ライフサイエンスコーパス: muscular atrophy

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

2 cluding those involved in cancers and spinal muscular atrophy.

3 DcpS enzyme, a therapeutic target for spinal muscular atrophy.

4 as amyotrophic lateral sclerosis and spinal muscular atrophy.

5 euron protein (SMN) cause the disease spinal muscular atrophy.

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

7 is, hereditary spastic paraplegia and spinal muscular atrophy.

8 a, amyotrophic lateral sclerosis, and spinal muscular atrophy.

9 ved in the pathogenesis of spinal and bulbar muscular atrophy.

10 lerosis was made; 4 patients had progressive muscular atrophy.

11 f arimoclomol in mice with spinal and bulbar muscular atrophy.

12 ssociated with motor neuron degeneration and muscular atrophy.

13 deficiency in the etiopathogenesis of spinal muscular atrophy.

14 e, amyotrophic lateral sclerosis, and spinal muscular atrophy.

15 may be one strategy in treating human spinal muscular atrophy.

16 hese were similar to controls in progressive muscular atrophy.

17 ing amyotrophic lateral sclerosis and spinal muscular atrophy.

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

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

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

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

22 cts that distinguished this from progressive muscular atrophy.

23 fined group of disorders, termed progressive muscular atrophy.

24 sis, spinal muscular atrophy and spinobulbar muscular atrophy.

25 uld represent a target for therapy in spinal muscular atrophy.

26 an Hsp90 client mutated in spinal and bulbar muscular atrophy.

27 disease, hereditary ataxias and spinobulbar muscular atrophy.

28 bule motility in neurons may underlie spinal muscular atrophy.

29 is, spinal muscular atrophy, and spinobulbar muscular atrophy.

30 y trial of nusinersen in infants with spinal muscular atrophy.

31 in that is deficient in patients with spinal muscular atrophy.

32 tal muscle regeneration for the treatment of muscular atrophy.

33 tisense drug being developed to treat spinal muscular atrophy.

34 nts) in patients with infantile-onset spinal muscular atrophy.

35 lls (iMNs) from a patient affected by spinal muscular atrophy.

36 tudy of nusinersen in infantile-onset spinal muscular atrophy.

37 as amyotrophic lateral sclerosis and spinal muscular atrophy.

38 val motor neuron (SMN) protein causes spinal muscular atrophy, a neurodegenerative disease characteri

39 Reduced expression of SMN causes spinal muscular atrophy, a severe neurodegenerative disease.

40 ract associated with the disease spinobulbar muscular atrophy, also known as Kennedy disease.

41 Spinal and bulbar muscular atrophy, also known as Kennedy's disease, is an

42 amyloidopathies, Parkinson's disease, spinal muscular atrophy, amyotrophic lateral sclerosis and brai

43 disease, Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myo

44 ncluding Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myo

45 such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myo

46 -Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy

47 and dystrophin, genes responsible for spinal muscular atrophy and Duchenne muscular dystrophy, respec

48 the characteristics of diseases like spinal muscular atrophy and familial dysautonomia that allowed

49 e understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting pot

50 ential in the treatment of spinal and bulbar muscular atrophy and may also be a possible approach for

51 ted neuromuscular diseases, including spinal muscular atrophy and myotonic dystrophy, where defects o

52 f amyotrophic lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy together a

53 e a therapeutic target for spinal and bulbar muscular atrophy and related polyglutamine diseases.

54 uch as amyotrophic lateral sclerosis, spinal muscular atrophy and spinobulbar muscular atrophy.

55 ase characterized by motor neuron cell loss, muscular atrophy, and a shortened life span.

56 se mechanisms for myotonic dystrophy, spinal muscular atrophy, and fragile X syndrome, with broader i

57 ic dystrophy, mitochondrial myopathy, spinal muscular atrophy, and hereditary neuropathies.

58 tions than high heel wear such as paralysis, muscular atrophy, and muscular dystrophy.

59 uch as amyotrophic lateral sclerosis, spinal muscular atrophy, and spinobulbar muscular atrophy.

60 In children, inherited spinal muscular atrophies are the predominant diseases that aff

61 use model confirmed a severe and progressive muscular atrophy associated with a reduction in muscle s

62 cts of the neurodegenerative disorder spinal muscular atrophy because of reduced levels of Survival o

63 rs characterized by progressive weakness and muscular atrophy, beginning in distal limb muscles and a

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

65 ibroblasts derived from patients with spinal muscular atrophy by using bifunctional targeted oligonuc

66 o adult care; (3) muscular dystrophy, spinal muscular atrophy, cystic fibrosis, haemophilia and sickl

67 tary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and

68 tified in patients with distal spinal bulbar muscular atrophy (dSBMA) and Perry's syndrome.

69 95% CI, 0.08-0.10; P = .049) and progressive muscular atrophy (HR, 0.17; 95% CI, 0.22-1.36; P = .10).

70 receptor, causing X-linked spinal and bulbar muscular atrophy, impairs its function as a transcriptio

71 54 subunit of GARP is responsible for spinal muscular atrophy in the wobbler mouse, an animal model o

72 Spinal muscular atrophy is a common motor neuron disease caused

73 Spinal muscular atrophy is a disorder of lower motor neurons, m

74 Spinal muscular atrophy is a fatal genetic disease of motoneuro

75 Spinal muscular atrophy is a leading genetic cause of infantile

76 damage is detected in muscle cell nuclei and muscular atrophy is accelerated when one copy of the gen

77 Spinal muscular atrophy is an autosomal recessive neuromuscular

78 Spinal muscular atrophy is an inherited motor neuron disease th

79 Spinal muscular atrophy is an untreatable potentially fatal her

80 Spinal and bulbar muscular atrophy is an X-linked degenerative motor neuro

81 Spinal and bulbar muscular atrophy is an X-linked motor neuron disease cau

82 Childhood spinal muscular atrophy is caused by a reduced expression of th

83 Spinal muscular atrophy is caused by loss of the survival motor

84 Spinal muscular atrophy is caused by the loss of the SMN1 (surv

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

86 Spinal muscular atrophy is the most common genetic killer of in

87 or (AR) causes Kennedy's disease/spinobulbar muscular atrophy (KD/SBMA) through poorly defined cellul

88 le in a number of diseases, including spinal muscular atrophy, leukemia, lymphoma, and breast cancer.

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

90 BICD2 spinal muscular atrophy, lower extremity predominant most commo

91 Spinal muscular atrophy, lower extremity-predominant, is charac

92 nd 7 women), and 4 patients with progressive muscular atrophy (mean age +/- SD, 59.2 +/- 5 y; 4 men).

93 Spinal and bulbar muscular atrophy mice that carry 100 pathogenic polyglut

94 bryonic motor neurons from spinal and bulbar muscular atrophy mice, which was accompanied by increase

95 e major gene products dysregulated in spinal muscular atrophy models in mice.

96 could account, at least in part, for spinal muscular atrophy onset and pathological specificity.

97 neurodegenerative disorder spinal and bulbar muscular atrophy or Kennedy disease is caused by a CAG t

98 ous familial hypercholesterolemia and spinal muscular atrophy) or as research tools to alter gene exp

99 role of AR proteolysis in spinal and bulbar muscular atrophy pathogenesis.

100 Spinal muscular atrophy patients account for 5.1% or 1.87/100,0

101 fect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effe

102 esolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs

103 mutant mdf, which is affected by neurogenic muscular atrophy, progressive gait ataxia with tremor, c

104 the polyglutamine disease spinal and bulbar muscular atrophy, proteolysis of the mutant androgen rec

105 rogen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA) and is associated with misfolded

106 Spinal and bulbar muscular atrophy (SBMA) impairs motor function in men an

107 Spinobulbar muscular atrophy (SBMA) is a neurodegenerative disease c

108 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease chara

109 Spinal and bulbar muscular atrophy (SBMA) is a progressive neuromuscular d

110 Spinal bulbar muscular atrophy (SBMA) is a progressive, late onset neu

111 Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular di

112 Spinobulbar muscular atrophy (SBMA) is an X-linked disease character

113 Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron diseas

114 Spinal and bulbar muscular atrophy (SBMA) is caused by polyglutamine expan

115 X-linked spinal and bulbar muscular atrophy (SBMA) is characterized by adult-onset

116 Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of moto

117 receptor (AR) is responsible for spinobulbar muscular atrophy (SBMA) that leads to selective loss of

118 Here we consider X-linked spinal and bulbar muscular atrophy (SBMA), a repeat disorder caused by pol

119 Spinal and bulbar muscular atrophy (SBMA), an adult-onset neurodegenerativ

120 rogen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disea

121 a protein associated with spinal and bulbar muscular atrophy (SBMA), and the nuclear protein PTIP (P

122 Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late

123 degeneration in individuals with spinobulbar muscular atrophy (SBMA).

