ライフサイエンスコーパス: spinal muscular atrophy

1 ion of active survival motor neuron 2 (SMN2, spinal muscular atrophy).

2 motor neuron protein (SMN) cause the disease spinal muscular atrophy.

3 ditary sensory neuropathy type 1, and non-5q spinal muscular atrophy.

4 sclerosis, hereditary spastic paraplegia and spinal muscular atrophy.

5 r ataxia, amyotrophic lateral sclerosis, and spinal muscular atrophy.

6 a-SMN deficiency in the etiopathogenesis of spinal muscular atrophy.

7 disease, amyotrophic lateral sclerosis, and spinal muscular atrophy.

8 including amyotrophic lateral sclerosis and spinal muscular atrophy.

9 developing postnatal nervous system, such as spinal muscular atrophy.

10 nd SMN (survival of motor neuron protein) in spinal muscular atrophy.

11 efects may be one strategy in treating human spinal muscular atrophy.

12 disease, amyotrophic lateral sclerosis, and spinal muscular atrophy.

13 eletion or mutation of SMN is known to cause spinal muscular atrophy.

14 rons could represent a target for therapy in spinal muscular atrophy.

15 anged the standard of care for patients with spinal muscular atrophy.

16 MN1 result in a neuromuscular disease called spinal muscular atrophy.

17 n is part of the clinical spectrum of severe spinal muscular atrophy.

18 n fibroblast samples taken from a child with spinal muscular atrophy.

19 urvival of motor neuron 1 gene (SMN1) causes spinal muscular atrophy.

20 cause the motor neuron degenerative disease, spinal muscular atrophy.

21 sclerosis (ALS), atypical ALS and late-onset spinal muscular atrophy.

22 hemical activity in cells from patients with spinal muscular atrophy.

23 microtubule motility in neurons may underlie spinal muscular atrophy.

24 d safety trial of nusinersen in infants with spinal muscular atrophy.

25 ) protein that is deficient in patients with spinal muscular atrophy.

26 fied antisense drug being developed to treat spinal muscular atrophy.

27 quivalents) in patients with infantile-onset spinal muscular atrophy.

28 stem cells (iMNs) from a patient affected by spinal muscular atrophy.

29 nical study of nusinersen in infantile-onset spinal muscular atrophy.

30 es such as amyotrophic lateral sclerosis and spinal muscular atrophy.

31 ons, including those involved in cancers and spinal muscular atrophy.

32 human DcpS enzyme, a therapeutic target for spinal muscular atrophy.

33 es such as amyotrophic lateral sclerosis and spinal muscular atrophy.

34 Deficiency in functional SMN protein causes spinal muscular atrophy, a common motor neuron degenerat

35 e survival motor neuron (SMN) protein causes spinal muscular atrophy, a neurodegenerative disease cha

36 , Parkinson's, and Huntington's diseases and spinal muscular atrophy, a non-ALS motor neuron disease.

37 Reduced expression of SMN causes spinal muscular atrophy, a severe neurodegenerative dise

38 other amyloidopathies, Parkinson's disease, spinal muscular atrophy, amyotrophic lateral sclerosis a

39 scular disease, Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis,

40 ases, including Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis,

41 iseases such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis,

42 t-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neur

43 n SMN2 and dystrophin, genes responsible for spinal muscular atrophy and Duchenne muscular dystrophy,

44 ghlight the characteristics of diseases like spinal muscular atrophy and familial dysautonomia that a

45 s in the understanding of recessive proximal spinal muscular atrophy and how this is leading to excit

46 of related neuromuscular diseases, including spinal muscular atrophy and myotonic dystrophy, where de

47 eases such as amyotrophic lateral sclerosis, spinal muscular atrophy and spinobulbar muscular atrophy

48 f disease mechanisms for myotonic dystrophy, spinal muscular atrophy, and fragile X syndrome, with br

49 myotonic dystrophy, mitochondrial myopathy, spinal muscular atrophy, and hereditary neuropathies.

