ライフサイエンスコーパス: spinocerebellar ataxia

1 ble neurological disorder autosomal dominant spinocerebellar ataxia.

2 tDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.

3 ed deubiquitinating enzyme mutated in type-3 spinocerebellar ataxia.

4 at expansions in seven different genes cause spinocerebellar ataxias.

5 atorubral-pallidoluysian atrophy and several spinocerebellar ataxias.

6 as Huntington disease, Kennedy disease, and spinocerebellar ataxias.

7 human diseases like Huntington's disease and spinocerebellar ataxias.

8 MNAT overexpression can also protect against spinocerebellar ataxia 1 (SCA1)-induced neurodegeneratio

9 lutamine (polyQ) disease in a mouse model of spinocerebellar ataxia 1 (SCA1).

10 All cases had been tested for spinocerebellar ataxia 1-3, 6, 7 and Friedrich's ataxia

11 divergent neuroprotective capacities against spinocerebellar ataxia 1-induced neurodegeneration.

12 Spinocerebellar ataxia 10 (SCA10) is an autosomal domina

13 The neurodegenerative disorder spinocerebellar ataxia 12 (SCA12) is caused by CAG repea

14 which encodes the Kv3.3 K(+) channel, cause spinocerebellar ataxia 13 (SCA13).

15 s gene have been linked to the human disease spinocerebellar ataxia 13, associated with cerebellar an

16 have recently been linked to human disease, spinocerebellar ataxia 13, with cerebellar and extracere

17 Spinocerebellar ataxia 17 (SCA17) is an autosomal-domina

18 We established spinocerebellar ataxia 17 (SCA17) knockin mice that indu

19 ly implicated HSP27 as a genetic modifier of spinocerebellar ataxia 17 (SCA17), a neurological diseas

20 n (TBP) causes the neurodegenerative disease spinocerebellar ataxia 17 (SCA17).

21 To investigate the pathogenesis of spinocerebellar ataxia 17, we generated a conditional kn

22 Spinocerebellar ataxias 17 (SCA17) is caused by polyglut

23 Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative d

24 ons are associated with a different disease, spinocerebellar ataxia 2, these findings help explain ho

25 Nav1.6 channel complex, a causative link to spinocerebellar ataxia 27 (SCA27) and an emerging risk f

26 Spinocerebellar ataxia 3 (SCA3) is the most common autos

27 Josephin domain of ataxin-3 is implicated in spinocerebellar ataxia-3.

28 ) explore the toxicity of RAN translation in spinocerebellar ataxia 31.

29 predicted loss of TG6 crosslinking leads to spinocerebellar ataxia-35; and loss of the structural er

30 Spinocerebellar ataxia 38 (SCA38) is caused by mutations

31 ker linked to the neurodegenerative disorder spinocerebellar ataxia 5.

32 Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neur

33 ternative to allele-specific silencing using spinocerebellar ataxia 7 (SCA7) as a model.

34 esponsible for the neurodegenerative disease spinocerebellar ataxia 7 (SCA7).

35 vant to understanding diseases (for example, spinocerebellar ataxia, amyotrophic lateral sclerosis an

36 human neurodegenerative diseases, including spinocerebellar ataxia, amyotrophic lateral sclerosis, a

37 s in development and is deregulated in human spinocerebellar ataxia and cancers.

38 es, including amyotrophic lateral sclerosis, spinocerebellar ataxia and Huntington's disease, is that

39 MARCKS, and the established role of PKCs in spinocerebellar ataxia and in shaping the actin cytoskel

40 Its human ortholog is linked to type 2 spinocerebellar ataxia and other complex neuronal disord

41 to the pathogenesis of dominantly inherited spinocerebellar ataxias and the current therapeutic stra

42 herited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the m

43 eurological diseases, including Alzheimer's, spinocerebellar ataxia, and several motor neuron disease

44 a critical role for opioid neuropeptides in spinocerebellar ataxia, and suggests that restoring the

45 es, are associated with Alzheimer's disease, spinocerebellar ataxia, and systemic lupus erythematosus

