination-dependent repeat expansions and contractions.

59 repair protein function in mediating triplet repeat expansions and discuss potential therapeutic appr

60 e used to accurately detect known pathogenic repeat expansions and provides researchers with a tool t

61 D and highlights the importance of noncoding repeat expansions and RNA toxicity in neurodegenerative

62 the 'stem/progenitor' cells that allow this repeated expansion and renewal.

63 n relatives of ALS patients with the C9orf72 repeat expansion, and 2.3 (p=0.019) in relatives of ALS

64 were required to prevent Rad5-dependent CAG repeat expansions, and H4K16 acetylation was enriched at

65 owever, it is unclear whether the effects of repeat expansion are unique to these specific sequences

66 Longer repeat expansions are associated with genetic anticipati

67 These repeat expansions are currently the most important genet

68 Clinical phenotypes associated with these repeat expansions are highly variable, and combinations

69 C9orf72 hexanucleotide repeat expansions are the most common cause of familial

70 configurational slippage that often leads to repeat expansion associated with neurological diseases.

71 HFMs carry a full CGG repeat expansion but exhibit an unmethylated promoter an

72 o determined that RAD52 is necessary for CTD repeat expansion but not contraction, identifying a role

73 -/- cells are severely defective for CTG*CAG repeat expansions but show full activity on contractions

74 t is pronounced in kindreds with the C9orf72 repeat expansion, but is also present in kindreds of tho

75 anticipation in families carrying a C9orf72 repeat expansion by analyzing age at onset, disease dura

76 anticipation in families carrying a C9orf72 repeat expansion by means of a decrease in age at onset

77 mined the presence or absence of the C9orf72 repeat expansion by repeat-primed polymerase chain react

78 Recent studies have demonstrated that CAG repeat expansions can be initiated by oxidative DNA base

79 Nucleotide repeat expansions can elicit neurodegeneration as RNA by

80 her polyglutamine diseases, suggest that CAG repeat expansions can promote aberrant splicing to produ

81 rons transdifferentiated from fibroblasts of repeat expansion carriers.

82 otype with disease, and clinical features of repeat expansion carriers.

83 CTG*CAG repeat expansions cause at least twelve inherited neurol

84 Repeat expansions cause dominantly inherited neurologica

85 by unconventional translation of the C9orf72 repeat expansions cause neurodegeneration in cell cultur

86 It has been reported that the repeat expansion causes a downregulation of C9orf72 tran

87 grade was 5.61 (0.76) in the group with the repeat expansion compared with 5.11 (1.05) in the group

88 mer Disease Family Study series, the C9orf72 repeat expansions constituted the second most common pat

89 is unknown, as is the mechanism by which the repeat expansion could cause disease.

90 Here we show that repeat expansions create templates for multivalent base-

91 ating interaction between gender and C9orf72 repeat expansions demonstrated that the reduced survival

92 O) therapeutics to the C9ORF72 transcript or repeat expansion despite the presence of repeat-associat

93 umina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping.

94 echanism by which the C9orf72 hexanucleotide repeat expansion directs C9ALS/FTD pathogenesis remains

95 Fragile X-associated disorders are Repeat Expansion Diseases that result from expansion of

96 tes termed RNA foci, a hallmark of noncoding repeat expansion diseases, have been shown to sequester

97 the neuron death observed in the nucleotide repeat expansion diseases.

98 Epigenetic gene silencing is seen in several repeat-expansion diseases.

99 a convergence of pathogenic cascades between repeat expansion disorders and RNA-binding proteins impl

100 genetic disease (monogenic, epigenetic, and repeat expansion disorders), and the approach to therapy

101 glutamine diseases and could extend to other repeat expansion disorders.

102 the most prevalent member of a family of CAG repeat expansion disorders.

103 Ten cases with C9orf72 repeat expansion displayed the same sequential spreading

104 The presence of the C9orf72 repeat expansion does not fully account for this finding

105 on of C9ORF72 and the mechanism by which the repeat expansion drives neuropathology are unknown.