50 eases such as amyotrophic lateral sclerosis, spinal muscular atrophy, and spinobulbar muscular atroph

51 In children, inherited spinal muscular atrophies are the predominant diseases t

52 he effects of the neurodegenerative disorder spinal muscular atrophy because of reduced levels of Sur

53 entified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause d

54 ed in fibroblasts derived from patients with spinal muscular atrophy by using bifunctional targeted o

55 ition to adult care; (3) muscular dystrophy, spinal muscular atrophy, cystic fibrosis, haemophilia an

56 Early spinal muscular atrophy disease detection and treatment

57 hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropa

58 questions in amyotrophic lateral sclerosis, spinal muscular atrophy, glaucoma, Alzheimer's disease,

59 s regarding the genetics and pathogenesis of spinal muscular atrophy have identified potential target

60 the Vps54 subunit of GARP is responsible for spinal muscular atrophy in the wobbler mouse, an animal

61 Spinal muscular atrophy is a common motor neuron disease

62 Spinal muscular atrophy is a disorder of lower motor neu

63 Spinal muscular atrophy is a fatal genetic disease of mo

64 Spinal muscular atrophy is a leading genetic cause of in

65 Spinal muscular atrophy is a neuromuscular disorder mani

66 Spinal muscular atrophy is an autosomal recessive neurod

67 Spinal muscular atrophy is an autosomal recessive neurom

68 Spinal muscular atrophy is an inherited motor neuron dis

69 Spinal muscular atrophy is an untreatable potentially fa

70 Childhood spinal muscular atrophy is caused by a reduced expressio

71 Spinal muscular atrophy is caused by loss of the surviva

72 The neurodegenerative disease spinal muscular atrophy is caused by mutation of the sur

73 Spinal muscular atrophy is caused by the loss of the SMN

74 use of ASOs to alter gene-splicing to treat spinal muscular atrophy is in phase 3 clinical trials.

75 Spinal muscular atrophy is one of the most common inheri

76 Spinal muscular atrophy is the most common genetic cause

77 Spinal muscular atrophy is the most common genetic kille

78 ay a role in a number of diseases, including spinal muscular atrophy, leukemia, lymphoma, and breast

79 Overall, the features of BICD2 spinal muscular atrophy, lower extremity predominant are

80 BICD2 spinal muscular atrophy, lower extremity predominant mos

81 Spinal muscular atrophy, lower extremity-predominant, is

82 ritional support extended median survival of spinal muscular atrophy mice by 170%.

83 e of the major gene products dysregulated in spinal muscular atrophy models in mice.

84 roblasts have been used extensively to study spinal muscular atrophy, motor neurons have a unique ana

85 unction could account, at least in part, for spinal muscular atrophy onset and pathological specifici

86 homozygous familial hypercholesterolemia and spinal muscular atrophy) or as research tools to alter g

87 plicing and points toward its involvement in spinal muscular atrophy pathogenesis.

88 Spinal muscular atrophy patients account for 5.1% or 1.8

89 Furthermore, extracts of cells from spinal muscular atrophy patients have a lower capacity f

90 cing, interacts with the Tudor domain of the spinal muscular atrophy protein SMN in a CARM1-dependent

91 Spinal muscular atrophy (SMA) and amyotrophic lateral sc

92 targets in the lethal motor neuron diseases spinal muscular atrophy (SMA) and amyotrophic lateral sc

93 human survival motor neurons 1 (SMN1) cause spinal muscular atrophy (SMA) and are associated with de

94 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system

95 degenerative conditions of childhood such as spinal muscular atrophy (SMA) and neuronal ceroid lipofu

96 The motor neuron disease spinal muscular atrophy (SMA) causes profound muscle wea

97 A number of mouse models for spinal muscular atrophy (SMA) have been genetically engi

98 , was identified as a protective modifier of spinal muscular atrophy (SMA) in some patient population

