ライフサイエンスコーパス: stutter

1 on where the TW is intermittently halted or "stuttered".

2 s and pentaSTRs, respectively) that have low stutter.

3 and also by deletions that remove the heptad stutter.

4 ons similar to speech deficits of humans who stutter.

5 al premotor cortex was reduced in people who stutter.

6 anguage areas in a group of young people who stutter.

7 ganglia or excessive dopamine in people who stutter.

8 llum in the fluent utterances of persons who stutter.

9 in enabling fluent utterances in persons who stutter.

10 gations of speech production in children who stutter.

11 fluent speech production in individuals who stutter.

12 in the speech neural networks of adults who stutter.

13 ; and (2) the high rate of STR amplification stutter.

14 us) are also present in younger children who stutter.

15 ajor perisylvian brain areas in children who stutter.

16 ta examining neural networks in children who stutter.

17 arly phases of symptom onset in children who stutter.

18 disorders such as articulation disorder and stuttering.

19 functional imaging studies in developmental stuttering.

20 eficits in interhemispheric communication in stuttering.

21 at implicate auditory processing problems in stuttering.

22 anguage tasks designed to evoke or attenuate stuttering.

23 persons who stutter, even in the absence of stuttering.

24 icospinal tract, as previously implicated in stuttering.

25 autosomal dominant inheritance of persistent stuttering.

26 so increased syllable repetitions similar to stuttering.

27 dysfunction, both of which are implicated in stuttering.

28 red insights into genetic factors underlying stuttering.

29 sosomal pathway proteins have been linked to stuttering.

30 nique insight into the brain regions causing stuttering.

31 progression and persistence of developmental stuttering.

32 d circuitry contribute to the many facets of stuttering.

33 amily with an autosomal dominantly inherited stuttering.

34 e a chaperone protein in the pathogenesis of stuttering.

35 tions and silent pauses reminiscent of human stuttering.

36 -based network was relevant to developmental stuttering.

37 tudy of children and adults with and without stuttering.

38 ts in unrelated Cameroonians with persistent stuttering.

39 that may lead to recovery versus persistent stuttering.

40 product of a gene previously associated with stuttering.

41 s in intracellular trafficking in persistent stuttering.

42 disorder, specific language impairment, and stuttering.

43 vity of the circuit might be associated with stuttering.

44 have examined the neural bases of childhood stuttering.

45 en identified in individuals with persistent stuttering.

46 7 children [40 controls (20 females), 37 who stutter (16 females)] between 3 and 10 years of age.

47 cluded 252 individuals exhibiting persistent stuttering, 45 individuals classified as recovered from

48 e hypothesis for signaling across the heptad stutter adjacent to the HAMP domain in methyl-accepting

49 a distinct timing mechanism compared to non-stuttering adults.

50 Stuttering affects approximately 1 in 100 adults and can

51 Stuttering affects nearly 1% of the population worldwide

52 erconnect them, differ in young children who stutter (aged 3-9 years) compared with age-matched peers

53 Children who stutter also exhibit poorer auditory rhythm discriminati

54 as removal of separated heptads and presumed stutters also resulted in signal reversion.

55 Stuttering, also known as stammering, has been linked to

56 se quantitative maps in 41 men and women who stutter and 32 individuals who are typically fluent reve

57 mple method of correction for the effects of stutter and differential amplification on the analysis o

58 %-3.2%) when marker-specific corrections for stutter and differential amplification were performed.

59 perm DNA were largely the consequence of PCR stutter and not mutations.

60 ohorts were studied: 10 right-handed men who stuttered and 10 right-handed, age- and sex-matched non-

61 Thirty-two children (16 stuttering and 16 controls) aged 7-11 years participated

62 and adolescents aged 5 to 17 years (22 with stuttering and 25 without) and 47 adults aged 21 to 51 y

63 ) and 47 adults aged 21 to 51 years (20 with stuttering and 27 without) were recruited between June 2

64 show a potential link between developmental stuttering and changes in the gut microbiota, laying the

65 tively correlated with syllables in both the stuttering and control cohorts.

