ライフサイエンスコーパス: myasthenic

1 containing an immunoglobulin-like domain are myasthenic.

2 ery, raising the likelihood of unappreciated myasthenic cases that benefit from the gamma-epsilon swi

3 is approach may be particularly valuable for myasthenic crisis.

4 ressive treatment shortens the course of the myasthenic crisis.

5 or these recombinant Fabs in patients with a myasthenic crisis.

6 e of which had a fatal outcome (nipocalimab: myasthenic crisis; placebo: cardiac arrest and myocardia

7 We tracked the cause of the myasthenic disorder in a female with onset of first symp

8 Our results therefore delineate a myasthenic disorder that is caused by loss-of-function m

9 s reversed by edrophonium, consistent with a myasthenic disorder.

10 ointing to potential therapeutic benefit for myasthenic disorders involving calcium channel dysfuncti

11 phthalmoplegia or facial weakness, and links myasthenic disorders with dystroglycanopathies.

12 Typical myasthenic features such as pyridostigmine and 3, 4- dia

13 disease mechanism and a novel phenotype with myasthenic features.

14 ef summary of the congenital myopathies with myasthenic features.

15 that CMS can occur in the absence of classic myasthenic manifestations such as ptosis and ophthalmopl

16 muscular junctions upon sympathectomy and in myasthenic mice were rescued by sympathicomimetic treatm

17 nt improved weight gain and survival in DOK7 myasthenic mice.

18 e and facilities; (6) newborn babies born to myasthenic mothers are at risk of transient myasthenic w

19 lent anti-MuSK IgG4s caused rapid and severe myasthenic muscle weakness, whereas the same antibodies

20 euromuscular junction is the site of several myasthenic (mys, muscle; aesthenia, weakness) disorders

21 tensity of respiratory therapy in the severe myasthenic patient with mechanical ventilatory compromis

22 ggressiveness of respiratory intervention in myasthenic patients admitted to the neuro-critical care

23 sive respiratory treatment should be used in myasthenic patients in crisis to diminish the risk for p

24 ng mechanism of beta2-adrenergic agonists in myasthenic patients is not fully understood.

25 Myasthenic patients who require mechanical ventilation o

26 We treated three myasthenic patients, for whom treatment with thymectomy,

27 nsfer of both IgA clones into mice induced a myasthenic phenotype characterized by progressive weight

28 In myasthenic rats, selective inhibition of AChE is more ef

29 compensation that has been observed in other myasthenic states.

30 of any potential pregnancy to allow time for myasthenic status and drug optimisation; (2) multidiscip

31 tor delta-subunit from a patient with severe myasthenic symptoms since birth: a novel deltaD140N muta

32 alpha subunit (AChRalpha) in a patient with myasthenic symptoms since birth: a V188M mutation in the

33 voluntary muscle twitching in the absence of myasthenic symptoms, electrophysiologically confirmed to

34 Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreport

35 P4 in adulthood alone is sufficient to cause myasthenic symptoms.

36 We describe a highly disabling congenital myasthenic syndrome (CMS) associated with rapidly decayi

37 een shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with small simplifi

38 A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has

39 We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutatio

40 Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle

41 Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has

42 Congenital myasthenic syndrome (CMS) is a heterogeneous condition a

43 enile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS) was 0.12 and 0.23 per 100 000,

44 fining the functional defect in a congenital myasthenic syndrome (CMS), we show that the third transm

45 undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

46 udying mutant genes implicated in congenital myasthenic syndrome (CMS).

47 metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1),

48 ll-cell lung cancer, including Lambert-Eaton myasthenic syndrome (LEMS) and paraneoplastic cerebellar

49 Myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) are autoimmune disorders affe

50 Lambert-Eaton myasthenic syndrome (LEMS) is a paraneoplastic disorder

51 Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease that

52 Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder in

53 e present in 18 of 23 (78%) of Lambert-Eaton myasthenic syndrome (LEMS) patients evaluated at the Lah

54 To evaluate the Dutch-English Lambert-Eaton Myasthenic Syndrome (LEMS) Tumour Association Prediction

55 In Lambert-Eaton myasthenic syndrome (LEMS), SOX antibodies help distingu

56 cle weakness in the autoimmune Lambert-Eaton myasthenic syndrome (LEMS).

57 ms characterize the autoimmune Lambert-Eaton myasthenic syndrome (LEMS).