99 Spinal muscular atrophy (SMA) is a common (approximately

100 Spinal muscular atrophy (SMA) is a common and often fata

101 Proximal spinal muscular atrophy (SMA) is a common autosomal rece

102 Spinal muscular atrophy (SMA) is a common autosomal-rece

103 Spinal muscular atrophy (SMA) is a common neurodegenerat

104 Spinal muscular atrophy (SMA) is a common neuromuscular

105 Spinal muscular atrophy (SMA) is a common pediatric neur

106 Proximal spinal muscular atrophy (SMA) is a debilitating neurolog

107 The underlying cause of spinal muscular atrophy (SMA) is a deficiency of the sur

108 Spinal muscular atrophy (SMA) is a devastating neuromusc

109 Feline spinal muscular atrophy (SMA) is a fully penetrant, auto

110 Spinal muscular atrophy (SMA) is a genetic disease cause

111 Spinal muscular atrophy (SMA) is a genetic disease chara

112 Spinal muscular atrophy (SMA) is a genetic disorder caus

113 Spinal muscular atrophy (SMA) is a genetic disorder char

114 Spinal muscular atrophy (SMA) is a hereditary neurodegen

115 Spinal muscular atrophy (SMA) is a lethal human disease

116 Spinal muscular atrophy (SMA) is a major inherited cause

117 Spinal muscular atrophy (SMA) is a motoneuron disease ca

118 Spinal muscular atrophy (SMA) is a motor neuron degenera

119 Spinal muscular atrophy (SMA) is a motor neuron disease

120 Spinal muscular atrophy (SMA) is a motor neuron disease

121 Spinal muscular atrophy (SMA) is a motor neuron disease

122 Spinal muscular atrophy (SMA) is a motor neuron disease

123 Spinal muscular atrophy (SMA) is a neurodegenerative dis

124 Spinal muscular atrophy (SMA) is a neurodegenerative dis

125 Spinal muscular atrophy (SMA) is a neurodegenerative dis

126 Proximal spinal muscular atrophy (SMA) is a neurodegenerative dis

127 Spinal muscular atrophy (SMA) is a neurodegenerative dis

128 Spinal muscular atrophy (SMA) is a neurodegenerative dis

129 Spinal muscular atrophy (SMA) is a neurodegenerative dis

130 Spinal muscular atrophy (SMA) is a neurodegenerative dis

131 Spinal muscular atrophy (SMA) is a neurological disorder

132 Spinal muscular atrophy (SMA) is a neuromuscular disease

133 Spinal muscular atrophy (SMA) is a neuromuscular disease

134 Spinal muscular atrophy (SMA) is a neuromuscular disease

135 Spinal muscular atrophy (SMA) is a neuromuscular disease

136 Spinal muscular atrophy (SMA) is a neuromuscular disease

137 Spinal muscular atrophy (SMA) is a neuromuscular disorde

138 Proximal spinal muscular atrophy (SMA) is a neuromuscular disorde

139 Spinal Muscular Atrophy (SMA) is a neuromuscular disorde

140 Spinal muscular atrophy (SMA) is a pediatric neuromuscul

141 Spinal muscular atrophy (SMA) is a progressive motor neu

142 Spinal muscular atrophy (SMA) is a progressive neurodege

143 Spinal muscular atrophy (SMA) is a progressive neurodege

144 Spinal muscular atrophy (SMA) is a recessive neuromuscul

145 Spinal Muscular Atrophy (SMA) is an autosomal recessive

146 Spinal muscular atrophy (SMA) is an autosomal recessive

147 Spinal muscular atrophy (SMA) is an autosomal recessive

148 Spinal muscular atrophy (SMA) is an autosomal recessive

149 Spinal muscular atrophy (SMA) is an autosomal recessive

150 Spinal muscular atrophy (SMA) is an autosomal recessive

151 Spinal muscular atrophy (SMA) is an autosomal recessive

152 Proximal spinal muscular atrophy (SMA) is an autosomal recessive

153 Spinal muscular atrophy (SMA) is an autosomal recessive

154 Spinal muscular atrophy (SMA) is an autosomal recessive

155 Spinal muscular atrophy (SMA) is an autosomal-recessive

156 Spinal muscular atrophy (SMA) is an autosomal-recessive

157 Spinal muscular atrophy (SMA) is an autosomal-recessive

158 Spinal muscular atrophy (SMA) is an autosomal-recessive

159 Spinal muscular atrophy (SMA) is an inherited motor neur

160 Spinal muscular atrophy (SMA) is an inherited motor neur

161 Spinal muscular atrophy (SMA) is caused by a drastic red

162 The motor neuron (MN) degenerative disease, spinal muscular atrophy (SMA) is caused by deficiency of

163 Spinal muscular atrophy (SMA) is caused by deficiency of

164 The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by deficient exp

165 Spinal muscular atrophy (SMA) is caused by deletions or

166 Spinal muscular atrophy (SMA) is caused by deletions or

167 Spinal muscular atrophy (SMA) is caused by depletion of

168 Spinal Muscular Atrophy (SMA) is caused by diminished Su

169 Spinal muscular atrophy (SMA) is caused by homozygous mu

170 Spinal muscular atrophy (SMA) is caused by homozygous mu

171 Spinal muscular atrophy (SMA) is caused by homozygous su

172 Spinal muscular atrophy (SMA) is caused by loss of the s

173 Spinal muscular atrophy (SMA) is caused by loss of the s

174 The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of

175 Spinal muscular atrophy (SMA) is caused by low levels of

176 Spinal muscular atrophy (SMA) is caused by mutation of t

177 The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of t

178 Spinal muscular atrophy (SMA) is caused by mutation or d

179 Spinal Muscular Atrophy (SMA) is caused by mutation or d

180 Spinal muscular atrophy (SMA) is caused by mutations in

181 The childhood autosomal recessive disorder spinal muscular atrophy (SMA) is caused by mutations in

182 Spinal muscular atrophy (SMA) is caused by mutations of

183 Spinal muscular atrophy (SMA) is caused by reduced level

184 Spinal muscular atrophy (SMA) is caused by reduced level

185 The motor neuron disease spinal muscular atrophy (SMA) is caused by reduced level

186 eutic approach to SMA.SIGNIFICANCE STATEMENT Spinal muscular atrophy (SMA) is caused by the loss of m