46 n amyotrophic lateral sclerosis; ataxin-2 in spinocerebellar ataxia; and SMN (survival of motor neuro

47 XRCC1 with proteins causally linked to human spinocerebellar ataxias-aprataxin and tyrosyl-DNA phosph

48 The spinocerebellar ataxias are a genetically heterogeneous

49 Spinocerebellar ataxias are dominantly inherited neurode

50 analysis of the canine orthologues of human spinocerebellar ataxia associated genes, we identified a

51 Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20)

52 Here, we identify the cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-

53 e data on the progression of the most common spinocerebellar ataxias based on a follow-up period that

54 type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by mutation in aprataxin (

55 the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neur

56 nit FGF14 'b' isoform, a locus for inherited spinocerebellar ataxias, controls resurgent current and

57 uding HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian at

58 sorders, including Alpers syndrome, juvenile spinocerebellar ataxia-epilepsy syndrome, and progressiv

59 he Inventory of Non-Ataxia Signs (INAS), the Spinocerebellar Ataxia Functional Index (SCAFI), phonemi

60 AS), the performance-based coordination test Spinocerebellar Ataxia Functional Index (SCAFI), the neu

61 approaches for Huntington's disease and the spinocerebellar ataxias, including the use of antisense

62 Similar findings were seen in the spinocerebellar ataxias, indicating an association betwe

63 r a physiological mechanism underlying human spinocerebellar ataxia induced by Fhf4 mutation and sugg

64 Since spinocerebellar ataxia is associated with mutations in h

65 with affected dogs presenting with symmetric spinocerebellar ataxia particularly evident in the pelvi

66 are clinically indistinguishable from other spinocerebellar ataxia patients.

67 nd Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls.

68 l identity to the 5' and 3'UTRs of the polyQ spinocerebellar ataxia (SCA) genes ATXN1, ATXN2, ATXN3,

69 Spinocerebellar ataxia (SCA) in the Parson Russell Terri

70 Spinocerebellar ataxia (SCA), previously known as autoso

71 y and characterize the different subtypes of spinocerebellar ataxia (SCA).

72 -term disease progression of the most common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6.

73 owth factor 14 (iFGF14), have been linked to spinocerebellar ataxia (SCA27).

74 mic reticulum lipid scramblase causative for spinocerebellar ataxia (SCAR10), is an interorganelle re

75 The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of ne

76 The autosomal dominant spinocerebellar ataxias (SCAs) are a genetically heterog

77 The spinocerebellar ataxias (SCAs) are a genetically heterog

78 Spinocerebellar ataxias (SCAs) are a genetically heterog

79 The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegen

80 Spinocerebellar ataxias (SCAs) are a heterogeneous group

81 The spinocerebellar ataxias (SCAs) are a phenotypically and

82 The autosomal dominant spinocerebellar ataxias (SCAs) are caused by a variety o

83 thological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneratio

84 uding Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest

85 mine diseases such as Huntington disease and spinocerebellar ataxias (SCAs).

86 are primarily affected in neurodegenerative spinocerebellar ataxias (SCAs).

87 ily presenting with cognitive impairment and spinocerebellar ataxia suggest links between FGF14 and n

88 eting mutations in human TTBK2 are linked to spinocerebellar ataxia, suggesting cilia protect from ne

89 Spinocerebellar ataxia syndromes presenting in adulthood

90 In spinocerebellar ataxia, the brain and retina undergo deg

91 recruited through the European Consortium on Spinocerebellar Ataxias, to determine whether age at ons

92 Spinocerebellar Ataxia type 1 (SCA1) and Huntington's di

93 ing example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1

94 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inh

95 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inh

96 Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodeg

97 Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodeg

98 Spinocerebellar ataxia type 1 (SCA1) is a lethal neurode

99 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

100 Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic n

101 The neurodegenerative disease Spinocerebellar ataxia type 1 (SCA1) is a polyglutamine

102 Spinocerebellar ataxia type 1 (SCA1) is an adult-onset,

103 Spinocerebellar ataxia type 1 (SCA1) is an autosomal dom

104 Spinocerebellar ataxia type 1 (SCA1) is an incurable neu

105 Spinocerebellar ataxia type 1 (SCA1) is one of nine domi

106 Spinocerebellar ataxia type 1 (SCA1) is one of nine inhe

107 Spinocerebellar ataxia type 1 (SCA1) is one of nine inhe

108 Spinocerebellar ataxia type 1 (SCA1) is one of several n

109 ional expansion of CAG repeats at the murine spinocerebellar ataxia type 1 (Sca1) locus.

110 Expressing pathogenic spinocerebellar ataxia type 1 (SCA1) or type 3 (SCA3) pr

111 nt studies with a conditional mouse model of spinocerebellar ataxia type 1 (SCA1) suggest that neuron

112 tamine stretches cause the movement disorder spinocerebellar ataxia type 1 (SCA1) through a toxic gai

113 key molecule modulating disease toxicity in spinocerebellar ataxia type 1 (SCA1), a disease caused b

114 ell-based and Drosophila genetic screens, to spinocerebellar ataxia type 1 (SCA1), a disease caused b

115 protein of unknown function associated with spinocerebellar ataxia type 1 (SCA1), a neurodegenerativ

116 of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerativ

117 ), is suppressed to abnormally low levels in spinocerebellar ataxia type 1 (SCA1), and that replenish

118 Using the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hy

119 However, in a mouse model of spinocerebellar ataxia type 1 (SCA1), we identify a prev

120 a mouse model of the polyglutamine disorder spinocerebellar ataxia type 1 (SCA1), we tested the hypo

121 eliminates NER, into the TNR mouse model for spinocerebellar ataxia type 1 (SCA1), which carries an e

122 ogically distinct repeat expansion disorder, spinocerebellar ataxia type 1 (SCA1).

123 he protein responsible for neurodegenerative spinocerebellar ataxia type 1 (SCA1).

124 rm of ataxin-1 drives disease progression in spinocerebellar ataxia type 1 (SCA1).

125 ne involved in the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1).

126 ATXN1 mRNA (rAAV.miS1), to a mouse model of spinocerebellar ataxia type 1 (SCA1; B05 mice).

127 In particular, spinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) pati

128 (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; how

129 Spinocerebellar ataxia type 1 is an autosomal dominant c

130 Spinocerebellar ataxia type 1 is an autosomal dominant f

131 Spinocerebellar ataxia type 1 is caused by expansion of

132 Spinocerebellar ataxia type 1 is one of nine polyglutami

133 Ataxin-1 is a human protein responsible for spinocerebellar ataxia type 1, a hereditary disease asso

134 Except for individuals with spinocerebellar ataxia type 1, age at onset was also inf

135 xpanded ATAXIN-1, the protein that underlies spinocerebellar ataxia type 1, forms toxic oligomers and

136 n the early stages of a mouse model of human spinocerebellar ataxia type 1, SCA1, where mice exhibit

137 ion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 an

138 as been indicated to be the disease gene for spinocerebellar ataxia type 1, which is also a neurodege

139 d are supportive of clinical application for spinocerebellar ataxia type 1.

140 elated progressive neurodegeneration seen in spinocerebellar ataxia type 1.

141 l to decipher the pathogenesis mechanisms in spinocerebellar ataxia type 1.

142 ct in Ataxin-1 causes the autosomal dominant spinocerebellar ataxia type 1.

143 omers are the primary drivers of toxicity in Spinocerebellar ataxia type 1.

144 RNA, expanded r(AUUCU) repeats, that causes spinocerebellar ataxia type 10 (SCA10) in patient-derive

145 Spinocerebellar ataxia type 10 (SCA10) is associated wit

146 he neurological disorder autosomal recessive spinocerebellar ataxia type 10 (SCAR10), its location in

147 in a hereditary neurodegenerative disorder, spinocerebellar ataxia type 11 (SCA11).

148 nt truncating mutations in human TTBK2 cause spinocerebellar ataxia type 11 (SCA11); these mutant pro

149 in kinase-2 (TTBK2) is genetically linked to spinocerebellar ataxia type 11, and its kinase activity

150 tau tubulin kinase 2 (TTBK2) as the cause of spinocerebellar ataxia type 11.