58 euromuscular disorder limb-girdle congenital myasthenic syndrome (LG-CMS).

59 a simplex (EBS)-muscular dystrophy (MS) with myasthenic syndrome (MyS).

60 Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromu

61 The slow-channel congenital myasthenic syndrome (SCCMS) is a dominantly inherited di

62 The slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain of functio

63 perekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of

64 these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and

65 The slow-channel myasthenic syndrome (SCS) is a hereditary disorder of th

66 cholinesterase toxicity and the slow-channel myasthenic syndrome (SCS), IP(3)R(1) knockdown eliminate

67 Thus, slow-channel congenital myasthenic syndrome AChRs at the neuromuscular junction

68 ed an autoimmune basis for the Lambert Eaton myasthenic syndrome and 'seronegative' myasthenia.

69 Lambert Eaton myasthenic syndrome and acquired neuromyotonia are cause

70 assive transfer mouse model of Lambert-Eaton myasthenic syndrome and have shown that weakened Lambert

71 ciency is the most common form of congenital myasthenic syndrome and in most cases results from mutat

72 t in several patients with the Lambert-Eaton myasthenic syndrome and myasthenia gravis but had a vari

73 euromuscular disorders, including congenital myasthenic syndrome and myasthenia gravis.

74 Some syndromes such as Lambert-Eaton myasthenic syndrome and neuromyotonia are clearly mediat

75 sights into the physiological basis of human myasthenic syndrome and reveal the first demonstration o

76 positive myasthenia gravis and Lambert-Eaton myasthenic syndrome are about 20 times less common.

77 Myasthenia gravis and Lambert-Eaton myasthenic syndrome are antibody-mediated autoimmune dis

78 ourse of myasthenia gravis and Lambert-Eaton myasthenic syndrome are needed.

79 In a myasthenic syndrome associated with fatigable generalize

80 rt that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently fatal epi

81 We describe a congenital myasthenic syndrome associated with severe end-plate (EP

82 lpha1Leu251Arg) in a patient with congenital myasthenic syndrome associated with transformation of th

83 ion-specific proteins for further congenital myasthenic syndrome candidate genes.

84 GMPPB congenital myasthenic syndrome cases show clinical features charact

85 genetic and kinetic defects in a congenital myasthenic syndrome caused by heteroallelic mutations of

86 Congenital myasthenic syndrome comprises a heterogeneous group of i

87 ical features similar to those of congenital myasthenic syndrome due to GFPT1 mutations, and their di

88 Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness wi

89 gh 1 developed a fatal case of Lambert Eaton myasthenic syndrome following ICI treatment.

90 However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic feature

91 without clinically identified Lambert-Eaton myasthenic syndrome had P/Q-type voltage-gated calcium c

92 targeted by antibodies in the Lambert-Eaton myasthenic syndrome has been identified, and there is fu

93 Lambert-Eaton myasthenic syndrome IgG did not selectively target one "

94 Incubation of cells with Lambert-Eaton myasthenic syndrome IgG for 24 to 48 hours removed up to

95 m the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to sev

96 ciency is a recessively inherited congenital myasthenic syndrome in which fatigable muscle weakness r

97 Rapsyn-deficient myasthenic syndrome is characterized by a weakness in vo

98 One form of congenital myasthenic syndrome is due to a reduction of the number

99 l recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence o

100 The main consequence of the congenital myasthenic syndrome mutation epsilonProD2-L was to impai

101 and receptors that contain the slow channel myasthenic syndrome mutation, epsilonL221F.

102 ation, as with other slow-channel congenital myasthenic syndrome mutations, causes delayed closure of

103 n the therapy for the neuromuscular diseases myasthenic syndrome of Lambert-Eaton and botulism.

104 Survivors may develop a severe myasthenic syndrome or paralysis, associated with increa

105 psilon subunit, observed in seven congenital myasthenic syndrome patients, enhances expression of an

106 he RAPSN promoter region in eight congenital myasthenic syndrome patients.

107 hR) epsilon subunit gene in three congenital myasthenic syndrome patients.

108 aracterized in three slow-channel congenital myasthenic syndrome patients.

109 a novel form of the slow-channel congenital myasthenic syndrome presenting in infancy in a single in

110 n autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phe

111 uch as sensory neuronopathy or Lambert-Eaton myasthenic syndrome rarely occur in lymphomas, whereas o

112 inical features characteristic of congenital myasthenic syndrome subtypes that are due to defective g

113 lar degeneration, but improved Lambert-Eaton myasthenic syndrome symptoms.

