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 ressive treatment shortens the course of the myasthenic crisis.

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

5 is approach may be particularly valuable for myasthenic crisis.

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

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

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

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

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

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

12 disease mechanism and a novel phenotype with myasthenic features.

13 ef summary of the congenital myopathies with myasthenic features.

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

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

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

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

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

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

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

21 Myasthenic patients who require mechanical ventilation o

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

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

24 compensation that has been observed in other myasthenic states.

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

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

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

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

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

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

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

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

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

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

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

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

37 undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

58 Lambert Eaton myasthenic syndrome and acquired neuromyotonia are cause

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

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

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

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

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

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

65 In a myasthenic syndrome associated with fatigable generalize

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

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

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

69 GMPPB congenital myasthenic syndrome cases show clinical features charact

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

71 Congenital myasthenic syndrome comprises a heterogeneous group of i

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

73 Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness wi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

122 immune neuromuscular disorder, Lambert-Eaton myasthenic syndrome.

123 ical phenotype of AChR-deficiency congenital myasthenic syndrome.

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

125 ectrophysiologically confirmed Lambert-Eaton myasthenic syndrome.

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

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

128 naptic motor axon, manifesting in congenital myasthenic syndrome.

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

130 r junction disorder resembling Lambert-Eaton myasthenic syndrome.

131 mutated in more typical forms of congenital myasthenic syndrome.

132 all cases suggesting presynaptic congenital myasthenic syndrome.

133 genes in which mutations cause a congenital myasthenic syndrome.

134 l study into developmental improvement for a myasthenic syndrome.

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

136 oimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome.

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

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

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

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

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

142 Congenital myasthenic syndromes (CMS) are inherited diseases affect

143 1 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families.

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

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

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

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

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

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

150 Congenital myasthenic syndromes (CMSs) are increasingly recognized

151 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders

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

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

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

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

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

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

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

159 Congenital myasthenic syndromes are a clinically and genetically he

160 Congenital myasthenic syndromes are a group of rare and genetically

161 Congenital myasthenic syndromes are a group of rare genetic disorde

162 Congenital myasthenic syndromes are a heterogeneous group of condit

163 Congenital myasthenic syndromes are a heterogeneous group of inheri

164 Congenital myasthenic syndromes are a heterogeneous group of inheri

165 Congenital myasthenic syndromes are a rare group of heterogeneous d

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

167 Congenital myasthenic syndromes are inherited disorders of neuromus

168 Congenital myasthenic syndromes are inherited disorders that arise

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

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

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

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

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

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

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

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

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

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

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

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

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

182 nias, malignant hyperthermia, and congenital myasthenic syndromes.

183 ction of which is associated with congenital myasthenic syndromes.

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

185 mutations found in patients with congenital myasthenic syndromes.

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

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

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

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

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