ライフサイエンスコーパス: neuromuscular disorder

1 ement disorders, intellectual disability, or neuromuscular disorders).

2 henia gravis is a relatively rare autoimmune neuromuscular disorder.

3 myopathy (HIBM), an adult-onset, progressive neuromuscular disorder.

4 s a clinically and genetically heterogeneous neuromuscular disorder.

5 on mouse chromosome 6 produces a progressive neuromuscular disorder.

6 ition and pharmacologic treatment of the gut neuromuscular disorder.

7 a of patients with a clinical diagnosis of a neuromuscular disorder.

8 s with nemaline myopathy, another congenital neuromuscular disorder.

9 rly-tail phenotype, which is suggestive of a neuromuscular disorder.

10 nvariably fatal and clinically heterogeneous neuromuscular disorder.

11 t are involved in various muscle-wasting and neuromuscular disorders.

12 ions for the development of therapeutics for neuromuscular disorders.

13 ese processes might lead to gastrointestinal neuromuscular disorders.

14 l principles of synaptogenesis as well as of neuromuscular disorders.

15 omic profile and differential involvement in neuromuscular disorders.

16 ting recent developments in the treatment of neuromuscular disorders.

17 d for better understanding of myopathies and neuromuscular disorders.

18 ibute to the clinical severity of many other neuromuscular disorders.

19 as a clinical and research tool in inherited neuromuscular disorders.

20 ates, and mutations in ChAT cause congenital neuromuscular disorders.

21 lain the effectiveness of IVIG in autoimmune neuromuscular disorders.

22 ariety of human genetic and other neural and neuromuscular disorders.

23 e responses of these muscles in a variety of neuromuscular disorders.

24 for limb-girdle muscular dystrophy or other neuromuscular disorders.

25 hout underlying pulmonary, cardiac, or other neuromuscular disorders.

26 and to suggest candidate proteins for other neuromuscular disorders.

27 erapeutic agent for the treatment of various neuromuscular disorders.

28 (d) add new insights to the pathogenesis of neuromuscular disorders.

29 complex are normally expressed and in other neuromuscular disorders.

30 leviate muscle weakness and comorbidities of neuromuscular disorders.

31 ell as the complexity of the pathogenesis of neuromuscular disorders.

32 ternal device to assist patients with severe neuromuscular disorders.

33 cement and disease activity in patients with neuromuscular disorders.

34 apse assembly and pathological mechanisms of neuromuscular disorders.

35 the same spectrum of truly "organic" gastric neuromuscular disorders.

36 es that can be also tentatively connected to neuromuscular disorders.

37 yed to diagnose single gene neurological and neuromuscular disorders.

38 and assay may not be obvious for pleiotropic neuromuscular disorders.

39 ronic diseases, inflammatory myopathies, and neuromuscular disorders.

40 ing has significant potential for therapy of neuromuscular disorders.

41 monitor muscle involvement in FSHD and other neuromuscular disorders.

42 otrophic lateral sclerosis (ALS) and related neuromuscular disorders.

43 genes now identified as underlying causes of neuromuscular disorders.

44 eutic efficacy in patients with DMD or other neuromuscular disorders.

45 proving diagnostics and treatment of various neuromuscular disorders.

46 come measure in patients and mouse models of neuromuscular disorders.

47 iological variable in the pathophysiology of neuromuscular disorders.

48 nal layer of regulation of genes relevant to neuromuscular disorders.

49 r development, regulation and involvement in neuromuscular disorders.

50 tly recognized and may mimic a wide range of neuromuscular disorders.

51 lowing training or during the progression of neuromuscular disorders.

52 ffect of interventions or the progression of neuromuscular disorders.

53 chondrial fusion and mitofusin-related human neuromuscular disorders.

54 e for dysfunctional respiratory complex I in neuromuscular disorders.

55 veals COL15A1 as a candidate gene for orphan neuromuscular disorders.

56 as revealed two sigma-1R mutants involved in neuromuscular disorders.

57 ntenance in adulthood result in debilitating neuromuscular disorders.

58 s potentially applicable to a broad range of neuromuscular disorders.

59 of experimental therapies for DMD and other neuromuscular disorders.

60 based drugs have entered clinical trials for neuromuscular disorders.

61 ges is activated in some forms of congenital neuromuscular disorders.

62 of therapeutics to combat muscle wasting and neuromuscular disorders.

63 ber of causal genes identified for inherited neuromuscular disorders.

64 er autoantibodies against muscle Ags nor any neuromuscular disorders.

65 e that may be relevant to pathophysiology of neuromuscular disorders.