124 anded AR proteotoxicity in spinal and bulbar muscular atrophy (SBMA).

125 rogen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA).

126 Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease)

127 Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis

128 s in the lethal motor neuron diseases spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis

129 SC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyel

130 ative conditions of childhood such as spinal muscular atrophy (SMA) and neuronal ceroid lipofuscinosi

131 A number of mouse models for spinal muscular atrophy (SMA) have been genetically engineered

132 dentified as a protective modifier of spinal muscular atrophy (SMA) in some patient populations and a

133 Spinal muscular atrophy (SMA) is a common (approximately 1:6400

134 Spinal muscular atrophy (SMA) is a common and often fatal neuro

135 Spinal muscular atrophy (SMA) is a common autosomal-recessive m

136 Spinal muscular atrophy (SMA) is a common neuromuscular disorde

137 Proximal spinal muscular atrophy (SMA) is a debilitating neurological di

138 The underlying cause of spinal muscular atrophy (SMA) is a deficiency of the survival m

139 Spinal muscular atrophy (SMA) is a devastating neuromuscular di

140 Feline spinal muscular atrophy (SMA) is a fully penetrant, autosomal r

141 Spinal muscular atrophy (SMA) is a genetic disease caused by mu

142 Spinal muscular atrophy (SMA) is a genetic disease characterize

143 Spinal muscular atrophy (SMA) is a genetic disorder caused by a

144 Spinal muscular atrophy (SMA) is a genetic disorder characteriz

145 Spinal muscular atrophy (SMA) is a hereditary neurodegenerative

146 Spinal muscular atrophy (SMA) is a lethal human disease charact

147 Spinal muscular atrophy (SMA) is a major inherited cause of inf

148 Spinal muscular atrophy (SMA) is a motoneuron disease caused by

149 Spinal muscular atrophy (SMA) is a motor neuron disease and the

150 Spinal muscular atrophy (SMA) is a motor neuron disease caused

151 Spinal muscular atrophy (SMA) is a motor neuron disease caused

152 Spinal muscular atrophy (SMA) is a neurodegenerative disease ca

153 Spinal muscular atrophy (SMA) is a neurodegenerative disease ca

154 Spinal muscular atrophy (SMA) is a neurodegenerative disease ca

155 Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease ca

156 Spinal muscular atrophy (SMA) is a neurodegenerative disease ca

157 Spinal muscular atrophy (SMA) is a neurodegenerative disease ch

158 Spinal muscular atrophy (SMA) is a neurodegenerative disease pr

159 Spinal muscular atrophy (SMA) is a neurological disorder charac

160 Spinal muscular atrophy (SMA) is a neuromuscular disease caused

161 Spinal muscular atrophy (SMA) is a neuromuscular disease caused

162 Spinal muscular atrophy (SMA) is a neuromuscular disease caused

163 Spinal muscular atrophy (SMA) is a neuromuscular disease caused

164 Spinal muscular atrophy (SMA) is a neuromuscular disease charac

165 Spinal muscular atrophy (SMA) is a neuromuscular disorder cause

166 Spinal Muscular Atrophy (SMA) is a neuromuscular disorder cause

167 Spinal muscular atrophy (SMA) is a pediatric neuromuscular cond

168 Spinal muscular atrophy (SMA) is a progressive motor neuron dis

169 Spinal muscular atrophy (SMA) is a progressive neurodegenerativ

170 Spinal muscular atrophy (SMA) is a progressive neurodegenerativ

171 Spinal Muscular Atrophy (SMA) is an autosomal recessive disorde

172 Spinal muscular atrophy (SMA) is an autosomal recessive disorde

173 Spinal muscular atrophy (SMA) is an autosomal recessive disorde

174 Spinal muscular atrophy (SMA) is an autosomal recessive neurode

175 Spinal muscular atrophy (SMA) is an autosomal recessive neurode

176 Spinal muscular atrophy (SMA) is an autosomal recessive neuromu

177 Spinal muscular atrophy (SMA) is an autosomal recessive neuromu

178 Spinal muscular atrophy (SMA) is an autosomal-recessive disorde

179 Spinal muscular atrophy (SMA) is an autosomal-recessive disorde

180 Spinal muscular atrophy (SMA) is an autosomal-recessive motor n

181 Spinal muscular atrophy (SMA) is an autosomal-recessive pediatr