66 The mean (SD) ages of those in the stuttering and control groups were 12.2 (4.2) years and

67 lies, some members of which had nonsyndromic stuttering and in unrelated case and control subjects fr

68 ed beat, suggesting a potential link between stuttering and non-speech rhythm perception.

69 WS), however, data supporting a link between stuttering and poorer auditory rhythm discrimination has

70 these quantitative measures in developmental stuttering and provides new evidence of microstructural

71 For both stutters and syllables, the brain regions that were corr

72 45 individuals classified as recovered from stuttering, and 19 individuals too young to classify.

73 cal correlates including conduction aphasia, stuttering, and aspects of schizophrenia.

74 the neuroanatomical bases of early childhood stuttering, and possible white matter developmental chan

75 l disorders, including poor vocal imitation, stuttering, and progressive syntax and syllable degradat

76 spiking, rapidly adapting spiking, transient stuttering, and transient slow-wave bursting) and 4 stea

77 g-held theories that the brain correlates of stuttering are the speech-motor regions of the non-domin

78 eats (SSRs), sometimes described as genetic 'stutters,' are DNA tracts in which a short base-pair mot

79 riking dominance of unappreciated polymerase stutter artefacts in all 218 chromatograms analyzed, cha

80 luding application of correction methods for stutter artifact and preferential amplification.

81 hich give distinct bands with no increase in stutter artifact on di-, tri-, and tetranucleotide repea

82 allele stacking; and differentiation of PCR stutter artifacts from true alleles.

83 filing of microsatellites incur significant "stutter" artifacts that interfere with accurate genotypi

84 test challenge for microsatellite profiling-"stutter" artifacts-with a low-temperature hybridization

85 sily through ICD-10 diagnosis codes, whereas stuttering as a speech phenotype was coded in only 12% o

86 bidities enriched in individuals affected by stuttering as predicting features and imputing stutterin

87 inherent ability of the viral polymerase to stutter at the poly(U) stretch of a viral RNA template d

88 a 2.3% to 3.0% lower proportion of syllables stuttered at 9 months compared with the control group wh

89 s, is believed to polyadenylate the mRNAs by stuttering at a stretch of five to seven uridine residue

90 e high processivity of the enzyme eliminates stuttering at homopolymer tracts.

91 miting GTP (1 microM) resulted in polymerase stuttering at the 3' margin of the T-run, immediately pr

92 n who stutter demonstrates that in childhood stuttering, atypical functional organization for speech

93 For adults who stutter (AWS), however, data supporting a link between s

94 lleles of the STR locus vWA reveals that the stutter band lacks one repeat unit relative to the main

95 main allele band; this is referred to as the stutter band.

96 Sequence analysis of the main and stutter bands for two sample alleles of the STR locus vW

97 , the discrimination of true alleles versus "stutter bands," and the use of radionucleotides in detec

98 trophysiological techniques reveal the often-stuttering behavior of single pores in non-neuronal cell

99 parisons identified other examples of heptad stutters between a HAMP domain and a contiguous coiled-c

100 n GNPTAB occurred in unrelated subjects with stuttering but not in control subjects.

101 inically ascertained sample of developmental stuttering cases validate our GWAS findings in PheML-imp

102 er a missense mutation associated with human stuttering causes vocal or other abnormalities in mice.

103 degree of heterogeneity in transmission from stuttering chain data have important applications in dis

104 lamocortical networks develop differently in stuttering children, which may in turn affect speech pla

105 syllable rate were far more extensive in the stuttering cohort than in the control cohort, which sugg

106 namic responses in the group of children who stutter compared to the control group.

107 Next, we examine the noise, allele, and stutter components of the signal and develop distinct mo

108 Our observations suggest a model of "stuttering conduction": repeated action potential stimul

109 nd 10 right-handed, age- and sex-matched non-stuttering controls.

110 on levels in brain tissue in individuals who stutter could reflect elevated dopamine levels or lysoso

111 reotypy seen in crystallized song, including stuttering, creation, deletion and distortion of song sy

112 connected speech production in children who stutter demonstrates that in childhood stuttering, atypi

113 This spectroscopy study of stuttering demonstrates brainwide neurometabolite altera

114 inuous coiled-coil marked by a heptad repeat stutter discontinuity at the distal boundary of HD2.

115 es, suggesting a large portion of people who stutter do not have a record of diagnosis within the EHR

116 d the possible neural bases of developmental stuttering during childhood.

117 Therefore, stutter elements may be broadly important for HAMP funct

118 discrimination compared to peers who do not stutter, especially for complex rhythms without a consis

119 ay be fundamentally different in persons who stutter, even in the absence of stuttering.

120 gyrus and left premotor cortex, children who stutter exhibited deactivation over these left hemispher

121 Children who stutter exhibited significantly reduced fractional aniso

122 te stimulus intensities, showed irregular or stuttering firing patterns.

123 3) fast-firing interneurons (n = 10), and 4) stutter-firing interneurons (n = 14).

124 monstrated that over 60% of burst-firing and stutter-firing interneurons also expressed the calcium-b

125 Moreover, we demonstrate that the burst- and stutter-firing patterns positively correlate with PV(+)

126 single study cohort with acquired neurogenic stuttering following stroke (n = 20, 13 males/seven fema

127 published literature of acquired neurogenic stuttering following stroke (n = 20, 14 males/six female

128 purely to impairments in the motor system as stuttering frequency is increased by linguistic factors,

129 ered by speech-language pathologists reduced stuttering frequency.

130 uishing technical error due to amplification stutter from somatic STR mutations.

131 ventional MRI brain scans in individuals who stutter has failed to yield strong support for this theo

132 the hypothesis that the genetic component to stuttering has significant sex effects.

133 Results showed that children who stutter have attenuated connectivity in neural networks

134 of motor circuitry has advanced, theories of stuttering have become more anatomically specific, postu

135 ed in this disorder, and previous studies of stuttering have identified linkage to markers on chromos

136 into module iteration, also referred to as "stuttering", have been derived through in vivo and in vi

137 e of a coiled coil discontinuity called the "stutter." Here, we have used electron cryomicroscopy (cr

138 The etiology of stuttering, however, remains enigmatic.

139 f evidence suggest a genetic contribution to stuttering; however, the complex inheritance of this dis

140 tion of one to three heptads plus a presumed stutter, i.e. 1, 2, or 3 x 7 + 4 amino acids, is require

141 t association between grey matter volume and stuttering impact for adults with persistent development

142 Affecting 1% of the general population, stuttering impairs the normally effortless process of sp

143 Theoretical accounts of developmental stuttering implicate dysfunctional cortico-striatal-thal

144 3 and 332, on the amino-terminal side of the stutter in helix 2B, which is involved in heterotypic as

145 ve of higher iron content in individuals who stutter in the left putamen and in left hemisphere corti

146 er interaction within the complex involved a stutter in the TACC3 coiled-coil and a proposed novel si

147 he first neuroimaging study of developmental stuttering in a family with autosomal dominant inheritan

148 t co-segregate with persistent developmental stuttering in a large Cameroonian family, and we observe

149 NPT [EC 2.7.8.15]), that was associated with stuttering in a large, consanguineous Pakistani family.

150 rther intimate neurometabolic aberrations in stuttering in brain circuits subserving self-regulation

151 study indicates a possible partial basis of stuttering in circuits enacting self-regulation of motor

152 exhibit atypical vocalizations analogous to stuttering in humans.

153 T (p.Pro270Ser) variant that segregated with stuttering in the family.

154 act for adults with persistent developmental stuttering in the left posteroventral putamen, extending

155 n Broca's area and the striatum underpinning stuttering in these individuals.

