ライフサイエンスコーパス: myasthenic syndrome

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

2 immune neuromuscular disorder, Lambert-Eaton myasthenic syndrome.

3 omain of agrin that causes severe congenital myasthenic syndrome.

4 ical phenotype of AChR-deficiency congenital myasthenic syndrome.

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

6 ectrophysiologically confirmed Lambert-Eaton myasthenic syndrome.

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

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

9 uromuscular weakness caused by Lambert-Eaton myasthenic syndrome.

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

11 guide future functional studies of the CHT1 myasthenic syndrome.

12 naptic motor axon, manifesting in congenital myasthenic syndrome.

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

14 r junction disorder resembling Lambert-Eaton myasthenic syndrome.

15 mutated in more typical forms of congenital myasthenic syndrome.

16 all cases suggesting presynaptic congenital myasthenic syndrome.

17 genes in which mutations cause a congenital myasthenic syndrome.

18 l study into developmental improvement for a myasthenic syndrome.

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

20 oimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome.

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

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

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

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

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

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

27 the acetylcholine receptor cause congenital myasthenic syndromes.

28 nias, malignant hyperthermia, and congenital myasthenic syndromes.

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

30 pathogenic mechanisms underlying congenital myasthenic syndromes.

31 ction of which is associated with congenital myasthenic syndromes.

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

33 mutations found in patients with congenital myasthenic syndromes.

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

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

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

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

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

39 Lambert Eaton myasthenic syndrome and acquired neuromyotonia are cause

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

57 Congenital myasthenic syndromes are a clinically and genetically he

58 Congenital myasthenic syndromes are a group of rare and genetically

59 Congenital myasthenic syndromes are a group of rare genetic disorde

60 Congenital myasthenic syndromes are a heterogeneous group of condit

61 Congenital myasthenic syndromes are a heterogeneous group of inheri

62 Congenital myasthenic syndromes are a rare group of heterogeneous d

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

64 Congenital myasthenic syndromes are inherited disorders of neuromus

65 Congenital myasthenic syndromes are inherited disorders that arise

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

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

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

69 In a myasthenic syndrome associated with fatigable generalize

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

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

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

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

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

75 GMPPB congenital myasthenic syndrome cases show clinical features charact

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

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

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

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

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

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

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

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

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

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

86 undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

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

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

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

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

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

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

93 Congenital myasthenic syndromes (CMS) are characterized by fatigabl

94 Congenital myasthenic syndromes (CMS) are inherited diseases affect

95 1 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families.

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

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

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

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

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

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

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

103 Congenital myasthenic syndromes (CMSs) are increasingly recognized

104 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders

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

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

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

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

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

110 Congenital myasthenic syndrome comprises a heterogeneous group of i

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

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

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

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

115 Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness wi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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