ライフサイエンスコーパス: ataxia

1 with parietal damage, such as constructional ataxia.

2 ment, viral infection, cell-cell fusion, and ataxia.

3 tary spastic paraplegia (HSP) and cerebellar ataxia.

4 f Purkinje cell loss resulting in tremor and ataxia.

5 f the neurodegenerative disease Friedreich's ataxia.

6 development of therapeutics for Friedreich's ataxia.

7 ataxia and between CMT2 + HSP and hereditary ataxia.

8 on in RFC1 is a frequent cause of late-onset ataxia.

9 nduces cerebellar morphological deficits and ataxia.

10 d TG6 in gluten axonal neuropathy and gluten ataxia.

11 als had microcephaly, psychomotor delay, and ataxia.

12 ioural deficits associated with Friedreich's ataxia.

13 thy causing cerebellar vermis hypoplasia and ataxia.

14 learning and altered mGluR1 signaling causes ataxia.

15 e variations in WT AXTN1 levels also lead to ataxia.

16 t intron of the FXN gene causes Friedreich's ataxia.

17 ssed in type II UBCs, is sufficient to cause ataxia.

18 he most common autosomal dominant cerebellar ataxia.

19 istory studies and treatment trials in COQ8A-ataxia.

20 we have argued that this may account for the ataxia.

21 44%) included choreoathetosis, dystonia, and ataxia.

22 ome (CANVAS) and a major cause of late onset ataxia.

23 gene that is strongly associated with human ataxias.

24 ng motor symptoms of degenerative cerebellar ataxias.

25 of the most common childhood-onset recessive ataxias.

26 ly contribute to cerebellar vulnerability in ataxias.

27 ike Huntington's disease and spinocerebellar ataxias.

28 factors for yet to be discovered progressive ataxias.

29 Disease, Fragile X Syndrome, and hereditary ataxias.

30 ation, and their role in the pathogenesis of ataxias.

31 ic interventions for immune and some genetic ataxias.

32 he Kv3.3 K(+) channel, cause spinocerebellar ataxia 13 (SCA13).

33 Spinocerebellar ataxias 17 (SCA17) is caused by polyglutamine (polyQ) ex

34 one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental

35 commonest genetic ataxias were Friedreich's ataxia (22%), SCA6 (14%), EA2 (13%), SPG7 (10%) and mito

36 complex, a causative link to spinocerebellar ataxia 27 (SCA27) and an emerging risk factor for neurop

37 expanded to the upper limbs, (2) cerebellar ataxia, (3) psychosis and/or severe mood disorder (only

38 xicity of RAN translation in spinocerebellar ataxia 31.

39 of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural erythrocyte membra

40 Ataxia (45%) and diplopia (26%) were common manifestatio

41 language (9/9), cognitive impairment (8/9), ataxia (6/9), dysarthria in probands with verbal ability

42 pression in a cellular model of Friedreich's ataxia, a neurodegenerative disease caused by partial si

43 ial frataxin in the etiology of Friedreich's ataxia, also have important implications for studies of

44 nd locomotion in mouse models for cerebellar ataxia, Alzheimer's disease, and spinal cord injury, res

45 plicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expan

46 loss-of-function BK channel mutation causes ataxia and acts by reducing mitochondrial and subsequent

47 ping relationship between HSP and hereditary ataxia and between CMT2 + HSP and hereditary ataxia.

48 and is deregulated in human spinocerebellar ataxia and cancers.

49 ve in their 30s and 40s and show predominant ataxia and cerebellar atrophy features on imaging.

50 e-deficient mice reverses their pre-existing ataxia and diminishes cerebellar and thalamic vacuolatio

51 icits, including childhood absence epilepsy, ataxia and dystonia.

52 d2), the deletion of which causes cerebellar ataxia and epilepsy in mice and humans.

53 including stiff-person syndrome, cerebellar ataxia and epilepsy.

54 , nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.