66 larging the NMJ may be useful for a range of neuromuscular disorders.

67 ed to advance the diagnosis and treatment of neuromuscular disorders.

68 ple framework for diagnosing and classifying neuromuscular disorders acquired in critical illness.

69 Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous

70 xin (SETX) gene causes an autosomal dominant neuromuscular disorder, amyotrophic lateral sclerosis 4

71 the uses of botulinum toxin in muscular and neuromuscular disorders, analysing its efficacy, safety

72 model may explain why LES is expressed as a neuromuscular disorder and can account for a clinical ha

73 mitter inhibitors that are used for treating neuromuscular disorders and are classified as essential

74 ic strategies to treat matriglycan-deficient neuromuscular disorders and arenaviral infections.

75 creasingly recognized manifestation of these neuromuscular disorders and contribute significantly to

76 associate with a wide range of skeletal and neuromuscular disorders and the most common types of sol

77 ative tool for the specialists in paediatric neuromuscular disorders and will continue to deliver imp

78 had malformation syndromes, 7.5% (n=64) had neuromuscular disorders, and 74.2% (n=634) had idiopathi

79 lopment, how these pathways are disrupted in neuromuscular disorders, and advances in RNA-mediated th

80 cent findings in NMJ formation, maintenance, neuromuscular disorders, and aging of the NMJ, focusing

81 n's Hospital of Philadelphia Infant Test for Neuromuscular Disorders, and Alberta Infant Motor Score)

82 s the divisions of Neuro-Movement Disorders, Neuromuscular Disorders, and Behavioral and Cognitive Ne

83 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders, and respiratory and nutritional

84 ipheral nerve injury, demyelinating disease, neuromuscular disorders, and seizures.

85 disease (aOR, 1.46, 95% CI, 1.12-1.89), and neuromuscular disorder (aOR, 1.68; 95% CI, 1.11-2.52).An

86 disease (aOR, 5.23; 95% CI, 1.74-15.69), and neuromuscular disorder (aOR, 4.84; 95% CI, 2.02-11.58) w

87 in dermatomyositis, polymyositis, and other neuromuscular disorders appeared to be rare (4.2%, 4.5%,

88 The neuromuscular disorders are associated with diminished c

89 Neuromuscular disorders are common causes of weakness an

90 Neuromuscular disorders are often caused by heterogeneou

91 A sequencing (RNA-seq), by using monogenetic neuromuscular disorders as proof of principle.

92 nic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG)(n) expans

93 trophy type 1 (DM1) is an autosomal dominant neuromuscular disorder associated with a (CUG)n expansio

94 uscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extr

95 Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or chi

96 Myotonic dystrophy (DM) is a neuromuscular disorder associated with CTG triplet repea

97 Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion mut

98 When applied to model mice of another neuromuscular disorder, autosomal dominant Emery-Dreifus

99 uchenne muscular dystrophy (DMD) gene causes neuromuscular disorders, but increasing evidence has imp

100 dies were found in myositis as well as other neuromuscular disorders, but not in healthy controls.

101 Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG expansion in the

102 n (approximately 1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the surviv

103 lbar muscular atrophy (SBMA) is an inherited neuromuscular disorder caused by a polyglutamine (polyQ)

104 yotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by a trinucleotide (CTG) r

105 Slow-channel syndrome (SCS) is a progressive neuromuscular disorder caused by abnormal gating of muta

106 tonic dystrophy type 1 (DM1) is an incurable neuromuscular disorder caused by an expanded CTG repeat

107 lbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucleotide expan

108 l muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetit

109 Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid a-gl

110 Pompe disease (PD) is a severe neuromuscular disorder caused by deficiency of the lysos

111 uchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by DMD gene mutations, lea

112 spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder caused by expansion of a CAG repe

113 Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutation or

114 muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of

115 Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of

116 uchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin.

117 ar atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survi

118 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd ge

119 uchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystro

120 GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by mutations in the GNE ge

121 ular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the surviv

122 ne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-link

123 Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by reduced levels of the s

124 chenne muscular dystrophy (DMD) is a genetic neuromuscular disorder caused by the absence of dystroph

125 Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by the reduction of surviv

126 Marie-Tooth (CMT) neuropathies are inherited neuromuscular disorders caused by a length-dependent neu

127 Neuromuscular disorders caused by dysfunction of the mit

128 integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centr

129 capulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious ons

130 yotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by degeneration of

131 inal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal c

132 lbar muscular atrophy (SBMA) is an inherited neuromuscular disorder characterized by lower motor neur

133 Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness

134 meral muscular dystrophy (FSHD) is a genetic neuromuscular disorder characterized by progressive musc

135 yotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by progressive weak

136 ophy type 1 (DM1) is a complex life-limiting neuromuscular disorder characterized by severe skeletal

137 Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by the degeneration

138 yopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of

139 y (MMD) is an autosomal-dominant multisystem neuromuscular disorder characterized by unstable nucleot

140 , is used for treatment of a myriad of human neuromuscular disorders characterized by involuntary mus

141 thies (HMN) were first defined as a group of neuromuscular disorders characterized by lower motor neu

142 nia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffnes

143 neal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the

144 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmit

145 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) motor function tes

146 Neuromuscular disorders comprise a diverse group of huma

147 multifactorial, multisystem pro-inflammatory neuromuscular disorder compromising muscle function resu

148 ilitation after spinal cord injury and other neuromuscular disorders compromising breathing.

149 Accurate diagnosis of specific neuromuscular disorders depends first on identification

150 Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cor

151 very 4 weeks plus tremelimumab 1 mg/kg), and neuromuscular disorder (durvalumab 20 mg/kg every 4 week

152 had fragmented care; 37.5% of 359 unplanned neuromuscular disorder emergency admissions were identif

153 tant recapitulates key features of the human neuromuscular disorders enabling detailed in vivo studie

154 s, such as monitoring disease progression in neuromuscular disorders, evaluating treatment efficacy,

155 The neuromuscular disorder facioscapulohumeral muscular dyst

156 ic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment

157 Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available t

158 Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment.

159 iant class could have importance beyond rare neuromuscular disorders, given an increasing body of evi

160 how the identification of genes involved in neuromuscular disorders has led to the characterization

161 udies of single gene replacement therapy for neuromuscular disorders have shown they can slow or stop

162 etagammadelta nAChRs, of use in treatment of neuromuscular disorders, have been hard to identify.

163 in clinical AAV gene therapy, including for neuromuscular disorders, hemophilia, primary cardiovascu

164 dystrophy (DM1) is the most common inherited neuromuscular disorder in adults and is considered the f

165 Spinal muscular atrophy (SMA) is a common neuromuscular disorder in humans.

166 ter stages of several primary neurologic and neuromuscular disorders in a manner unique to each disea

167 chondria, a condition linked to debilitating neuromuscular disorders in humans.

168 ide repeats produce several neurological and neuromuscular disorders including Huntington disease, mu

169 recent advances in the treatment of various neuromuscular disorders including neuropathies, neuromus

170 n used successfully for treatment of several neuromuscular disorders, including blepharospasm, dyston

171 icits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic

172 In human and animal trials for neuromuscular disorders, inconsistent electrode position

173 AG-repeat expansion disorder, is an X-linked neuromuscular disorder involving CAG-repeat-expansion mu

174 of cell-based therapies for the treatment of neuromuscular disorders is obtaining the appropriate num

175 nt to progress in trials of new therapies in neuromuscular disorders is the absence of responsive out

176 Pompe disease, a rare genetic neuromuscular disorder, is caused by a deficiency of aci

177 Spinal muscular atrophy (SMA), a recessive neuromuscular disorder, is caused by diminished function

178 is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs

179 ogical conditions observed in the autoimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome

180 defects previously observed in an autoimmune neuromuscular disorder, Lambert-Eaton myasthenic syndrom

181 6-phosphate transaminase 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic

182 y (FSHD) is an autosomal dominant hereditary neuromuscular disorder linked to the deletion of an inte

183 vel therapeutic reagent for the treatment of neuromuscular disorders linked to Wnt-MuSK signaling pat

184 ociated with the onset of myasthenia, common neuromuscular disorders mainly characterized by fatigabl

185 Spinal muscular atrophy is a neuromuscular disorder manifesting as weakness and hypot

186 oth (CMT) disease, the most common inherited neuromuscular disorder, manifests as progressive muscle

187 lly, histologically and genetically variable neuromuscular disorders many of which are caused by muta

188 In ALS, a fatal neuromuscular disorder marked by progressive death of lo

189 ac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diag

190 atic weakness is a main element, but in many neuromuscular disorders mechanical upper airway obstruct

191 backgrounds, the pathomechanisms underlying neuromuscular disorders might be attributed to the compl

192 Several neurological diseases-including neuromuscular disorders, movement disorders, migraine, a

193 f the first genetic lesion associated with a neuromuscular disorder - mutations in dystrophin as an u

194 eins emphasize the role of these proteins in neuromuscular disorders; mutations have been found in th

195 ein kinase, induces the dominantly inherited neuromuscular disorder myotonic dystrophy (DM).