156 validated the genetic risk of self-reported stuttering in two independent datasets.

157 ctural connectivity deficits in children who stutter, in interrelated neural circuits that enable ski

158 or linkage of the broader diagnosis of "ever stuttered" (including both persistent and recovered stut

159 -of-function variants, in AP4E1 in unrelated stuttering individuals in Cameroon, Pakistan, and North

160 igher in unrelated Pakistani and Cameroonian stuttering individuals than in population-matched contro

161 Stuttering induced widespread overactivations of the mot

162 Apart from 34 of these patients who had a stuttering infarction and were referred for reperfusion,

163 calcium spikes, whereas X94 GFP+ cells were stuttering interneurons with quasi fast-spiking properti

164 s improved expressive language skills, and a stuttering intervention delivered by speech-language pat

165 76) evaluating the Lidcombe Program of Early Stuttering Intervention delivered by speech-language pat

166 alpha and beta (GNPTAB) found in humans who stutter into the mouse Gnptab gene resulted in deficits

167 Stuttering is a common and sometimes severe communicatio

168 Stuttering is a common neurodevelopmental disorder that

169 Stuttering is a common speech disorder that interrupts s

170 Stuttering is a common, highly heritable neurodevelopmen

171 Developmental stuttering is a complex neurodevelopmental disorder char

172 Developmental stuttering is a condition of speech dysfluency, characte

173 Thus stuttering is a disorder affecting the multiple neural s

174 Stuttering is a disorder of unknown cause characterized

175 Our data support the conclusion that stuttering is a disorder related primarily to disruption

176 Developmental stuttering is a highly heritable, common speech conditio

177 Stuttering is a neurodevelopmental condition characteriz

178 Developmental stuttering is a neuropsychiatric condition of incomplete

179 Developmental stuttering is a speech disorder characterized by disrupt

180 Stuttering is a speech disorder long recognized to have

181 Susceptibility to nonsyndromic stuttering is associated with variations in genes govern

182 Typically, stuttering is characterized by speech sounds, words or s

183 Although stuttering is highly heritable and enriched within famil

184 Though stuttering is manifest in its motor characteristics, the

185 The cause of stuttering is unknown.

186 plex interplay between a novel iterative or "stuttering" KS-AT didomain (MmpF), the multidomain modul

187 known to disrupt fluency by causing slow and stutter-like speech in humans.

188 This stuttering-like behavior started at one month, and impro

189 oning, or relief of myocardial ischemia in a stuttered manner, has been shown to reduce infarct size,

190 ude that lesions causing acquired neurogenic stuttering map to a common brain network, centred to the

191 ing to test whether lesions causing acquired stuttering map to a common brain network.

192 t in its motor characteristics, the cause of stuttering may not relate purely to impairments in the m

193 These results support a stuttering mechanism for the polyadenylation of influenz

194 ediated pore closure occurred via a complex 'stuttering' mechanism.

195 tates from a processive elongation mode to a stuttering mode for polyadenylation to one in which no t

196 distance distribution, as well as a sequence stutter model, in a probabilistic framework to infer rep

197 eport serves as the first interrogation of a stuttering module from a trans-AT subfamily PKS that is

198 ents in vitro and in E. coli, the "split-and-stuttering" module was shown to catalyze up to five elon

199 vocalizations of pups with the human Gnptab stuttering mutation compared to littermate controls.

200 vocalization defects in mice carrying human stuttering mutations in Gnptab derive from abnormalities

201 Here we show that other human stuttering mutations introduced into this mouse gene, Gn

202 ith two age and sex matched controls without stuttering (n = 14).

203 d (iii) adults with persistent developmental stuttering (n = 20, 14 males/six females, 18-43 years).