182 Spinal muscular atrophy (SMA) is an inherited motor neuron dise

183 Spinal muscular atrophy (SMA) is an inherited motor neuron dise

184 tor neuron (MN) degenerative disease, spinal muscular atrophy (SMA) is caused by deficiency of SMN (s

185 Spinal muscular atrophy (SMA) is caused by deficiency of SMN pr

186 The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by deficient expression

187 Spinal muscular atrophy (SMA) is caused by deletions or mutatio

188 Spinal muscular atrophy (SMA) is caused by deletions or mutatio

189 Spinal muscular atrophy (SMA) is caused by depletion of the ubi

190 Spinal Muscular Atrophy (SMA) is caused by diminished Survival

191 Spinal muscular atrophy (SMA) is caused by homozygous mutations

192 Spinal muscular atrophy (SMA) is caused by homozygous survival

193 Spinal muscular atrophy (SMA) is caused by loss of the survival

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

195 The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of the su

196 Spinal muscular atrophy (SMA) is caused by mutation of the Surv

197 Spinal muscular atrophy (SMA) is caused by mutation or deletion

198 Spinal Muscular Atrophy (SMA) is caused by mutation or deletion

199 Spinal muscular atrophy (SMA) is caused by mutations in the SMN

200 Spinal muscular atrophy (SMA) is caused by reduced levels of su

201 The motor neuron disease spinal muscular atrophy (SMA) is caused by reduced levels of th

202 pproach to SMA.SIGNIFICANCE STATEMENT Spinal muscular atrophy (SMA) is caused by the loss of motor ne

203 Spinal muscular atrophy (SMA) is caused by the loss or mutation

204 Spinal muscular atrophy (SMA) is caused by the low levels of su

205 While spinal muscular atrophy (SMA) is characterized by motor neuron

206 Spinal muscular atrophy (SMA) is characterized by the selective

207 ity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of fun

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

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

210 Spinal muscular atrophy (SMA) is the leading genetic cause of i

211 Proximal spinal muscular atrophy (SMA) is the leading genetic cause of i

212 Spinal muscular atrophy (SMA) is the leading genetic cause of i

213 Spinal muscular atrophy (SMA) is the leading genetic cause of i

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

215 Proximal spinal muscular atrophy (SMA) is the most frequent cause of her

216 Spinal muscular atrophy (SMA) is the number 1 genetic killer of

217 d neuromuscular junction pathology of spinal muscular atrophy (SMA) mice.

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

219 sus Statement for Standard of Care in Spinal Muscular Atrophy (SMA) notes that patients suffer from g

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

221 Spinal muscular atrophy (SMA) presents severe muscle weakness w

222 Clinical presentation of spinal muscular atrophy (SMA) ranges from a neonatal-onset, ver

223 Spinal muscular atrophy (SMA) remains one of the most common an

224 l recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of surviv

225 Spinal muscular atrophy (SMA) results from reduced levels of th

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

227 ron 1 (SMN1) protein in humans causes Spinal Muscular Atrophy (SMA), a debilitating childhood disease

228 in the SMN1 gene are associated with spinal muscular atrophy (SMA), a devastating neurodegenerative

229 Spinal muscular atrophy (SMA), a devastating neurodegenerative

230 rons is a promising approach to treat spinal muscular atrophy (SMA), a genetic neurodegenerative dise

231 Spinal muscular atrophy (SMA), a heritable neurodegenerative di

232 (SMN2) holds the promise for cure of spinal muscular atrophy (SMA), a leading genetic cause of infan

233 xon 7, skipping of which is linked to spinal muscular atrophy (SMA), a leading genetic disease of chi

234 Spinal muscular atrophy (SMA), a leading genetic disease of chi

235 Spinal muscular atrophy (SMA), a motoneuron disease caused by a

236 uced expression of SMN protein causes spinal muscular atrophy (SMA), a neurodegenerative disorder lea