196 s of the myotubularin family cause the human neuromuscular disorders myotubular myopathy and type 4B

197 ave been previously implicated in peripheral neuromuscular disorders (NMD) and neurodevelopmental dis

198 Neuromuscular disorders (NMDs) are a wide-ranging group

199 RPOSE OF REVIEW: The heterogeneous nature of neuromuscular disorders (NMDs) continues to promote slow

200 ingly proposed in clinical trials related to neuromuscular disorders (NMDs).

201 ar myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabol

202 Our understanding of the neuromuscular disorders of childhood has been rapidly ex

203 his review provides an overview of the major neuromuscular disorders of childhood with attention to r

204 ture therapy for patients with DMD and other neuromuscular disorders or with other diseases that are

205 s of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcr

206 rrespective of the primary molecular defect, neuromuscular disorder pathological processes include di

207 t audit of unplanned hospital admissions for neuromuscular disorder patients has substantiated data f

208 United Kingdom and Netherlands indicate that neuromuscular disorder patients report their services to

209 The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy

210 Many neuromuscular disorders require complex multisystem mana

211 Management of gastric neuromuscular disorders requires an understanding of pat

212 rophy type 1 (DM1) is a dominantly inherited neuromuscular disorder resulting from expression of RNA

213 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) scale of motor function (rangin

214 ith multiple mtDNA deletions (MIM 606075), a neuromuscular disorder sharing a spectrum of symptoms wi

215 NBS in these neuromuscular disorders should be implemented, utilizing

216 TnT levels in Pompe disease and likely other neuromuscular disorders should be interpreted with cauti

217 radation in cellular and mouse models of the neuromuscular disorder spinal bulbar muscular atrophy.

218 The neuromuscular disorder spinal muscular atrophy (SMA), th

219 We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA];

220 Defects in SMN function lead to a human neuromuscular disorder, spinal muscular atrophy (SMA).

221 nsfer may be useful for treatment of serious neuromuscular disorders such as Duchenne muscular dystro

222 As clinical evaluations of neuromuscular disorders such as hypertonia mostly rely o

223 capacity in ALS.SIGNIFICANCE STATEMENT Since neuromuscular disorders, such as amyotrophic lateral scl

224 Congenital neuromuscular disorders, such as Duchenne muscular dystr

225 c neurotransmission and may underlie several neuromuscular disorders, such as hyperekplexia, myoclonu

226 Specific characteristics of neuromuscular disorders, such as pharyngeal neuropathy o

227 Patients with neuromuscular disorders suffer from a lack of treatment

228 d splicing has also been identified in other neuromuscular disorders, suggesting either that diseases

229 am effectors are a major cause of a group of neuromuscular disorders, termed congenital myasthenic sy

230 uscular dystrophy (DMD) is a severe X-linked neuromuscular disorder that affects males.

231 l muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient

232 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme

233 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is not due to a classical mu

234 SMA is an autosomal recessive neuromuscular disorder that results from the loss of the

235 ment of genetic therapies to treat inherited neuromuscular disorders that affect both children and ad

236 The subset of neuromuscular disorders that affect skeletal muscle are

237 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders that can be caused by defects in

238 ular dystrophies (MD) are a group of genetic neuromuscular disorders that cause progressive weakness

239 s to restore motor function in patients with neuromuscular disorders that compromise movement.

240 ance as we develop therapies to treat severe neuromuscular disorders that compromise somatic motor be

241 significant and perhaps increasing subset of neuromuscular disorders that face the clinician.

242 protein isoforms, applications ranging from neuromuscular disorders to cancer.

243 nic splice variants in diseases ranging from neuromuscular disorders to diabetes or cardiomyopathies.

244 rves as an effective therapeutic for several neuromuscular disorders via induction of temporary muscu

245 In pathologically distinct neuromuscular disorders, we aimed to determine the compa

246 As yet, there is no cure for this neuromuscular disorder which affects the lower motor neu

247 uloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakn

248 tal muscles is a common feature of different neuromuscular disorders, which fall outside the mitochon

249 Ds) are a heterogeneous group of genetic and neuromuscular disorders, which result in severe loss of

250 In SMA, a neuromuscular disorder with an often fatal outcome until

251 LP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and mu

252 in nerve-muscle signaling cause a variety of neuromuscular disorders with features of ataxia, paralys

253 disease (CMT) is the most common peripheral neuromuscular disorder worldwide.