204 PFWE < 0.05), resulting in a common acquired stuttering network across both stroke datasets.

205 Within the common acquired stuttering network, we found a significant association b

206 ature dataset, we found that lesions causing stuttering occurred in multiple heterogeneous brain regi

207 Stuttering occurs in early childhood during a dynamic ph

208 asses exhibited regular firing and irregular stuttering of action potential clusters, tufted cells de

209 and of the narrower diagnosis of persistent stuttering on chromosome 15 (LOD = 1.95 at 23 cM).

210 ed" (including both persistent and recovered stuttering) on chromosome 9 (LOD = 2.3 at 60 cM) and of

211 The existing methods for microsatellite stutter pattern deconvolution required large amount of d

212 we develop a novel method for microsatellite stutter pattern deconvolution.

213 , the relative intensity of each band in the stutter pattern is approximately the same for each allel

214 d quantitatively to predict the shape of the stutter pattern, a prediction borne out by experiment.

215 nted that is used to analyze the overlapping stutter patterns and determine the relative concentratio

216 Due to microsatellite mutations during PCR, stutter patterns may appear in the final PCR product, wh

217 t successfully predicts the general shape of stutter patterns.

218 These "stutter" patterns may overlap in heterozygous alleles an

219 and "dropin" of alleles, and highly variable stutter peak heights.

220 d protein kinase C signaling, which controls stuttering persistent Ca2+ influx, vascular tone, and bl

221 These stuttering persistent Ca2+ sparklets arise from the mole

222 e Ca2+ channels in arterial myocytes produce stuttering persistent Ca2+ sparklets that increase Ca2+

223 ady states (non-adapting spiking, persistent stuttering, persistent slow-wave bursting, and silence).

224 eural systems of normal speech from those of stuttering, PET images of brain blood flow were probed (

225 This finding was shown to be specific for stuttering (PFWE < 0.05) and reproducible in our indepen

226 nical cohort of patients with stroke-induced stuttering (PFWE < 0.05), resulting in a common acquired

227 oci on chromosomes 1 and 4 that map with the stuttering phenotype.

228 utations in the NAGPA gene in the persistent stuttering phenotype.

229 The mechanisms underlying stuttering priapism are complex, and involve dysregulati

230 ), non-ischaemic (high-flow or arterial) and stuttering priapism.

231 n on the island of Hawaii and early on had a stuttering problem.

232 results also suggest that the proportion of stutter product relative to the main allele increases as

233 ontaining a typical verses low proportion of stutter product.

234 del as a potential explanation for how these stutter products are generated.

235 (PCR), insertion-deletion mutations produce stutter products differing from the original template by

236 The threshold for detecting 'stutter' products was computed to be four repeats for (C

237 Brain correlates of stutter rate and syllable rate showed striking differenc

238 Stutter-rate correlates, both positive and negative, wer

239 incipal difference between syllable-rate and stutter-rate positive correlates was hemispheric lateral

240 heterozygous peak balances at all loci >68%; stutter ratios ranged from 3.8% to 16.15%; full profiles

241 Stuttered reading lacked left-lateralized activations of

242 post-conditioned with 3 or 6 10-s cycles of stuttered reflow.

243 However, the cellular mechanisms leading to stuttering remain unknown.

244 The aetiology of stuttering remains unclear; compared to other neurodevel

245 bus pallidus was associated with more severe stuttering (rho = 0.86, P = 0.01).

246 ared and distinct genetic variants impacting stuttering risk within sex and ancestry groups.

247 levance of our population-based analysis for stuttering risk.

248 Additional voxel-based findings in the stuttering sample included higher NAA:Cr and Cho:Cr rati

249 also observed between local metabolites and stuttering severity (r = 0.40-0.52; P = .001-.02).

250 f stuttering, which were diagnosed using the Stuttering Severity Instrument.

251 ciated with stuttering status, age, sex, and stuttering severity.