114 ents with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis unde

115 We traced the cause of a slow-channel myasthenic syndrome to a C418W mutation in the M4 domain

116 pitulate major muscle findings of congenital myasthenic syndrome type 19 and serve as a disease model

117 synaptic basal lamina-associated congenital myasthenic syndrome type 19.

118 and ALG2 mutations as a cause of congenital myasthenic syndrome underscores the importance of aspara

119 ses from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle a

120 tions present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficult

121 We describe a severe postsynaptic congenital myasthenic syndrome with marked endplate acetylcholine r

122 be associated with thymoma and Lambert-Eaton myasthenic syndrome with small-cell lung cancer.

123 spinocerebellar ataxia 6, and Lambert-Eaton myasthenic syndrome), and the skeletal muscle ryanodine

124 alitis, 3 cerebellar ataxia, 2 Lambert-Eaton myasthenic syndrome, 1 autonomic neuropathy, and 1 motor

125 One patient had a congenital myasthenic syndrome, and 2 had microdeletions.

126 associated with the slow-channel congenital myasthenic syndrome, and acetylcholine receptor numbers

127 ldenstrom's macroglobulinemia, Lambert-Eaton myasthenic syndrome, and multifocal motor neuropathy.

128 , MuSK, and LRP4 in patients with congenital myasthenic syndrome, and patients with myasthenia gravis

129 Some disorders, such as the Lambert-Eaton myasthenic syndrome, are effectively treated by removal

130 deficiency (CEAD), the cause of a disabling myasthenic syndrome, arises from defects in the COLQ gen

131 In a disabling congenital myasthenic syndrome, EP AChE deficiency (EAD), the norma

132 MuSK antibodies, and to a type of congenital myasthenic syndrome, in which acetylcholine receptor def

133 ndrome, neurofibromatosis type 1, congenital myasthenic syndrome, oculopharyngeal muscular dystrophy,

134 e other mutations in slow-channel congenital myasthenic syndrome, this mutation also causes delayed o

135 uctance as an underlying cause of congenital myasthenic syndrome, with the 'low conductance' phenotyp

136 e and have shown that weakened Lambert-Eaton myasthenic syndrome-model neuromuscular synapses are sig

137 oimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome.

138 e genetic basis for many forms of congenital myasthenic syndrome.

139 ficiency, the most common form of congenital myasthenic syndrome.

140 h as diabetes mellitus and the Lambert-Eaton myasthenic syndrome.

141 is known to cause a congenital slow channel myasthenic syndrome.

142 eristic of the human slow-channel congenital myasthenic syndrome.

143 ated in a subset of patients with congenital myasthenic syndrome.

144 ositis, myasthenia gravis, and Lambert-Eaton myasthenic syndrome.

145 immune neuromuscular disorder, Lambert-Eaton myasthenic syndrome.

146 omain of agrin that causes severe congenital myasthenic syndrome.

147 ical phenotype of AChR-deficiency congenital myasthenic syndrome.

148 occurs in association with the Lambert-Eaton myasthenic syndrome.

149 ectrophysiologically confirmed Lambert-Eaton myasthenic syndrome.

150 kinetic defect in a slow-channel congenital myasthenic syndrome.

151 acetylcholine receptor (AChR) that causes a myasthenic syndrome.

152 uromuscular weakness caused by Lambert-Eaton myasthenic syndrome.

153 survivors develop a severe, acute or delayed myasthenic syndrome.

154 guide future functional studies of the CHT1 myasthenic syndrome.

155 naptic motor axon, manifesting in congenital myasthenic syndrome.

156 ene, GMPPB, where mutations cause congenital myasthenic syndrome.

157 r junction disorder resembling Lambert-Eaton myasthenic syndrome.

158 mutated in more typical forms of congenital myasthenic syndrome.

159 all cases suggesting presynaptic congenital myasthenic syndrome.

160 genes in which mutations cause a congenital myasthenic syndrome.

161 l study into developmental improvement for a myasthenic syndrome.

162 a gene in which mutations cause a congenital myasthenic syndrome.

163 The congenital myasthenic syndromes (CMS) are a diverse group of geneti

164 Congenital myasthenic syndromes (CMS) are a group of heterogeneous

165 Congenital myasthenic syndromes (CMS) are a group of inherited dise

166 Congenital myasthenic syndromes (CMS) are a rare group of inherited

167 Many congenital myasthenic syndromes (CMS) are associated with mutations

168 Congenital myasthenic syndromes (CMS) are characterized by fatigabl

169 Congenital myasthenic syndromes (CMS) are inherited diseases affect

170 1 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families.

171 ive genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority

172 rarer genetic conditions, called congenital myasthenic syndromes (CMS), that often present at birth.

173 f neuromuscular disorders, termed congenital myasthenic syndromes (CMS).

174 iciency is the most common of the congenital myasthenic syndromes (CMS).

175 n some patients with slow-channel congenital myasthenic syndromes (CMS).

176 Congenital myasthenic syndromes (CMSs) are a group of inherited dis

177 Congenital myasthenic syndromes (CMSs) are a heterogeneous group of

178 Congenital myasthenic syndromes (CMSs) are increasingly recognized

179 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders

180 Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of

181 Congenital myasthenic syndromes (CMSs) stem from genetic defects in

182 heral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and geneticall

183 ype of the inherited NMJ disorder congenital myasthenic syndromes (CMSs), whereas complete loss of Do

184 ns is compromised by mutations of congenital myasthenic syndromes (CMSs).

185 samples from eight patients with congenital myasthenic syndromes affecting primarily proximal limb m

186 In both congenital myasthenic syndromes and distal myopathies, a significan

187 an important cause of presynaptic congenital myasthenic syndromes and link them with hereditary motor

188 Congenital myasthenic syndromes are a clinically and genetically he

189 Congenital myasthenic syndromes are a group of rare and genetically

190 Congenital myasthenic syndromes are a group of rare genetic disorde

191 Congenital myasthenic syndromes are a heterogeneous group of condit

192 Congenital myasthenic syndromes are a heterogeneous group of inheri

193 Congenital myasthenic syndromes are a rare group of heterogeneous d

194 s (AChRs) that cause slow-channel congenital myasthenic syndromes are activated by serum and that the

195 Congenital myasthenic syndromes are inherited disorders of neuromus

196 Congenital myasthenic syndromes are inherited disorders that arise

197 r findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an

198 We trace the cause of congenital myasthenic syndromes in two patients to mutations in the

199 s pathway will be associated with congenital myasthenic syndromes or impaired neuromuscular transmiss

200 overactivity that occurs in the slow-channel myasthenic syndromes or in endplate ACh esterase deficie

201 s suggest that some patients with congenital myasthenic syndromes respond favorably to ephedrine, pse

202 neuron function may also be at play in other myasthenic syndromes that have been mapped to mutations

203 a larger subgroup comprising the congenital myasthenic syndromes that result from defects in the N-l

204 cy is the most common form of the congenital myasthenic syndromes, a heterogeneous collection of gene

205 or neuron diseases, peripheral neuropathies, myasthenic syndromes, and myopathies, including malignan

206 euromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations i

207 tion uncovered through studies in congenital myasthenic syndromes, autoimmune disorders, and advanced

208 ndent fatigue accompanies many neuromuscular myasthenic syndromes, including muscle rapsyn deficiency

209 iety of severe pathologies such as epilepsy, myasthenic syndromes, schizophrenia, Parkinson disease,

210 As with other myasthenic syndromes, the general muscle weakness is als

211 ction nAChR mutants associated to congenital myasthenic syndromes, which could be important in the pr

212 the acetylcholine receptor cause congenital myasthenic syndromes.

213 mutations found in patients with congenital myasthenic syndromes.

214 nias, malignant hyperthermia, and congenital myasthenic syndromes.

215 psoclonus-myoclonus ataxia and Lambert-Eaton myasthenic syndromes.

216 pathogenic mechanisms underlying congenital myasthenic syndromes.

217 ction of which is associated with congenital myasthenic syndromes.

218 on, in particular many subsets of congenital myasthenic syndromes.

219 d actively encouraged; (5) those with severe myasthenic weakness need careful, multidisciplinary mana

220 myasthenic mothers are at risk of transient myasthenic weakness, even if the mother's myasthenia is

221 ment well and have had marked improvement in myasthenic weakness, permitting reduction of immunosuppr

222 nts with an inherited limb-girdle pattern of myasthenic weakness.

223 als with an inherited limb-girdle pattern of myasthenic weakness.