151 Bbeta regulatory subunit gene is mutated in spinocerebellar ataxia type 12, and one of its splice va

152 fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autoso

153 Spinocerebellar ataxia type 13 (SCA13) patients carrying

154 n the Kv3.3 voltage-gated K(+) channel cause spinocerebellar ataxia type 13 (SCA13), a human autosoma

155 Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13).

156 in a unique neurodegenerative disease termed spinocerebellar ataxia type 13 (SCA13).

157 Spinocerebellar ataxia type 13 is a rare autosomal-domin

158 ase mutated in the neurodegenerative disease spinocerebellar ataxia type 14 (SCA14), as a novel amylo

159 Spinocerebellar ataxia type 17 (SCA17) is a rare autosom

160 omain to >42 glutamines typically results in spinocerebellar ataxia type 17 (SCA17), a neurodegenerat

161 region, and expansion of this tract leads to spinocerebellar ataxia type 17 (SCA17), one of nine domi

162 f nine neurodegenerative disorders including spinocerebellar ataxia type 17 that is caused by a polyg

163 The spinocerebellar ataxia type 2 (SCA2) gene ATXN2 has a pr

164 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

165 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

166 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

167 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dom

168 We find in a spinocerebellar ataxia type 2 (SCA2) mouse model that ca

169 In a mouse model of spinocerebellar ataxia type 2 (SCA2), a progressive redu

170 epeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegene

171 NA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal domin

172 However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has be

173 A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sc

174 give rise to the neurodegenerative disorders spinocerebellar ataxia type 2 and Parkinson's disease.

175 A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patien

176 as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, sp

177 , a polyglutamine (polyQ) protein mutated in spinocerebellar ataxia type 2, is a potent modifier of T

178 d; likewise, TDP-43 shows mislocalization in spinocerebellar ataxia type 2.

179 Spinocerebellar ataxia type 20 (SCA20) has been linked t

180 Spinocerebellar ataxia type 23 (SCA23) is caused by miss

181 YN(R212W) mouse is the first animal model of spinocerebellar ataxia type 23 and our work indicates th

182 To further test this and study spinocerebellar ataxia type 23 in more detail, we genera

183 Spinocerebellar ataxia type 23 is caused by mutations in

184 re detail, we generated a mouse carrying the spinocerebellar ataxia type 23 mutation R212W in PDYN.

185 norphin A is likely a mutational hotspot for spinocerebellar ataxia type 23 mutations, and in vitro d

186 reproduced many of the clinical features of spinocerebellar ataxia type 23, with gait deficits start

187 s play a crucial role in the pathogenesis of spinocerebellar ataxia type 23.

188 Spinocerebellar ataxia type 28 (SCA28) is a neurodegener

189 tions in the AFG3L2 gene have been linked to spinocerebellar ataxia type 28 and spastic ataxia-neurop

190 rotease--previously associated with dominant spinocerebellar ataxia type 28 disease--in a patient wit

191 d by other (CAG)n-containing genes: ATXN7 in spinocerebellar ataxia type 2; ATXN2, ATN1 and HTT in sp

192 = 12, age range 21-55 years, seven female), spinocerebellar ataxia type 3 (n = 10, age range 34-67 y

193 he CAG repeats of ATXN3 for 20 patients with spinocerebellar ataxia type 3 (SCA3) and 5 unaffected in

194 ogenic ataxin-3 protein of the human disease spinocerebellar ataxia type 3 (SCA3) and the yeast prion

195 Spinocerebellar ataxia type 3 (SCA3) belongs to the fami

196 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inh

197 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerat

198 difiers of polyQ degeneration induced by the spinocerebellar ataxia type 3 (SCA3) protein ataxin-3, w

199 processing modulated toxicity induced by the spinocerebellar ataxia type 3 (SCA3) protein.

200 Spinocerebellar ataxia type 3 (SCA3), also known as Mach

201 Polyglutamine diseases, including spinocerebellar ataxia type 3 (SCA3), are caused by CAG

202 itinase ataxin-3 causes neurodegeneration in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inheri

203 ataxias, including the polyglutamine disease spinocerebellar ataxia type 3 (SCA3), remains poorly und

204 ouse models of Huntington's disease (HD) and spinocerebellar ataxia type 3 (SCA3), respectively.