252 The stutter shape is most easily determined from homozygous

253 fluency or auditory feedback, the people who stuttered showed overactivity relative to controls in th

254 ess dynamic brain function in adults who had stuttered since childhood, regional cerebral blood flow

255 asks suggested that during the production of stuttered speech, anterior forebrain regions-which play

256 s appears to be related to the production of stuttered speech, while activation of right hemispheric

257 ize advances in the genetic investigation of stuttering, speech-sound disorder (SSD), specific langua

258 uttering as predicting features and imputing stuttering status as the outcome variable.

259 examine white matter changes associated with stuttering status, age, sex, and stuttering severity.

260 gular-spiking (IR), initially bursting (IB), stuttering (Stu), single-spiking (SS), fast-adapting (FA

261 rCBF patterns in stuttering subjects differed markedly during the formula

262 or function-are disproportionately active in stuttering subjects, while post-rolandic regions-which p

263 The timing of the recovery and stuttering suggest that immature recovering activity of

264 twork with symptom severity in developmental stuttering suggests a shared neuroanatomy across aetiolo

265 ory processes associated with attenuation of stuttering symptoms.

266 inct and opposing roles in the generation of stuttering symptoms: activation of left hemispheric regi

267 has altered the switch between nonproductive stuttering synthesis and productive initiation during pr

268 Because RpoB3449 demonstrates "wild-type" stuttering synthesis at the mutant galP2 promoter, which

269 etermines other parameters that might affect stuttering synthesis by analyzing a mutant RNAP, RpoB344

270 RpoB3449 has dramatically diminished stuttering synthesis, and consequently, it has increased

271 the galP2 transcript leading to its reduced stuttering synthesis, indicating that the rate of an RNA

272 rase (RNAP) is known to engage nonproductive stuttering synthesis, which is sensitive to the concentr

273 d cells demonstrated a greater propensity to stutter than mitral cells.

274 gs included lower group mean NAA:Cr ratio in stuttering than nonstuttering participants in the right

275 er measures in adults and older children who stutter that were found primarily in major left hemisphe

276 e-wide association analyses of self-reported stuttering that were stratified by sex and ancestry, as

277 between output helices through heptad repeat stutters that produce packing phase clashes.

278 s such as an excessive polymerase slippage ("stutter") that causes difficulties in automated genotypi

279 further characterize the neurophysiology of stuttering through in vivo assay of neurometabolites in

280 ance, focusing on movement disorders such as stuttering, tics and freezing of gait.

281 various neurological disorders ranging from stuttering to aphasia; however, the underlying neural me

282 ge studies mapped a susceptibility locus for stuttering to chromosome 12 in 46 highly inbred families

283 Prior ascription of a role in stuttering to inferior frontal and superior temporal gyr

284 end infections in novel hosts, sometimes, in stuttering transmission chains that die out, and rarely,

285 e text] and infections occur as self-limited stuttering transmission chains.

286 rmittently pausing or "stuttering" TW (i.e., stuttering trap; ST region).

287 second having an intermittently pausing or "stuttering" TW (i.e., stuttering trap; ST region).

288 ic firing responses are greatly increased in stuttering type neurons under blocking their Kv1 channel

289 nvestigated the neuroanatomical substrate of stuttering using three independent datasets: (i) case re

290 e four-generation family in which persistent stuttering was inherited in an autosomal dominant manner

291 Stutters were negatively correlated with right-cerebral

292 presence of noise and PCR artifacts such as stutter which can mask or mimic biological alleles.

293 Stuttering, which disrupts the smooth flow of speech, af

294 Each family contained multiple cases of stuttering, which were diagnosed using the Stuttering Se

295 n alterations that are most likely linked to stuttering, while spontaneous recovery appears related t

296 We analyzed speech from people who stutter with mutations in this pathway and compared it t

297 We further show genetic similarity of stuttering with autism, depression and impaired musical

298 By contrasting stuttering with fluent speech using positron emission to

299 To identify individuals affected by stuttering within our EHR, we built a PheCode-driven Gin