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 fied antisense drug being developed to treat spinal muscular atrophy.

3 and efficacy of nusinersen in adults with 5q spinal muscular atrophy.

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

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

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

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

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

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

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

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

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

13 sclerosis, hereditary spastic paraplegia and spinal muscular atrophy.

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

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

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

17 including amyotrophic lateral sclerosis and spinal muscular atrophy.

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

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

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

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

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

23 inated by recent successful interventions of spinal muscular atrophy.

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

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

26 rsen, has been approved for the treatment of spinal muscular atrophy.

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

28 microtubule motility in neurons may underlie spinal muscular atrophy.

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

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

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

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

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

34 Patients with genetically confirmed 5q spinal muscular atrophy (age 16-65 years) with a homozyg

35 PTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-tha

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

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

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

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

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

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

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

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

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

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

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

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

48 for the treatment of inherited blindness and spinal muscular atrophy, and long-term therapeutic effec

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

50 nant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy, and the onset of symptoms range

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 ect both children and adults with a focus on spinal muscular atrophy, Charcot-Marie-Tooth disease and

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

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

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

59 Spinal muscular atrophy is a common motor neuron disease

60 Spinal muscular atrophy is a disorder of lower motor neu

61 Spinal muscular atrophy is a fatal genetic disease of mo

62 5q-Associated spinal muscular atrophy is a hereditary neuromuscular di

63 Spinal muscular atrophy is a leading genetic cause of in

64 ul application of virus-mediated GT to treat spinal muscular atrophy is a significant milestone, serv

65 Spinal muscular atrophy is an autosomal recessive neurod

66 Spinal muscular atrophy is an autosomal recessive neurom

67 Spinal muscular atrophy is an inherited motor neuron dis

68 Spinal muscular atrophy is an untreatable potentially fa

69 Childhood spinal muscular atrophy is caused by a reduced expressio

70 Spinal muscular atrophy is caused by loss of the surviva

71 Spinal muscular atrophy is caused by reduced levels of S

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

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

74 Spinal muscular atrophy is the most common genetic cause

75 Spinal muscular atrophy is the most common genetic kille

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

77 and de novo variants in BICD2 cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), and

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

79 BICD2 spinal muscular atrophy, lower extremity predominant mos

80 Spinal muscular atrophy, lower extremity-predominant, is

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

82 to models of neuromuscular disease, such as spinal muscular atrophy, NMJ disorder and muscular dystr

83 sinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patie

84 success, for Duchenne muscular dystrophy and spinal muscular atrophy, offers hope not only for additi

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 Spinal muscular atrophy patients account for 5.1% or 1.8

88 ent with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages ranging from 2

89 In addition to the benefit to spinal muscular atrophy patients, there are discoveries

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

91 Spinal muscular atrophy (SMA) and amyotrophic lateral sc

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

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

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

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

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

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

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

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

100 Spinal muscular atrophy (SMA) is a common neuromuscular

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

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

103 Spinal muscular atrophy (SMA) is a devastating infantile

104 Spinal muscular atrophy (SMA) is a devastating neuromusc

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

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

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

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

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

110 Spinal muscular atrophy (SMA) is a hereditary neurodegen

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

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

113 Spinal Muscular Atrophy (SMA) is a monogenic neurodegene

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

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

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

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

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

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

120 e SMA motor phenotype.SIGNIFICANCE STATEMENT Spinal muscular atrophy (SMA) is a neurodegenerative dis

121 Spinal muscular atrophy (SMA) is a neurodegenerative dis

122 Spinal muscular atrophy (SMA) is a neurodegenerative dis

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 neurological disorder

130 Spinal muscular atrophy (SMA) is a neuromuscular disease

131 Spinal muscular atrophy (SMA) is a neuromuscular disease

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 disease

138 Spinal muscular atrophy (SMA) is a neuromuscular disease

139 Spinal muscular atrophy (SMA) is a neuromuscular disorde

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

141 Spinal muscular atrophy (SMA) is a neuromuscular disorde

142 Spinal Muscular Atrophy (SMA) is a neuromuscular disorde

143 Spinal muscular atrophy (SMA) is a pediatric neuromuscul

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

145 Spinal muscular atrophy (SMA) is a progressive neurodege

146 Spinal muscular atrophy (SMA) is a progressive neurodege

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 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 autosomal-recessive

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

175 Spinal muscular atrophy (SMA) is caused by loss-of-funct

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

193 A pathological hallmark of spinal muscular atrophy (SMA) is severe motor neuron (MN

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

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

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

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

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

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

204 Spinal muscular atrophy (SMA) occurs as a result of cell

205 te the activation of SMN2 exon 7 splicing in spinal muscular atrophy (SMA) patient fibroblasts, sugge

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

207 Spinal muscular atrophy (SMA) presents severe muscle wea

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

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

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

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

212 Spinal muscular atrophy (SMA) results from reduced level

213 for measuring SMN1 and SMN2 copy numbers in spinal muscular atrophy (SMA) samples has not been repor

214 Spinal muscular atrophy (SMA) type 0 is the most severe

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

216 data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using th

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

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

219 Spinal muscular atrophy (SMA), a devastating neurodegene

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

221 Spinal muscular atrophy (SMA), a heritable neurodegenera

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

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

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

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

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

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 nk between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the AS

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

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

240 emerging as a prominent systemic feature of spinal muscular atrophy (SMA), but little is known about

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

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

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

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

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

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

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

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

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

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

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

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

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

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

255 tance of cell-cell interaction at the NMJ in spinal muscular atrophy (SMA), X-linked spinal and bulba

256 ss of which causes the neuromuscular disease spinal muscular atrophy (SMA)-binds to ribosomes and tha

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

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

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

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

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

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

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

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

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

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

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

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

269 fatal infantile-onset motor neuron disorder, spinal muscular atrophy (SMA).

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

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

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

273 utions to neurodegenerative diseases such as spinal muscular atrophy (SMA).

274 k between two motor neuron diseases, ALS and spinal muscular atrophy (SMA).

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

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

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

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

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

280 Spinal muscular atrophies (SMAs) are a heterogeneous gro

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

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

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

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

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

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

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

288 ledge on resting energy expenditure (REE) in spinal muscular atrophy type I (SMAI) is still limited.

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

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

299 usinersen in the treatment of adults with 5q spinal muscular atrophy, with clinically meaningful impr

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