55 and should be routinely included in genetic ataxia and neuropathy gene panels.

56 ker syndrome, typically presenting with gait ataxia and painful dysaesthesiae in the legs evolving ov

57 both shared and specific signatures of gait ataxia and provide a quantitative foundation for mapping

58 t chronic neurological impairment, including ataxia and psychomotor retardation.

59 vodopa-unresponsive parkinsonism, cerebellar ataxia and pyramidal symptoms.

60 ear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system a

61 derlies many neurological diseases including ataxia and the most common pediatric brain tumor, medull

62 of cognitive impairment, movement disorders, ataxia and upper motor neuron signs.

63 tient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI.

64 set movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms.

65 in preclinical studies for the polyglutamine ataxias and the initial clinical application in myotonic

66 ereditary spastic paraplegias and cerebellar ataxias and thus prioritize this pathway for therapeutic

67 Only one third had predominant ataxia, and 18% had a pure extrapyramidal presentation.

68 stability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exo

69 r from extrapyramidal movements, spasticity, ataxia, and cognitive deficits.

70 history of seminoma presented with vertigo, ataxia, and diplopia.

71 et delay in overall development, progressive ataxia, and elevated levels of glutamine.

72 n associated with impaired learning, autism, ataxia, and schizophrenia.

73 ed with Alzheimer's disease, spinocerebellar ataxia, and systemic lupus erythematosus.

74 In addition, ataxia, angiogenesis, and tumor-stroma interaction assay

75 plegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjogren-like syndrome.

76 Ataxias are a class of neurodegenerative diseases charac

77 e measures for clinical trials on cerebellar ataxias are lacking.

78 The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensori

79 Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly

80 of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuropathy spectrum; autosomal recessive

81 ions in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans a

82 entify the cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-associated prote

83 evelopmental delay, intellectual disability, ataxia, axial hypotonia, cerebral atrophy and speech del

84 s an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (APTX).

85 Ataxia, causing imbalance, dizziness and falls, is a lea

86 tellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms.

87 mutants show progressive decline with severe ataxia consistent with defects in cerebellar development

88 utosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorde

89 ator, partially improved motor function, but ataxia continued to progress.

90 Here, we tested whether assays for ataxia could measure this observed strain-dependency, an

91 abnormalities in cerebellar disorders (i.e., ataxias) could be captured from iPhone video.

92 nces, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n

93 Degenerative cerebellar ataxias (DCAs) affect up to 1 in 5,000 people worldwide,

94 porphobilinogen (PBG), profound early-onset ataxia, delayed motor development and markedly impaired

95 ception and small-diameter axons, but severe ataxia due to preferential degeneration of large-diamete

96 ymptoms including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalit

97 by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy.

98 However, for cerebellar ataxia, epilepsy and other syndromes with different aeti

99 lay, mild-to-severe intellectual disability, ataxia, epilepsy, and behavioral disorders that cannot c

100 function in SCA7, indicating that cerebellar ataxias exhibit altered calcium homeostasis because of m

101 s and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcificatio

102 Friedreich ataxia (FA) is a progressive genetic neurodegenerative d

103 ed frataxin (FXN) expression in Friedreich's ataxia (FRDA) are linked to epigenetic modification of t

104 The common clinical symptoms of Friedreich's ataxia (FRDA) include ataxia, muscle weakness, type 2 di

105 Friedreich's ataxia (FRDA) is a devastating, multisystemic disorder c

106 Friedreich's ataxia (FRDA) is a human hereditary disease caused by th

107 Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by

108 Friedreich's ataxia (FRDA) is a progressive disease affecting multipl

109 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerativ

110 Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerativ

111 xin deficiency, responsible for Friedreich's ataxia (FRDA), is crucial for cell survival since it cri

112 tion neurodegenerative disorder Friedreich's ataxia (FRDA).

113 rable neurodegenerative disease Friedreich's ataxia (FRDA).

114 degenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2

115 ively separate dysmetria, a cardinal sign of ataxia, from tremor in essential tremor (ET).