205 neration in the most common dominant ataxia, spinocerebellar ataxia type 3 (SCA3).

206 quitin pathways in the polyglutamine disease spinocerebellar ataxia type 3 (SCA3).

207 gtin in Huntington's disease and ataxin 3 in spinocerebellar ataxia type 3 (SCA3).

208 Spinocerebellar ataxia type 3 (SCA3)/Machado Joseph dise

209 Spinocerebellar ataxia type 3 is a neurodegenerative dis

210 Machado-Joseph disease or spinocerebellar ataxia type 3 is an inherited neurodegen

211 ed that pathology in Friedreich's ataxia and spinocerebellar ataxia type 3 is not restricted to the c

212 Spinocerebellar ataxia type 3 is one of the polyglutamin

213 el for the CAG/polyglutamine (polyQ) disease spinocerebellar ataxia type 3 recapitulates key features

214 riptional alterations in the pathogenesis of spinocerebellar ataxia type 3 remains unclear.

215 Machado-Joseph disease (spinocerebellar ataxia type 3) (prevalence, 3.1 per 100,

216 gh, particularly for Machado-Joseph disease (spinocerebellar ataxia type 3).

217 Ataxin-3, the protein responsible for Spinocerebellar ataxia type 3, a polyglutamine expansion

218 show that ataxin-3, the protein involved in spinocerebellar ataxia type 3, also known as Machado-Jos

219 uitinating enzyme, is the disease protein in spinocerebellar ataxia type 3, one of many neurodegenera

220 Spinocerebellar ataxia type 3, spinocerebellar ataxia ty

221 phy of the nuclei in Friedreich's ataxia and spinocerebellar ataxia type 3.

222 The difference missed significance in spinocerebellar ataxia type 3.

223 in Friedreich's ataxia, and mildy reduced in spinocerebellar ataxia type 3.

224 he polyglutamine neurodegenerative disorder, Spinocerebellar Ataxia Type 3.

225 essed in myotonic dystrophy type 1 (DM1) and spinocerebellar ataxia type 3.

226 le therapeutic strategy for the treatment of spinocerebellar ataxia type 3.

227 r performance in a transgenic mouse model of spinocerebellar ataxia type 3.

228 at might be important in the pathogenesis of spinocerebellar ataxia type 3.

229 ase known both as Machado-Joseph disease and spinocerebellar ataxia type 3.

230 lei in patients with Friedreich's ataxia and spinocerebellar ataxia type 3.

231 In spinocerebellar ataxia type 3/Machado-Joseph disease (SC

232 glutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type 3/Machado-Joseph disease, on

233 ed UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, ca

234 Spinocerebellar ataxia type 35 (SCA35) is a rare autosom

235 the similar intronic GGCCTG HREs that causes spinocerebellar ataxia type 36 (SCA36) is also translate

236 bellar ataxia type 2; ATXN2, ATN1 and HTT in spinocerebellar ataxia type 3; ATXN1 and ATXN3 in spinoc

237 Spinocerebellar ataxia type 5 (SCA5) and spectrin associ

238 -III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia type 5 (SCA5) causes a dramatic i

239 t beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation

240 Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerat

241 Spinocerebellar ataxia type 5 (SCA5) is an autosomal dom

242 Spinocerebellar ataxia type 5 (SCA5) is an autosomal dom

243 A spinocerebellar ataxia type 5 (SCA5) L253P mutation in t

244 Spinocerebellar ataxia type 5 (SCA5), a dominant neurode

245 s in betaIII spectrin link strongly to human spinocerebellar ataxia type 5 (SCA5), correlating with a

246 Our data suggest that spinocerebellar ataxia Type 5 and spectrin-associated au

247 gene encoding beta-III spectrin give rise to spinocerebellar ataxia type 5, a neurodegenerative disea

248 associated with neurodegenerative syndromes, spinocerebellar ataxia Type 5, and spectrin-associated a

249 hy of the cerebellar nuclei in patients with spinocerebellar ataxia type 6 (n = 12, age range 41-76 y

250 Spinocerebellar ataxia type 6 (SCA6) belongs to the fami

251 Spinocerebellar ataxia type 6 (SCA6) is linked to poly-g

252 d at the pre-clinical and clinical stages of spinocerebellar ataxia type 6 (SCA6), an inherited neuro

253 amine tract which, when expanded (Q33) as in spinocerebellar ataxia type 6 (SCA6), is toxic to cells.