187 Spinal muscular atrophy (SMA) is caused by the loss or m

188 Spinal muscular atrophy (SMA) is caused by the low level

189 While spinal muscular atrophy (SMA) is characterized by motor

190 Spinal muscular atrophy (SMA) is characterized by the se

191 l severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels

192 Spinal Muscular Atrophy (SMA) is due to the loss of the

193 Spinal muscular atrophy (SMA) is one of the most common

194 Proximal spinal muscular atrophy (SMA) is the leading genetic cau

195 Spinal muscular atrophy (SMA) is the leading genetic cau

196 Spinal muscular atrophy (SMA) is the leading genetic cau

197 Spinal muscular atrophy (SMA) is the leading genetic cau

198 Infantile-onset spinal muscular atrophy (SMA) is the most common genetic

199 Spinal muscular atrophy (SMA) is the most common genetic

200 Proximal spinal muscular atrophy (SMA) is the most frequent cause

201 Spinal muscular atrophy (SMA) is the number 1 genetic ki

202 cle, and neuromuscular junction pathology of spinal muscular atrophy (SMA) mice.

203 unction and structure of spinal circuitry in spinal muscular atrophy (SMA) model mice.

204 Consensus Statement for Standard of Care in Spinal Muscular Atrophy (SMA) notes that patients suffer

205 genital myotonic dystrophy type 1 (CDM1) and spinal muscular atrophy (SMA) patients.

206 Spinal muscular atrophy (SMA) presents severe muscle wea

207 Clinical presentation of spinal muscular atrophy (SMA) ranges from a neonatal-ons

208 Spinal muscular atrophy (SMA) remains one of the most co

209 utosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of

210 The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expre

211 Spinal muscular atrophy (SMA) results from reduced level

212 regulated in iPSC-derived motor neurons from Spinal Muscular Atrophy (SMA) type 1 patient's.

213 leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetica

214 tor Neuron 1 (SMN1) protein in humans causes Spinal Muscular Atrophy (SMA), a debilitating childhood

215 Spinal muscular atrophy (SMA), a devastating neurodegene

216 tations in the SMN1 gene are associated with spinal muscular atrophy (SMA), a devastating neurodegene

217 r Neurons (SMN) protein are a major cause of spinal muscular atrophy (SMA), a disease characterized b

218 tor neurons is a promising approach to treat spinal muscular atrophy (SMA), a genetic neurodegenerati

219 Spinal muscular atrophy (SMA), a heritable neurodegenera

220 euron 2 (SMN2) holds the promise for cure of spinal muscular atrophy (SMA), a leading genetic cause o

221 SMN2) exon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease

222 Spinal muscular atrophy (SMA), a leading genetic disease

223 Spinal muscular atrophy (SMA), a motoneuron disease caus

224 MN2) is a gene that modifies the severity of spinal muscular atrophy (SMA), a motor-neuron disease th

225 Reduced expression of SMN protein causes spinal muscular atrophy (SMA), a neurodegenerative disor

226 Spinal muscular atrophy (SMA), a progressive neurodegene

227 Spinal muscular atrophy (SMA), a recessive genetic disea

228 Spinal muscular atrophy (SMA), a recessive neurodegenera

229 Spinal muscular atrophy (SMA), a recessive neuromuscular

230 Here we show that, in a mouse model of spinal muscular atrophy (SMA), a reduction in propriocep

231 Recent evidence of IGF-1 axis alteration in spinal muscular atrophy (SMA), a very severe neurodegene

232 Affected individuals suffer from a spinal muscular atrophy (SMA), amyotrophic lateral scler

233 Spinal muscular atrophy (SMA), an autosomal recessive ge

234 e Survival Motor Neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), an autosomal recessive ne

235 Spinal muscular atrophy (SMA), an autosomal recessive ne

236 Spinal muscular atrophy (SMA), an inherited disease of m

237 ultiple degenerative contexts including ALS, spinal muscular atrophy (SMA), and aging, fast-fatigable

238 , such as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid m

239 ival of motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the pathogenesis mech

240 he infant/childhood onset motoneuron disease spinal muscular atrophy (SMA), caused by low levels of t

241 Spinal muscular atrophy (SMA), caused by the deletion of

242 n zebrafish models of the motoneuron disease spinal muscular atrophy (SMA), motor axons fail to form