106 These findings support a model whereby repeat expansions elicit cellular stress conditions that

107 l neurodegenerative disorder caused by a CAG repeat expansion encoding a polyglutamine tract in the h

108 opulation with this (CTG.CAG)n trinucleotide repeat expansion exceeds that of the combined number of

109 C9orf72 repeat expansions explain a small proportion of patients

110 an cellular model that recapitulates the DNA repeat expansion found in FRDA patient tissues.

111 GAC repeat expansion from five to seven in the exonic region

112 2, ATXN3, ATXN7, TBP and CACNA1A and the CAG repeat expansion gene PPP2R2B.

113 INTRODUCTION: The C9orf72 repeat expansion has been reported as a negative prognos

114 The C9orf72 repeat expansion has been reported as a negative prognos

115 eporter construct models for GAA.TTC triplet-repeat expansion have been reported, studies on FRDA pat

116 C9ORF72 repeat expansions have a primary role in increasing the

117 Repeat expansions have also been detected infrequently i

118 Tetranucleotide TTTA and CCTG repeat expansions have been known to cause reduction in

119 rodegenerative diseases caused by nucleotide repeat expansion, have highlighted or identified two for

120 A hexanucleotide repeat expansion (HRE), (GGGGCC)n, in C9orf72 is the mos

121 his case-control study genotyped the C9orf72 repeat expansion in 872 unrelated familial AD cases and

122 The GGGGCC (G4C2) repeat expansion in a noncoding region of C9orf72 is the

123 To elucidate the consequences of G4C2 repeat expansion in a tractable genetic system, we gener

124 mark discovery of the C9ORF72 hexanucleotide repeat expansion in ALS/FTD, a transgenic mouse model ha

125 Polyglutamine repeat expansion in ataxin-3 causes neurodegeneration in

126 the CpG island located at the 5' end of the repeat expansion in blood, frontal cortex, and spinal co

127 s may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumu

128 A repeat expansion in C9ORF72 causes frontotemporal dement

129 urons produced from ALS patients harboring a repeat expansion in C9orf72 indicates that at least a su

130 The G(4)C(2)-repeat expansion in C9orf72 is a common cause of frontot

131 The repeat expansion in C9ORF72 is a common cause of FTLD an

132 A noncoding hexanucleotide repeat expansion in C9orf72 is the most common cause of

133 A (G4C2)n repeat expansion in C9ORF72 is the most common genetic c

134 ENTIFIC COMMENTARY ON THIS ARTICLE: A GGGGCC repeat expansion in C9orf72 leads to frontotemporal deme

135 Hexanucleotide repeat expansion in C9orf72 represents the most common g

136 Recently, a repeat expansion in C9orf72 was identified as the causal

137 Since the discovery that a noncoding repeat expansion in C9orf72 was responsible for chromoso

138 and amyotrophic lateral sclerosis is a G4C2 repeat expansion in C9ORF72.

139 We have addressed the genetics of CAG.CTG repeat expansion in E. coli and shown that these repeat

140 xamined the prognostic impact of the C9orf72 repeat expansion in European subgroups based on gender a

141 It is caused by a CAG repeat expansion in exon 1 of the HTT gene that translat

142 with high-throughput sequencing that the GAA-repeat expansion in FRDA cells stimulates a higher-order

143 polymorphism (SNP) variant that is linked to repeat expansion in haplogroup D and a replication origi

144 is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other

145 ty-eight patients carried a pathological CAG repeat expansion in HTT, whereas 28 patients (12 women a

146 reflects the dominant consequences of a CAG-repeat expansion in HTT.

147 a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP.

148 A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the

149 insight into a general mechanism of triplet-repeat expansion in iPSCs.