116 (CD), dermatitis herpetiformis (DH), gluten ataxia (GA), wheat allergy (WA), and non-celiac gluten s

117 ith many debilitating human diseases such as ataxia, Gillespie syndrome, and generalized anhidrosis.

118 n transfer from PCs and likely contribute to ataxia in Cacna2d2 KO mice.

119 The possible cellular mechanism underpinning ataxia in this global Asic5 knockout model was elaborate

120 ar findings were seen in the spinocerebellar ataxias, indicating an association between DNA damage-re

121 Late-onset ataxia is common, often idiopathic, and can result from

122 Making a diagnosis of the cause of ataxia is essential due to potential therapeutic interve

123 f ion channel genes implicated in hereditary ataxia, it remains unclear how ion channel mutations lea

124 mammalian TBI, including severity-dependent ataxia, life span reduction, and brain degeneration.

125 he feedback gain in patients with cerebellar ataxia matches that of healthy subjects, but that patien

126 causing the neurological disorder cerebellar ataxia, mental retardation, and disequilibrium (CAMRQ) s

127 causes the neurological disorder cerebellar ataxia, mental retardation, and disequilibrium (CAMRQ) s

128 In addition to cerebellar ataxia, motor neuron disease is often seen in SCA2, and

129 mptoms of Friedreich's ataxia (FRDA) include ataxia, muscle weakness, type 2 diabetes and heart failu

130 In case of inherited forms of ataxia, mutant proteins are expressed throughout the bra

131 ype-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures.

132 he face were collected from individuals with ataxia (n = 102) and from a comparative population (Park

133 myoclonic epilepsy myopathy sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progress

134 Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CA

135 ith variable nonsyndromic features including ataxia, neuropathy, and learning disability.

136 in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVA

137 subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVA

138 acterized by chronic neuropathy with sensory ataxia, ocular, and/or bulbar motor weakness in the pres

139 nset seizures (MCSZ) to neurodegeneration in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Too

140 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by muta

141 , with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45.

142 protein, causes autosomal recessive spastic ataxia of the Charlevoix-Saguenay, one of the most commo

143 In addition to ataxia, one patient also showed cerebellar atrophy.

144 NA12878 and the genome of an individual with ataxia-pancytopenia syndrome and severe immune dysregula

145 n clinical features were sensitive symptoms (ataxia, paresthesia, hypoesthesia; n = 45, 100%), motor

146 al CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilater

147 effects of oxidative stress on Friedreich's ataxia patients and, more in general, on other neurodege

148 even individuals with an early-onset spastic-ataxia phenotype.

149 ion, the paraneoplastic opsoclonus-myoclonus ataxia (POMA).

150 COQ8A-ataxia presented as variable multisystemic, early-onset

151 ressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive behavior, as w

152 15 years using the International Cooperative Ataxia Rating Scale (ICARS).

153 improvement in the International Cooperative Ataxia Rating Scale (ICARS).

154 severity using the International Cooperative Ataxia Rating Scale (ICARS).

155 firmed FA and baseline modified Friedreich's Ataxia Rating Scale (mFARS) scores between 20 and 80, we

156 s caused by the genetic disease Friedreich's ataxia results in decreased mitochondrial function, neur

157 ed with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa.

158 ly indicated mild-to-moderate progression of ataxia (SARA: 0.45/year).

159 pid scramblase causative for spinocerebellar ataxia (SCAR10), is an interorganelle regulator of the e

160 ident protein associated with the cerebellar ataxia SCAR20, localizes to ER-LD contacts following FA

161 The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of

162 ffected in neurodegenerative spinocerebellar ataxias (SCAs).

163 motor dysfunction with tremor, dystonia and ataxia seen in H-ABC.

164 evelopmental delay, intellectual disability, ataxia, seizures and a happy affect.