243 cluding Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA), Multiple Sclerosis (MS) H

244 Proximal spinal muscular atrophy (SMA), one of the most common ge

245 In spinal muscular atrophy (SMA), SMN2 is not able to compe

246 Spinal muscular atrophy (SMA), the leading genetic cause

247 Spinal muscular atrophy (SMA), the leading genetic cause

248 Spinal muscular atrophy (SMA), the leading genetic disor

249 Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devas

250 Spinal muscular atrophy (SMA), the most common autosomal

251 The neuromuscular disorder spinal muscular atrophy (SMA), the most common inherited

252 Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal ge

253 euron (SMN) gene underlie the development of spinal muscular atrophy (SMA), which currently represent

254 olecule therapeutics for the genetic disease spinal muscular atrophy (SMA), which is caused by the lo

255 ly, SMN-Gemin2 interaction is abrogated by a spinal muscular atrophy (SMA)-causing mutation in an SMN

256 ansgenic mice are well-established models of spinal muscular atrophy (SMA).

257 rvival of motor neuron (SMN) protein lead to spinal muscular atrophy (SMA).

258 s a modifier of the human motoneuron disease spinal muscular atrophy (SMA).

259 MN1 gene result in the motor neuron disease, spinal muscular atrophy (SMA).

260 devastating childhood neuromuscular disease, spinal muscular atrophy (SMA).

261 s are moving towards a potential therapy for spinal muscular atrophy (SMA).

262 SMN) protein cause the motor neuron disease, spinal muscular atrophy (SMA).

263 ne causes the childhood motor neuron disease spinal muscular atrophy (SMA).

264 , restoring SMN to levels that could correct spinal muscular atrophy (SMA).

265 ment for the inherited motor neuron disease, spinal muscular atrophy (SMA).

266 ctor for the human neurodegenerative disease spinal muscular atrophy (SMA).

267 causes the motor neuron degenerative disease spinal muscular atrophy (SMA).

268 improves motor function in a mouse model of spinal muscular atrophy (SMA).

269 ld account for the death of motor neurons in spinal muscular atrophy (SMA).

270 Homozygous loss of SMN1 causes spinal muscular atrophy (SMA).

271 e an effective strategy for the treatment of spinal muscular atrophy (SMA).

272 therapy for neuromuscular diseases, such as spinal muscular atrophy (SMA).

273 which is found in patients with the disease spinal muscular atrophy (SMA).

274 survival motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA).

275 ) is a hallmark of the neuromuscular disease spinal muscular atrophy (SMA); however, it is unclear wh

276 scle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectiv

277 ouse model of the devastating human disease "spinal muscular atrophy" (SMA) was used to investigate t

278 Spinal muscular atrophies (SMAs) are a heterogeneous gro

279 inical, genetic, and therapeutic advances in spinal muscular atrophies (SMAs), inherited disorders ch

280 Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and

281 tween 3 weeks and 7 months old with onset of spinal muscular atrophy symptoms between 3 weeks and 6 m

282 he survival motor neuron (SMN) protein cause spinal muscular atrophy, the leading genetic disorder fo

283 Among infants with spinal muscular atrophy, those who received nusinersen w

284 range of neurodegenerative diseases, such as spinal muscular atrophy, through targeting of motor neur

285 A therapeutic avenue for spinal muscular atrophy treatment is to promote exon 7 i

286 Spinal muscular atrophy type 1 (SMA1) is a progressive,

287 rie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal neuro

288 se phenotype was initially defined as distal spinal muscular atrophy type V (dSMA-V) in three familie

289 ishes CMT2D from the allelic disorder distal spinal muscular atrophy type V.

290 ned to treat Duchenne muscular dystrophy and spinal muscular atrophy, which are currently being teste

291 nRNA quality control may also be relevant in spinal muscular atrophy, which is caused by defects in t

292 ubunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominanc

293 ngles (Loa) (DYNC1H1(F580Y)) mouse model for spinal muscular atrophy with lower extremity predominanc

294 lformations in cortical development (MCD) or spinal muscular atrophy with lower extremity predominanc

295 ype-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later

296 Spinal muscular atrophy with pontocerebellar hypoplasia

297 e neuromuscular degeneration (nmd) mouse and spinal muscular atrophy with respiratory distress (SMARD

298 IGHMBP2 mutations usually lead to spinal muscular atrophy with respiratory distress type 1

299 The human motor neuron degenerative disease spinal muscular atrophy with respiratory distress type 1

300 licated in amyotrophic lateral sclerosis and spinal muscular atrophy, yet its function in the nervous