150 The CTG18.1 triplet repeat expansion in TCF4 has recently been found to be a

151 eater in FECD cases with the CTG18.1 triplet repeat expansion in TCF4 than in those without the expan

152 ondition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence of the FMR1 g

153 r ataxia syndrome (FXTAS) results from a CGG repeat expansion in the 5' UTR of FMR1.

154 ative disorder caused by a CGG trinucleotide repeat expansion in the 5' UTR of the Fragile X gene, FM

155 A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental r

156 ciated tremor/ataxia syndrome (FXTAS), a CGG repeat expansion in the 5'UTR of the fragile X gene (FMR

157 nked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, whi

158 rder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene.

159 nant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene.

160 order caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene.

161 Hexanucleotide repeat expansion in the bi-directionally transcribed C9o

162 PRn) poly-dipeptide encoded by the (GGGGCC)n repeat expansion in the C9orf72 form of heritable amyotr

163 The identification of a hexanucleotide repeat expansion in the C9ORF72 gene as the cause of chr

164 A GGGGCC hexanucleotide repeat expansion in the C9orf72 gene is the most common

165 A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common

166 A noncoding repeat expansion in the C9orf72 gene is the most common

167 A hexanucleotide repeat expansion in the C9orf72 gene is the most common

168 d recent findings show that a hexanucleotide repeat expansion in the C9ORF72 gene may account for >30

169 neration, was found to have a hexanucleotide repeat expansion in the C9ORF72 gene.

170 finding that a GGGGCC (G4C2) hexanucleotide repeat expansion in the chromosome 9 ORF 72 (C9ORF72) ge

171 disorder caused by a trinucleotide (CAG)(n) repeat expansion in the coding sequence of the huntingti

172 Polyglutamine (polyQ) repeat expansion in the deubiquitinase ataxin-3 causes n

173 ost prevalent of these mutations is a GGGGCC repeat expansion in the first intron of C9ORF72 As shown

174 A hexanucleotide repeat expansion in the first intron of C9ORF72 has been

175 f the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene

176 Fragile X syndrome (FXS) is caused by a CGG repeat expansion in the FMR1 gene that appears to occur

177 ases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene.

178 HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene, translati

179 ative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which enc

180 HD is caused by a CAG repeat expansion in the huntingtin (HTT) gene, while HDL

181 Huntington's disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.

182 ative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene.

183 Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT.

184 d neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.

185 l neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.

186 The CAG repeat expansion in the Huntington's disease gene HTT ex

187 r caused by a pathological CAG trinucleotide repeat expansion in the large multi-exon gene, huntingti

188 al disorders are linked to tandem nucleotide repeat expansion in the mutated gene.

189 otonic dystrophy (DM) is caused by a triplet repeat expansion in the non-coding region of either the

190 A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72

191 OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N

192 ive disease caused by a pathogenic glutamine repeat expansion in the protein ataxin-1 (ATXN1).

193 is with an intronic (CTG.CAG)n trinucleotide repeat expansion in the TCF4 gene, which is found in the

194 ALS has recently been mapped to a non-coding repeat expansion in the uncharacterized gene C9ORF72.

195 ocytes cell-autonomously, we manipulated the repeat expansion in the variant SCA3 knock-in mouse by c

196 ing sequences have arisen via the process of repeat expansion in this protein.

197 Hexanucleotide (GGGGCC) repeat expansions in a noncoding region of C9ORF72 are t

198 termined the frequency of the hexanucleotide repeat expansions in a population of 651 FTLD patients a

199 To study pathogenic mechanisms of CCUG-repeat expansions in an animal model, we created a fly m

200 Hexanucleotide repeat expansions in C9orf72 are a major cause of fronto

201 Hexanucleotide repeat expansions in C9orf72 are the most common cause o

202 GGGGCC repeat expansions in C9ORF72 are the most common genetic

203 Patients with hexanucleotide repeat expansions in C9orf72 can present with MSA as wel

204 How hexanucleotide (GGGGCC) repeat expansions in C9ORF72 cause amyotrophic lateral s

205 Hexanucleotide repeat expansions in C9ORF72 cause neurodegeneration in

206 All participants had GGGGCC repeat expansions in C9ORF72, and high quality DNA was a

207 rotein unconventionally translated from G4C2 repeat expansions in C9ORF72, are abundant in patients w

208 lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72.