165 ann-Pick disease type C (a neurodegenerative ataxia), slowing down neurodegeneration and increasing l

166 oprioception; this loss leads to severe gait ataxia, spinal deformities, and respiratory insufficienc

167 Here, we identify the cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (S

168 ers such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiect

169 ients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with

170 Fragile X associated tremor/ataxia syndrome (FXTAS) is a late adult-onset neurodegen

171 Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder

172 Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerat

173 eases, including fragile X-associated tremor ataxia syndrome (FXTAS), ALS, and frontotemporal dementi

174 t small-molecule screen for fragile X tremor ataxia syndrome.

175 odegeneration in fragile X-associated tremor/ataxia syndrome.

176 Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome

177 ed by the ataxia telangiectasia mutated- and ataxia telangiectasia and rad3 related-based DNA damage

178 cluding ataxia telangiectasia mutated (ATM), ataxia telangiectasia and Rad3-related (ATR), and the DN

179 inhibitors of ataxia telangiectasia mutated, ataxia telangiectasia and Rad3-related (ATR), DNA-depend

180 mide, unlike other alkylators, activated the ataxia telangiectasia and Rad3-related (ATR)-checkpoint

181 esponse to aberrant R loop accumulation, the ataxia telangiectasia and Rad3-related (ATR)-Chk1 pathwa

182 KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related protein (ATR), an

183 response to perturbed DNA replication, ATR (ataxia telangiectasia and Rad3-related) kinase is activa

184 , PCAF activity is tightly regulated by ATR (ataxia telangiectasia and Rad3-related), which phosphory

185 demonstrates that loss of ataxia telangiectasia mutated (ATM) activates microglia

186 illomaviruses (HPVs) constitutively activate ataxia telangiectasia mutated (ATM) and ataxia telangiec

187 ted by the PIP3-kinase-like kinases (PI3KKs) ataxia telangiectasia mutated (ATM) and ataxia telangiec

188 ted under hypoxia through phosphorylation by ataxia telangiectasia mutated (ATM) and ataxia telangiec

189 Two related kinases, ataxia telangiectasia mutated (ATM) and ATM and Rad3-rel

190 pharmacologic blockade or siRNA silencing of ataxia telangiectasia mutated (ATM) increases type I IFN

191 sing Hi-C experiments on wild type cells and ataxia telangiectasia mutated (ATM) patient cells.

192 The Ser/Thr protein kinase ataxia telangiectasia mutated (ATM) plays an important r

193 toxin-treated cells, largely mediated by the ATAXIA TELANGIECTASIA MUTATED (ATM) protein kinase, repr

194 se and highly specific nuclear expression of Ataxia Telangiectasia Mutated (ATM) protein within melan

195 SMURF2 becomes phosphorylated at Ser(384) by ataxia telangiectasia mutated (ATM) serine/threonine kin

196 ol 3-kinase-related kinase family, including ataxia telangiectasia mutated (ATM), ataxia telangiectas

197 d DNA damage response marker, phosphorylated ataxia telangiectasia mutated (pATM), were quantified in

198 Ataxia telangiectasia mutated and RAD3 related (ATR) pro

199 lly, LRRC31 interacts with Ku70/Ku80 and the ataxia telangiectasia mutated and RAD3-related (ATR) at

200 n by ataxia telangiectasia mutated (ATM) and ataxia telangiectasia mutated and RAD3-related (ATR) at

201 by combining the MSLN-TTC with inhibitors of ataxia telangiectasia mutated, ataxia telangiectasia and

202 duced DNA double-strand breaks by activating Ataxia Telangiectasia Mutated, phosphorylating histone H

203 Conversely, KU-55933, a drug that inhibits ataxia telangiectasia mutated, thereby preventing p53 ph

204 aptation to the G(2) arrest triggered by the ataxia telangiectasia mutated- and ataxia telangiectasia

205 ubiquitination and degradation controlled by ataxia telangiectasia mutated-induced phosphorylation at

206 (hereditary nonpolyposis colorectal cancer), ataxia telangiectasia, and Li-Fraumeni syndrome, all of

207 reich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal

208 vate ataxia telangiectasia mutated (ATM) and ataxia telangiectasia- and Rad3-related (ATR) DNA damage

209 A damage response Ser/Thr kinases, including ataxia telangiectasia-mutated (ATM) and Rad3-related (AT

210 cal evidence indicates that the reduction of ataxia telangiectasia-mutated (ATM) kinase activity can

211 caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity.

