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 s disease, Huntington's disease, and several 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 s gene have been linked to the human disease spinocerebellar ataxia 13, associated with cerebellar an

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

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

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

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

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

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

21 Spinocerebellar ataxia 2 (SCA2) is a neurodegenerative d

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

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

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

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

26 Spinocerebellar ataxia 38 (SCA38) is caused by mutations

27 ker linked to the neurodegenerative disorder spinocerebellar ataxia 5.

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

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

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

31 Spinocerebellar Ataxia 8 (SCA8) appears unique among tri

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

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

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

35 urodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease.

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

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

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

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

40 ns in Tdp1 have been linked to patients with spinocerebellar ataxia, and over-expression of Tdp1 resu

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

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

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

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

45 The spinocerebellar ataxias are a genetically heterogeneous

46 Spinocerebellar ataxias are dominantly inherited neurode

47 Dominantly inherited ataxias (spinocerebellar ataxias) are one major group of ataxias.

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

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

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

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

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

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

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

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

56 wn function, whose mutant form causes type 1 spinocerebellar ataxia in humans and exerts neurotoxicit

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

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

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

60 Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe

61 Since spinocerebellar ataxia is associated with mutations in h

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

63 are clinically indistinguishable from other spinocerebellar ataxia patients.

64 dystrophy, Huntington's disease and several spinocerebellar ataxias, result from intergenerational i

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

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

67 Spinocerebellar ataxia (SCA) in the Parson Russell Terri

68 report a nonepisodic autosomal dominant (AD) spinocerebellar ataxia (SCA) not caused by a nucleotide

69 Spinocerebellar ataxia (SCA), previously known as autoso

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

71 The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genet

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

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

76 Spinocerebellar ataxias (SCAs) are a genetically heterog

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

78 Spinocerebellar ataxias (SCAs) are a heterogeneous group

79 The spinocerebellar ataxias (SCAs) are a phenotypically and

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

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

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

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

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

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

86 Spinocerebellar ataxia syndromes presenting in adulthood

87 In spinocerebellar ataxia, the brain and retina undergo deg

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

89 yglutamine expansion diseases, which include spinocerebellar ataxia type 1 (SCA1) and Huntington dise

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

91 whose glutamine-repeat expanded form causes spinocerebellar ataxia type 1 (SCA1) in humans and exert

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

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

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

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

96 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

97 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

98 Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerat

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

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

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

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

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

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

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

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

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

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

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

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

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

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

122 y as well, both as a mediator of toxicity in spinocerebellar ataxia type 1 and as a tumor suppressor

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

124 Spinocerebellar ataxia type 1 is a late-onset neurodegen

125 Spinocerebellar ataxia type 1 is an autosomal dominant c

126 Spinocerebellar ataxia type 1 is an autosomal dominant f

127 Spinocerebellar ataxia type 1 is caused by expansion of

128 Spinocerebellar ataxia type 1 is one of nine polyglutami

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

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

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

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

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

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

135 elated progressive neurodegeneration seen in spinocerebellar ataxia type 1.

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

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

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

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

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

141 Spinocerebellar ataxia type 10 (SCA10) is an autosomal d

142 Spinocerebellar ataxia type 10 (SCA10) is associated wit

143 Spinocerebellar ataxia type 10 (SCA10) is one of numerou

144 Recently, spinocerebellar ataxia type 10 has been associated with

145 Spinocerebellar ataxia type 10 is an autosomal dominant

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

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

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

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

150 Spinocerebellar ataxia type 13 (SCA13) patients carrying

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

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

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

154 Spinocerebellar ataxia type 13 is a rare autosomal-domin

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

156 kinase C gamma (PKCgamma) gene is mutated in spinocerebellar ataxia type 14 (SCA14).

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

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

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

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

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

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

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

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

165 Spinocerebellar ataxia type 2 (SCA2) is caused by the ex

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

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

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

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

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

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

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

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

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

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

176 implicated in the neurodegenerative disorder spinocerebellar ataxia type 2.

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

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

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

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

181 Spinocerebellar ataxia type 23 is caused by mutations in

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

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

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

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

186 Spinocerebellar ataxia type 28 (SCA28) is a neurodegener

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

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

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

190 = 12, age range 21-55 years, seven female), spinocerebellar ataxia type 3 (n = 10, age range 34-67 y

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

192 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerat

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

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

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

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

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

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

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

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

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

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

203 Spinocerebellar ataxia type 3 is a human neurodegenerati

204 Spinocerebellar ataxia type 3 is a neurodegenerative dis

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

206 Spinocerebellar ataxia type 3 is one of the polyglutamin

207 ed polyglutamine tract in the context of the spinocerebellar ataxia type 3 protein, display only nucl

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

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

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

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

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

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

214 n in the protein ataxin-3 is associated with spinocerebellar ataxia type 3, an inherited neurodegener

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

216 Spinocerebellar ataxia type 3, spinocerebellar ataxia ty

217 he polyglutamine neurodegenerative disorder, Spinocerebellar Ataxia Type 3.

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

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

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

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

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

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

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

225 The difference missed significance in spinocerebellar ataxia type 3.

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

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

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

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

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

231 Spinocerebellar ataxia type 5 (SCA5) and spectrin associ

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

233 Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerat

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

253 In spinocerebellar ataxia type 6, pathology was not restric

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

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

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

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

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

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

260 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

261 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

262 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerat

263 Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine

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

265 Spinocerebellar ataxia type 7 (SCA7) is an inherited neu

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

267 Spinocerebellar ataxia type 7 (SCA7) is characterized by

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

269 or CAG/CTG repeat instability in the case of spinocerebellar ataxia type 7 (SCA7), one of the most un

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

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

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

273 scribe an infant with 180 CAG repeats in the spinocerebellar ataxia type 7 gene and focus on systemic

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

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

276 Spinocerebellar ataxia type 8 (SCA8) patients typically

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

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

279 inantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8).

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

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

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

283 domain of ataxin-1, the protein involved in spinocerebellar ataxia type-1, is the region responsible

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

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

286 ptions within the (CAG)n or (CGG)n tracts of spinocerebellar ataxia, type 1 or fragile X syndrome, re

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

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

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

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

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

292 The inherited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), i

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

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

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

296 The spinocerebellar ataxia with axonal neuropathy neurodegen

297 Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1)

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

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

300 of gkt causes the neurodegenerative disease spinocerebellar ataxia with neuropathy (SCAN1), making i