209 neurologic presentations with hexanucleotide repeat expansions in C9orf72.

210 Hexanucleotide repeat expansions in chromosome 9 open reading frame 72

211 large inverted segments and short nucleotide repeat expansions in diseases such as hemophilia A, frag

212 Microsatellite repeat expansions in DNA produce pathogenic RNA species

213 Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leadi

214 Huntington disease phenocopies without CAG repeat expansions in HTT are not rare, occurring in 12.4

215 evidence for the continuous accumulation of repeat expansions in non-dividing cells.

216 Identification of C9orf72 repeat expansions in patients without a family history o

217 Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinoce

218 CUG repeat expansions in the 3' UTR of dystrophia myotonica

219 taxia Syndrome, result from unmethylated CGG repeat expansions in the 5' untranslated region (UTR) of

220 produces toxic polypeptides from nucleotide repeat expansions in the absence of an AUG start codon a

221 SBMA is caused by CAG-polyglutamine (polyQ) repeat expansions in the androgen receptor (AR) gene.

222 Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest

223 The recent discovery that expression of repeat expansions in the C9orf72 gene may induce RNA foc

224 Hexanucleotide repeat expansions in the chromosome 9 open reading frame

225 Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96

226 erative disorder caused by CGG trinucleotide repeat expansions in the fragile X mental retardation 1

227 Huntington's disease is caused by CAG repeat expansions in the HTT gene, which encodes the hun

228 Although dominant gain-of-function triplet repeat expansions in the Huntingtin (HTT) gene are the u

229 n vitro and large-scale trinucleotide (GAA)n repeat expansions in vivo, implying failed phosphate-ste

230 An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic ca

231 sample had one of eight different pathogenic repeat expansions, including those associated with fragi

232 a significant number of proteins, and their repeat expansion is associated with a number of genetic

233 red BRC repeat numbers, we show that the BRC repeat expansion is crucial for RAD51 subnuclear dynamic

234 most Friedreich ataxia patients, a large GAA-repeat expansion is present within the first intron of b

235 dies show that a primary consequence of G4C2 repeat expansion is the compromise of nucleocytoplasmic

236 A gain-of-function of these pathogenic repeat expansions is mediated at least in part by their

237 le DNA repair has been implicated in CAG.CTG repeat expansion, its role in the GAA.TTC expansion of F

238 d neurodegenerative disorder caused by a CAG repeat expansion leading to an elongated polyglutamine s

239 Patients carrying a C9orf72 repeat expansion leading to frontotemporal dementia and/

240 The C9orf72 hexanucleotide repeat expansion led to haploinsufficiency resulting in

241 This property is shared with a fly CUG-repeat expansion model.

242 was an early event in FUS as well as C9ORF72 repeat expansion models of ALS, and that serial imaging

243 (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT.

244 1 (FMR1), is silenced in most cases by a CGG-repeat expansion mutation in the 5' untranslated region

245 A hexanucleotide repeat expansion mutation in the C9orf72 gene represents

246 Fragile X syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter an

247 ights into novel mechanistic pathways of DNA repeat expansion mutations.

248 be the structural intermediates that lead to repeat expansion mutations.

249 ) of a protein associated with polyglutamine repeat expansion, namely Huntingtin, and characterized i

250 apture method to determine the exact triplet repeat expansion number in the Huntington's gene of geno

251 ts with amyotrophic lateral sclerosis with a repeat expansion of C9orf72 (C9orf72+), but not from tho

252 f72+), but not from those patients without a repeat expansion of C9orf72 (C9orf72-) or control subjec

253 His father, who carried the hexanucleotide repeat expansion of C9ORF72 gene, had spinal ALS and FTD

254 tation of TARDBP gene and the hexanucleotide repeat expansion of C9ORF72 gene.