254 In spinocerebellar ataxia type 6 (SCA6), there is evidence

255 d into a polyglutamine tract associated with spinocerebellar ataxia type 6 (SCA6), whereas MPc splice

256 ne (polyQ) tract that, when expanded, causes spinocerebellar ataxia type 6 (SCA6).

257 Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia ar

258 imaging signal was significantly reduced in spinocerebellar ataxia type 6 and Friedreich's ataxia co

259 , reductions were significant when comparing spinocerebellar ataxia type 6 and Friedreich's ataxia to

260 current work, we show that in a subgroup of spinocerebellar ataxia type 6 individuals, temporal vari

261 ei have long been thought to be preserved in spinocerebellar ataxia type 6, histology shows marked at

262 In spinocerebellar ataxia type 6, pathology was not restric

263 me of the cerebellum was markedly reduced in spinocerebellar ataxia type 6, preserved in Friedreich's

264 the cerebellar nuclei was most pronounced in spinocerebellar ataxia type 6.

265 cerebellar ataxia type 3; ATXN1 and ATXN3 in spinocerebellar ataxia type 6; and ATXN3 and TBP in spin

266 Spinocerebellar ataxia type 7 (SCA7) is a debilitating n

267 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inh

268 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inh

269 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

270 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

271 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

272 Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine

273 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dom

274 Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG

275 The neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7) is caused by a poly

276 ine expansion at the amino terminus, causing spinocerebellar ataxia type 7 (SCA7), a progressive reti

277 to date of maternally transmitted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract o

278 In the polyglutamine disease spinocerebellar ataxia type 7 (SCA7), Purkinje cells und

279 plexes, causes the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7).

280 man polyglutamine neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7).

281 rebellar ataxia type 6; and ATXN3 and TBP in spinocerebellar ataxia type 7.

282 y, we show that RAN translation across human spinocerebellar ataxia type 8 (SCA8) and myotonic dystro

283 Spinocerebellar ataxia type 8 (SCA8) patients typically

284 usly reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressi

285 ng fragile X tremor ataxia syndrome (FXTAS), spinocerebellar ataxia type 8 (SCA8), SCA10, SCA12, and

286 ataxia syndrome, myotonic dystrophy type 1, spinocerebellar ataxia type 8, and the nine polyglutamin

287 polyglutamine protein whose expansion causes spinocerebellar ataxia type-1 (SCA1) and triggers the fo

288 ve disorder protein whose mutant form causes spinocerebellar ataxia type-1 (SCA1).

289 expanded polyglutamine (polyQ) repeat causes spinocerebellar ataxia type-3 (SCA3), also called Machad

290 Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associ

291 cted individuals with identified expansions (spinocerebellar ataxia types 1, 2, 3, 6 and 7), recruite

292 ciation between age at onset and CAG size in spinocerebellar ataxia types 1, 3 and 6.

293 normal alleles in trans in individuals with spinocerebellar ataxia types 1, 6 and 7.

294 rom lymphoblastoid cells derived either from spinocerebellar ataxia with axonal neuropathy (SCAN1) pa

295 syl-DNA phosphodiesterase 1 (TDP1) can cause spinocerebellar ataxia with axonal neuropathy (SCAN1), a

296 contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (SCAN1).

297 ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1).

298 n murine models of ataxia telangiectasia and spinocerebellar ataxia with axonal neuropathy 1.

299 DNA likely explains the recessive nature of spinocerebellar ataxia with axonal neuropathy.

300 gical diseases: ataxia oculomotor apraxia 1, spinocerebellar ataxia with neuronal neuropathy 1 and mi