212 d aberrant activation of DNA damage-response ataxia telangiectasia-mutated (ATM) signaling in HD tran

213 , Tel1 protein kinase, the ortholog of human ataxia telangiectasia-mutated (ATM), is activated in res

214 tion-defective primary immunodeficiencies or ataxia telangiectasia/Nijmegen breakage syndromes.

215 People with ataxia-telangiectasia (A-T) display phenotypic variabili

216 Ataxia-telangiectasia (A-T) is an autosomal recessive di

217 entionally, the immune deficiencies found in ataxia-telangiectasia (A-T) patients are viewed as defec

218 the ATM gene result in a condition known as ataxia-telangiectasia (A-T) that is characterized by can

219 tablished cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype cor

220 bitors; inhibitors of the DNA damage kinases ataxia-telangiectasia and Rad3 related (ATR), CHK1, WEE1

221 Targeting ataxia-telangiectasia and Rad3-related/cell-cycle checkp

222 Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activ

223 Ataxia-telangiectasia group D complementing gene (ATDC,

224 Here we show that deletion of the ataxia-telangiectasia group D-complementing (Atdc) gene,

225 Variant ataxia-telangiectasia is caused by mutations that allow

226 DNA damage response pathways mediated by the ataxia-telangiectasia mutated (ATM) and ataxia-telangiec

227 ng molecules that regulate autophagy through ataxia-telangiectasia mutated (ATM) and cell cycle check

228 Using this technology, we identify that ataxia-telangiectasia mutated (ATM) and RNF8 regulate ra

229 The ataxia-telangiectasia mutated (ATM) gene regulates DNA d

230 Inactivation of Ataxia-telangiectasia mutated (ATM) gene results in an i

231 Phosphorylation of ataxia-telangiectasia mutated (ATM) is the initial step

232 The ataxia-telangiectasia mutated (ATM) kinase, an upstream

233 The ataxia-telangiectasia mutated (ATM) protein kinase is wi

234 In silico analysis suggested that ataxia-telangiectasia mutated (ATM) protein, a protein k

235 Activation of ataxia-telangiectasia mutated (ATM), a kinase activated

236 diation sensitive, had reduced expression of ataxia-telangiectasia mutated (ATM), and exhibited multi

237 n of the DNA damage response factors phospho-ataxia-telangiectasia mutated (ATM), phospho-53BP1, gamm

238 ithelial-mesenchymal transitions (EMT) in an Ataxia-telangiectasia mutated (ATM)-dependent manner.

239 These telomere defects activated ataxia-telangiectasia mutated (ATM)-mediated DNA damage

240 asia and Rad3 related (ATR), CHK1, WEE1, and ataxia-telangiectasia mutated (ATM); and inhibitors of c

241 ATR (ataxia-telangiectasia mutated [ATM] and RAD3-related) is

242 the ataxia-telangiectasia mutated (ATM) and ataxia-telangiectasia mutated and Rad3-related (ATR) kin

243 We found that silencing of ataxia-telangiectasia mutated and RAD3-related (ATR), a

244 Lenti-Cre deleted one or two copies of ataxia-telangiectasia mutated gene (Atm; KPA(FL/+) or KP

245 The absence of Ataxia-Telangiectasia mutated protein kinase (ATM) is as

246 Loss of ATM (ataxia-telangiectasia mutated) activity leads to a slowi

247 ATM (ataxia-telangiectasia mutated) is a PI3K-like kinase bes

248 ng molecules (ataxia-telangiectasia mutated; ataxia-telangiectasia mutated-related and Rad3-related;