237 Spinal muscular atrophy (SMA), a recessive genetic disease, aff

238 Spinal muscular atrophy (SMA), a recessive neurodegenerative di

239 Spinal muscular atrophy (SMA), a recessive neuromuscular disord

240 ere we show that, in a mouse model of spinal muscular atrophy (SMA), a reduction in proprioceptive sy

241 evidence of IGF-1 axis alteration in spinal muscular atrophy (SMA), a very severe neurodegenerative

242 Spinal muscular atrophy (SMA), an autosomal recessive genetic d

243 val Motor Neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), an autosomal recessive neurodege

244 Spinal muscular atrophy (SMA), an autosomal recessive neuromusc

245 Spinal muscular atrophy (SMA), an inherited disease of motor ne

246 degenerative contexts including ALS, spinal muscular atrophy (SMA), and aging, fast-fatigable (FF) m

247 as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid maltase

248 motor neuron (SMN) deficiency causes spinal muscular atrophy (SMA), but the pathogenesis mechanisms

249 nt/childhood onset motoneuron disease spinal muscular atrophy (SMA), caused by low levels of the surv

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

251 fish models of the motoneuron disease spinal muscular atrophy (SMA), motor axons fail to form the nor

252 Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA), Multiple Sclerosis (MS) Heredita

253 Spinal muscular atrophy (SMA), the leading genetic cause of inf

254 Spinal muscular atrophy (SMA), the leading genetic cause of inf

255 Spinal muscular atrophy (SMA), the leading genetic disorder of

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

257 Spinal muscular atrophy (SMA), the most common autosomal recess

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

259 Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal genetic c

260 SMN) gene underlie the development of spinal muscular atrophy (SMA), which currently represents the l

261 -Gemin2 interaction is abrogated by a spinal muscular atrophy (SMA)-causing mutation in an SMN helix

262 l motor neuron-1 (SMN1) protein cause spinal muscular atrophy (SMA).

263 c mice are well-established models of spinal muscular atrophy (SMA).

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

265 ifier of the human motoneuron disease spinal muscular atrophy (SMA).

266 e result in the motor neuron disease, spinal muscular atrophy (SMA).

267 oving towards a potential therapy for spinal muscular atrophy (SMA).

268 ting childhood neuromuscular disease, spinal muscular atrophy (SMA).

269 otein cause the motor neuron disease, spinal muscular atrophy (SMA).

270 es the childhood motor neuron disease spinal muscular atrophy (SMA).

271 ring SMN to levels that could correct spinal muscular atrophy (SMA).

272 es motor function in a mouse model of spinal muscular atrophy (SMA).

273 y for neuromuscular diseases, such as spinal muscular atrophy (SMA).

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

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

276 om patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively).

277 del of the devastating human disease "spinal muscular atrophy" (SMA) was used to investigate the seve

278 Spinal muscular atrophies (SMAs) are a heterogeneous group of i

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

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

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

282 l subjects and all patients with progressive muscular atrophy tested, but not in the patients with pr

283 Using a mouse model of spinal and bulbar muscular atrophy that exhibits many of the characteristi

284 ival motor neuron (SMN) protein cause spinal muscular atrophy, the leading genetic disorder for infan

285 In progressive muscular atrophy, there is selective degeneration of ant

286 Among infants with spinal muscular atrophy, those who received nusinersen were mor

287 sclerosis and six patients with progressive muscular atrophy, together with 16 age-matched controls.

288 A therapeutic avenue for spinal muscular atrophy treatment is to promote exon 7 inclusio

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

290 MT2D from the allelic disorder distal spinal muscular atrophy type V.

291 treat Duchenne muscular dystrophy and spinal muscular atrophy, which are currently being tested in cl

292 ality control may also be relevant in spinal muscular atrophy, which is caused by defects in the surv

293 ions in cortical development (MCD) or spinal muscular atrophy with lower extremity predominance (SMAL

294 Loa) (DYNC1H1(F580Y)) mouse model for spinal muscular atrophy with lower extremity predominance and a

295 (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Char

296 distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages

297 Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PC

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

299 man motor neuron degenerative disease spinal muscular atrophy with respiratory distress type 1 (SMARD

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