255 A GGGGCC hexanucleotide repeat expansion of C9ORF72 has recently been identified

256 Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS.

257 er uncle with ALS have full pathological CAG repeat expansions of ATXN2.

258 GGGGCC repeat expansions of C9orf72 represent the most common g

259 These introns are defined by simple repeat expansions of complementary AC and GT dimers that

260 m for interaction between the pathogenic RNA repeat expansions of myotonic dystrophy and MBNL1.

261 Repeat expansions of this type have been associated with

262 The Arabian Margin record demonstrates the repeated expansion of ferruginous conditions with the di

263 res of the C9orf72 repeat may participate in repeat expansions or pathogenesis of amyotrophic lateral

264 in the vector with an approximately 310 GAA repeat expansion (pBAC-FXN-GAA-Luc).

265 Patients with C9ORF72 hexanucleotide repeat expansions present some phenotypic differences co

266 The discovery of C9ORF72 repeat expansions provides novel insights into the patho

267 DM2 that expresses pure, uninterrupted CCUG-repeat expansions ranging from 16 to 720 repeats in leng

268 Hexanucleotide repeat expansions represent the most common genetic caus

269 ading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the under

270 The TCF4 triplet repeat expansion resulted in a more severe form of FECD,

271 and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed an

272 C9(+)] patients, and antisense GGCCCC (G2C4) repeat-expansion RNAs accumulate in nuclear foci in brai

273 r structure as a fragment containing the GAA-repeat expansion showed an increased interaction frequen

274 s (DPRs) derived from C9orf72 hexanucleotide repeat expansions similarly undergo LLPS and induce phas

275 HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretch in

276 Fragile X syndrome (FXS) is caused by CGG repeat expansion that leads to FMR1 silencing.

277 Here we analyze RAN translation at G4C2 repeat expansions that cause C9orf72-associated amyotrop

278 ir has been implicated as a cause of triplet repeat expansions that cause neurological diseases such

279 llar ataxia type 3 (SCA3), are caused by CAG repeat expansions that encode abnormally long glutamine

280 Thus, our data link trinucleotide-repeat expansion to a form of RNA-directed gene silencin

281 n through the repeats, which could result in repeat expansion to the FXS full mutation.

282 were targeted to the C9orf72 hexanucleotide repeat expansion to upregulate normal variant 1 transcri

283 These non-coding tandem repeat expansions trigger the production of unusual RNAs

284 omosomal rearrangements and short nucleotide repeat expansions using engineered nucleases in human in

285 m symptom onset among cases carrying C9ORF72 repeat expansion was 3.2 years lower than that of patien

286 The pathogenic repeat expansion was detected in 39 (6%) patients with F

287 The CACNA1A CAG repeat expansion was excluded.

288 extended Belgian families in which a C9orf72 repeat expansion was segregating.

289 logistic regression, the presence of C9ORF72 repeat expansions was the strongest determinant of FTD (

290 To investigate the mechanism of repeat expansion, we examined the relationship between a

291 yo Clinic Florida in whom the hexanucleotide repeat expansion were found.

292 Pathogenic repeat expansions were detected in 45 (37.5%) patients f

293 We conclude that C9ORF72 hexanucleotide repeat expansions were the most frequent mutation in our

294 oinciding with bursts of transposon-mediated repeat expansions, were crucial for the post-Ss4R redipl

295 f DNA mismatch repair involvement in triplet repeat expansion, which encompasses in vitro biochemical

296 tive disorder, caused by a CAG/polyglutamine repeat expansion, which is associated with a dysregulati

297 been tested for the presence of the C9orf72 repeat expansion with repeat-primed PCR (RP-PCR).

298 e neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding huntingt

299 enerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HT

300 A pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identi