ライフサイエンスコーパス: myasthenic syndrome

1 ical phenotype of AChR-deficiency congenital myasthenic syndrome.

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

3 ectrophysiologically confirmed Lambert-Eaton myasthenic syndrome.

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

5 naptic motor axon, manifesting in congenital myasthenic syndrome.

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

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

8 r junction disorder resembling Lambert-Eaton myasthenic syndrome.

9 mutated in more typical forms of congenital myasthenic syndrome.

10 all cases suggesting presynaptic congenital myasthenic syndrome.

11 genes in which mutations cause a congenital myasthenic syndrome.

12 l study into developmental improvement for a myasthenic syndrome.

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

14 oimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome.

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

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

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

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

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

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

21 immune neuromuscular disorder, Lambert-Eaton myasthenic syndrome.

22 ction of which is associated with congenital myasthenic syndromes.

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

24 mutations found in patients with congenital myasthenic syndromes.

25 nias, malignant hyperthermia, and congenital myasthenic syndromes.

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

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

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

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

30 Lambert Eaton myasthenic syndrome and acquired neuromyotonia are cause

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

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

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

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

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

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

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

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

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

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

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

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

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

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

45 Congenital myasthenic syndromes are a clinically and genetically he

46 Congenital myasthenic syndromes are a group of rare and genetically

47 Congenital myasthenic syndromes are a group of rare genetic disorde

48 Congenital myasthenic syndromes are a heterogeneous group of condit

49 Congenital myasthenic syndromes are a heterogeneous group of inheri

50 Congenital myasthenic syndromes are a heterogeneous group of inheri

51 Congenital myasthenic syndromes are a rare group of heterogeneous d

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

53 Congenital myasthenic syndromes are inherited disorders of neuromus

54 Congenital myasthenic syndromes are inherited disorders that arise

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

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

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

58 In a myasthenic syndrome associated with fatigable generalize

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

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

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

62 GMPPB congenital myasthenic syndrome cases show clinical features charact

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

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

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

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

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

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

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

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

71 undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

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

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

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

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

76 Congenital myasthenic syndromes (CMS) are inherited diseases affect

77 1 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six families.

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

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

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

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

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

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

84 Congenital myasthenic syndromes (CMSs) are increasingly recognized

85 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders

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

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

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

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

90 Congenital myasthenic syndrome comprises a heterogeneous group of i

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

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

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

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

95 Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness wi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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