249 sensors (MLH1), damage signaling molecules (ataxia-telangiectasia mutated; ataxia-telangiectasia mut

250 Individuals with variant ataxia-telangiectasia require malignancy surveillance an

251 erlie other neurodegenerative disorders (eg, ataxia-telangiectasia), and DNA double-strand breaks are

252 Ataxia-telangiectasia-like disorder (ATLD) fibroblasts w

253 We have recently shown that ataxia-telangiectasia-mutated (ATM) deficiency in CD4 T

254 tion can be enhanced by therapeutics such as ataxia-telangiesctasia-mutated (ATM) inhibitors.

255 exhibit temporal invariance and more severe ataxia than other SCA6 individuals.SIGNIFICANCE STATEMEN

256 Clinical features included progressive ataxia, tremor, cognitive decline, dysphagia, optic atro

257 his mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1 polyglutamine pr

258 Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative diseas

259 cause the movement disorder spinocerebellar ataxia type 1 (SCA1) through a toxic gain-of-function me

260 tide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease that i

261 to abnormally low levels in spinocerebellar ataxia type 1 (SCA1), and that replenishing VEGF reverse

262 sing the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis that re

263 t repeat expansion disorder, spinocerebellar ataxia type 1 (SCA1).

264 rives disease progression in spinocerebellar ataxia type 1 (SCA1).

265 he neurodegenerative disease spinocerebellar ataxia type 1 (SCA1).

266 disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR10), its location in cells, function

267 neurodegenerative disorder, spinocerebellar ataxia type 11 (SCA11).

268 K2) is genetically linked to spinocerebellar ataxia type 11, and its kinase activity is crucial for c

269 The spinocerebellar ataxia type 2 (SCA2) gene ATXN2 has a prominent role in

270 apies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamin

271 l ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia

272 f ATXN3 for 20 patients with spinocerebellar ataxia type 3 (SCA3) and 5 unaffected individuals, and c

273 Spinocerebellar ataxia type 3 (SCA3) belongs to the family of polyglutam

274 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodege

275 causes neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inherited, incurable d

276 untington's disease (HD) and spinocerebellar ataxia type 3 (SCA3), respectively.

277 Machado-Joseph disease or spinocerebellar ataxia type 3 is an inherited neurodegenerative disease

278 In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the exp

279 onic GGCCTG HREs that causes spinocerebellar ataxia type 36 (SCA36) is also translated into DPRs, inc

280 D mutation (L253P) linked to spinocerebellar ataxia type 5 (SCA5) causes a dramatic increase in actin

281 A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding

282 In spinocerebellar ataxia type 6 (SCA6), there is evidence that individuals

283 e show that in a subgroup of spinocerebellar ataxia type 6 individuals, temporal variability is lower

284 Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG-polyglutamine r

285 the amino terminus, causing spinocerebellar ataxia type 7 (SCA7), a progressive retinal and neurodeg

286 associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ata

287 blem in neurology, distinguishing tremor and ataxia using quantitative methods.

288 Ataxia was the most prominent motor feature.

289 ) by the neurological findings of myoclonus, ataxia, weakness, and autonomic instability.

290 icas, was characterised by fever, myoclonus, ataxia, weakness, autonomic instability, and full recove

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

292 thing 11% O(2) attenuates the progression of ataxia, whereas breathing 55% O(2) hastens it.

293 m traits, inattention and hyperactivity, and ataxia, who carries a de novo frameshift mutation in KCN

294 enes encoding EIF2B proteins cause childhood ataxia with central nervous system hypomyelination/vanis

295 d with congenital and progressive cerebellar ataxia with cognitive impairment.

296 lies with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexi

297 Cerebellar ataxia with neuropathy and bilateral vestibular areflexi

298 Ataxia with oculomotor apraxia type 1 (AOA1) is an early

299 riable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy

300 delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutatio