ライフサイエンスコーパス: tooth disease

1 sible therapeutic strategy for Charcot-Marie-Tooth disease.

2 e of the peripheral neuropathy Charcot-Marie-Tooth disease.

3 in family members affected by Charcot-Marie-Tooth disease.

4 ic diagnosis in a patient with Charcot-Marie-Tooth disease.

5 linating neuropathies, such as Charcot-Marie-Tooth disease.

6 of the human disorder X-linked Charcot-Marie-Tooth disease.

7 es for the most common form of Charcot-Marie-Tooth disease.

8 es collectively referred to as Charcot-Marie-Tooth disease.

9 opathy or severe demyelinating Charcot-Marie-Tooth disease.

10 ith autosomal recessive axonal Charcot-Marie-Tooth disease.

11 ing autosomal recessive axonal Charcot-Marie-Tooth disease.

12 nd sensory neuropathies called Charcot-Marie-Tooth disease.

13 sies or demyelinating forms of Charcot-Marie-Tooth disease.

14 posita and her mother also had Charcot-Marie-Tooth disease.

15 ns in the GDAP1 gene can cause Charcot-Marie-Tooth disease.

16 ients had no family history of Charcot-Marie-Tooth disease.

17 eurodegenerative diseases like Charcot-Marie-Tooth disease.

18 gmental glomerulosclerosis and Charcot-Marie-Tooth disease.

19 els of diabetic neuropathy and Charcot-Marie-Tooth diseases.

20 study of patients with either Charcot-Marie-Tooth disease 1A or inclusion body myositis who were att

21 we recruited 20 patients with Charcot-Marie-Tooth disease 1A, 20 patients with inclusion body myosit

22 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%, 1.3-4.0, p=0.

23 2 duplication was required for Charcot-Marie-Tooth disease 1A, and classification as pathologically o

24 in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome (YVS).

25 dromic sensorineural deafness, Charcot-Marie-Tooth disease-5, and Arts Syndrome.

26 ng protein, result in X-linked Charcot-Marie-Tooth disease, a demyelinating disease of the peripheral

27 MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor and sensory neu

28 2), cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy.

29 iated with the human disorders Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).

30 known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respect

31 ic heterogeneity, for example, Charcot-Marie-Tooth disease and congenital disorders of glycosylation.

32 characterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot

33 lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.

34 ning the molecular genetics of Charcot-Marie-Tooth disease are occurring.

35 lt-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe, childhood-ons

36 se disability in children with Charcot-Marie-Tooth disease but no data exit about the disability caus

37 inical trials of patients with Charcot-Marie-Tooth disease caused by MPZ gene mutations.

38 e of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), while a del

39 Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 people and is cau

40 mily members, is implicated in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (H

41 vely inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for

42 inical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofila

43 H) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of peroneal muscles.

44 Charcot-Marie Tooth disease (CMT) forms a clinically and genetically h

45 Mutations in Charcot-Marie-Tooth disease (CMT) genes are the cause of rare familial

46 Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characteriz

47 Charcot-Marie-Tooth disease (CMT) is a clinically and genetically hete

48 Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neu

49 Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disor

50 Charcot Marie Tooth disease (CMT) is a group of inherited disorders ch

51 Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 1

52 Charcot-Marie-Tooth disease (CMT) is the most common inherited disorde

53 Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromu

54 Charcot-Marie-Tooth disease (CMT) is the most common inherited periphe

55 Charcot-Marie-Tooth disease (CMT) is the most commonly inherited neuro

56 In contrast, Charcot-Marie-Tooth disease (CMT) is thought to be a completely distin

57 PLE) cause autosomal dominant, Charcot-Marie-Tooth disease (CMT) type 1C.

58 hondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy cha

59 Mutations in Mfn2 cause Charcot-Marie-Tooth disease (CMT) type 2A, an inherited disease charac

60 Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct

61 ty to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and

62 l neuropathies associated with Charcot-Marie-Tooth disease (CMT).

63 s debated whether it occurs in Charcot-Marie-Tooth disease (CMT).

64 herited peripheral neuropathy (Charcot Marie Tooth disease [CMT] 1B), indicating that PKCalpha-mediat

65 d with the most common form of Charcot-Marie-Tooth Disease (CMT1A).

66 X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherited neuropathy c

67 2), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neurop

68 , which is mutated in X-linked Charcot-Marie-Tooth Disease (CMT1X), was delivered intrathecally into

69 erlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrop

70 to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/

71 l myelin protein 22 (PMP22) to Charcot-Marie-Tooth disease (CMTD) type 1A.

72 and the neurological disorder Charcot-Marie Tooth disease (CMTD).

73 tants associated with X-linked Charcot-Marie-Tooth disease (CMTX) in communication-incompetent mammal

74 X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuro

75 The X-linked form of Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropat

76 viously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its effect on the

77 peripheral neuropathy X-linked Charcot-Marie-Tooth disease (CMTX).

78 ith autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological,

79 liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital

80 ense mutations associated with Charcot-Marie-Tooth disease, diabetes insipidus, retinitis pigmentosa,

81 We identified a large Charcot-Marie-Tooth disease family with a novel mutation in the Connex

82 amily with a recessive form of Charcot-Marie-Tooth disease for which the genetic basis had not been i

83 disease, Huntington's disease, Charcot-Marie-Tooth disease, heart failure, schizophrenia, epilepsy, c

84 L mutations are known to cause Charcot-Marie-Tooth disease in humans and motor neuron disease in mice

85 have been previously linked to Charcot-Marie-Tooth disease in humans.

86 unrecognized aspect of axonal Charcot-Marie-Tooth disease in mouse models of CMT2D.

87 hin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to

88 Charcot-Marie-Tooth disease is a group of hereditary peripheral neurop

89 X-linked Charcot-Marie-Tooth disease is an inherited peripheral neuropathy aris

90 Charcot-Marie-Tooth disease is characterized by length-dependent axona

91 X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by muta

92 degenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for PI(3)P as a s

93 CMTX, the X-linked form of Charcot-Marie-Tooth disease, is an inherited peripheral neuropathy ari

94 Studies of the Charcot-Marie-Tooth disease locus on chromosome 17 have implicated the

95 We characterized three Cx32CT Charcot-Marie-Tooth disease mutants (R219H, R230C, and F235C) and iden

96 fantile onset group had higher Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and slower

97 notypes were quantified by the Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and the Ch

98 use INF2 mutations can lead to Charcot-Marie-Tooth disease, our results provide a potential cellular

99 y score version 1 or 2 and the Charcot-Marie-Tooth disease paediatric scale outcome instruments.

100 Scores on the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), a well-validate

101 disorders of myelin, including Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher disease and Vanishin

102 linked myotubular myopathy and Charcot-Marie-Tooth disease, result from mutant MTM1 or MTMR2 lipid ph

103 ogical disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a parti

104 concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system to ide

105 such as diabetic neuropathy or Charcot-Marie-Tooth diseases, that are commonly associated with a proc

106 mbers of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1 and

107 rare genetic disorders such as Charcot-Marie-Tooth disease, to common conditions including Alzheimer'

108 Charcot-Marie-Tooth disease type 1 (CMT1) is caused by mutations in th

109 e sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation i

110 ral neuropathy consistent with Charcot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsp

111 identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an ad

112 e in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas

113 dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1.

114 re the second leading cause of Charcot-Marie-Tooth disease type 1.

115 on duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients wi

116 rited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy

117 Ten patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and nine patients with chr

118 The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary

119 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-M

120 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-M

121 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increas

122 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb dupl

123 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication o

124 yelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication

125 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common heritab

126 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherit

127 estigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant peripheral neu

128 t arm of chromosome 17 include Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary neuropathy wit

129 plication syndrome delineated, Charcot-Marie-Tooth disease type 1A (CMT1A), results from unequal cros

130 Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent form of

131 neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to

132 to pressure palsies (HNPP) and Charcot-Marie-Tooth disease type 1A (CMT1A).

133 he duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A).

134 ve neuropathy in subjects with Charcot-Marie-Tooth disease type 1A (CMT1A).

135 ystematically in patients with Charcot-Marie-Tooth disease type 1A (n = 32), chronic inflammatory dem

136 ention that might be useful in Charcot-Marie-Tooth disease type 1A and other neuropathies that involv

137 velocities and axonal loss in Charcot-Marie-Tooth disease type 1A are poorly understood, in part bec

138 constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear injection of a YAC c

139 emyelination was absent in the Charcot-Marie-Tooth disease type 1A group, but identifiable in all pat

140 Charcot-Marie-Tooth disease type 1A is most commonly caused by a dupli

141 A key feature of Charcot-Marie-Tooth disease type 1A is secondary death of axons.

142 Charcot-Marie-Tooth disease type 1A is the most common inherited neuro

143 Charcot-Marie-Tooth disease type 1A is the most frequent inherited per

144 98, which lies proximal to the Charcot Marie-Tooth disease type 1A locus.

145 ce is similar genetically to a Charcot-Marie-Tooth disease type 1A pedigree in humans, whereas the ho

146 shortened internodal length in Charcot-Marie-Tooth disease type 1A suggests a potential developmental

147 e palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the reciprocal pr

148 Charcot-Marie-Tooth disease type 1A, a hereditary demyelinating neurop

149 mly shortened in patients with Charcot-Marie-Tooth disease type 1A, compared with those in normal con

150 evious findings in humans with Charcot-Marie-Tooth disease type 1A, we found that Schwann cell c-Jun

151 esis of axonal degeneration in Charcot-Marie-Tooth disease type 1A.

152 ssfully treat rodent models of Charcot-Marie-Tooth disease type 1A.

153 ific transgenic mouse model of Charcot-Marie-Tooth disease type 1A.

154 by using the C3 mouse model of Charcot-Marie-Tooth disease type 1A.

155 e two contrasting functions in Charcot-Marie-Tooth disease type 1A: on the one hand they are the gene

156 onsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model.

157 elin protein zero (MPZ), cause Charcot-Marie-Tooth Disease type 1B (CMT1B), typically thought of as a

158 Charcot-Marie-Tooth disease type 1B is caused by mutations in myelin p

159 authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part becaus

160 r packing interface and causes Charcot-Marie-Tooth disease type 1B, severely inhibits dimerization, s

161 rited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B.

162 Z gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B.

163 yelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B.

164 Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited

165 hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D.

166 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor

167 gs in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2).

168 ating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

169 chondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing PO

170 ered for genetically undefined Charcot-Marie-Tooth disease type 2.

171 Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in

172 le neurodegenerative condition Charcot-Marie-Tooth disease type 2A (CMT2A).

173 Charcot-Marie-Tooth disease type 2A associated with MFN2 mutations is

174 Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant n

175 N IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically hetero

176 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular

177 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular

178 V (dSMA-V) in three families, Charcot-Marie-Tooth disease type 2D (CMT2D) in a single family, and as

179 Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve diso

180 al nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still largely unresolve

181 Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, i

182 ause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F (CMT2F).

183 ght (NF-L) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E) in humans.

184 locus for autosomal recessive Charcot-Marie-Tooth disease type 2H on chromosome 8q13-21.1 was exclud

185 neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L.

186 ted form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (CMT2N).

187 AP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A.

188 Autosomal recessive Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating heredit

189 Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating

190 Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating

191 A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive de

192 elated protein 2 (MTMR2) cause Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe demyelinating

193 editary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C).

194 In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), o

195 ult in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, and polymic

196 Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the

197 linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, although the mech

198 in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clin

199 have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory

200 The overlap of axonal Charcot-Marie-Tooth disease with both diseases, as well as the common

201 he neuromuscular junction, and Charcot-Marie Tooth disease without neurologic complications.

202 nsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrogyria w