ライフサイエンスコーパス: Charcot-Marie-Tooth disease

1 ggesting a possible therapeutic strategy for Charcot-Marie-Tooth disease.

2 st common cause of the peripheral neuropathy Charcot-Marie-Tooth disease.

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

4 cing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease.

5 nherited demyelinating neuropathies, such as Charcot-Marie-Tooth disease.

6 ng is a cause of the human disorder X-linked Charcot-Marie-Tooth disease.

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

8 ral neuropathies collectively referred to as Charcot-Marie-Tooth disease.

9 ne-Sottas neuropathy or severe demyelinating Charcot-Marie-Tooth disease.

10 individuals with autosomal recessive axonal Charcot-Marie-Tooth disease.

11 atures, including autosomal recessive axonal Charcot-Marie-Tooth disease.

12 pheral motor and sensory neuropathies called Charcot-Marie-Tooth disease.

13 o pressure palsies or demyelinating forms of Charcot-Marie-Tooth disease.

14 Both the proposita and her mother also had Charcot-Marie-Tooth disease.

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

16 enty-three patients had no family history of Charcot-Marie-Tooth disease.

17 velopment of neurodegenerative diseases like Charcot-Marie-Tooth disease.

18 , focal and segmental glomerulosclerosis and Charcot-Marie-Tooth disease.

19 in rodent models of diabetic neuropathy and Charcot-Marie-Tooth diseases.

20 ational cohort study of patients with either Charcot-Marie-Tooth disease 1A or inclusion body myositi

21 July 7, 2011, we recruited 20 patients with Charcot-Marie-Tooth disease 1A, 20 patients with inclusi

22 (0.2%, -0.2 to 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%,

23 omosome 17p11.2 duplication was required for Charcot-Marie-Tooth disease 1A, and classification as pa

24 hat is mutated in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon s

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

26 channel-forming protein, result in X-linked Charcot-Marie-Tooth disease, a demyelinating disease of

27 MTM-related (MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor a

28 onnexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating

29 and are associated with the human disorders Charcot-Marie-Tooth disease and amyotrophic lateral scle

30 mutations are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral scle

31 c and phenotypic heterogeneity, for example, Charcot-Marie-Tooth disease and congenital disorders of

32 obands with uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another famil

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

34 vances in defining the molecular genetics of Charcot-Marie-Tooth disease are occurring.

35 cause the adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe,

36 n shown to cause disability in children with Charcot-Marie-Tooth disease but no data exit about the d

37 cessary for clinical trials of patients with Charcot-Marie-Tooth disease caused by MPZ gene mutations

38 Charcot Marie Tooth disease (CMT) is a group of inherite

39 Charcot-Marie Tooth disease (CMT) forms a clinically and

40 st common cause of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A

41 Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 peo

42 heavy-chain family members, is implicated in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic

43 ly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biologi

44 escribe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in

45 dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of pero

46 Mutations in Charcot-Marie-Tooth disease (CMT) genes are the cause of

47 Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensive

48 Charcot-Marie-Tooth disease (CMT) is a clinically and ge

49 Charcot-Marie-Tooth disease (CMT) is a common heritable

50 Charcot-Marie-Tooth disease (CMT) is a genetically heter

51 Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterog

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

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

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

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

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

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

58 tant for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral

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

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

61 y with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndr

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

63 isorders, it is debated whether it occurs in Charcot-Marie-Tooth disease (CMT).

64 s a form of inherited peripheral neuropathy (Charcot Marie Tooth disease [CMT] 1B), indicating that P

65 e 17 associated with the most common form of Charcot-Marie-Tooth Disease (CMT1A).

66 X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherite

67 onnexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyel

68 interest, GJB1, which is mutated in X-linked Charcot-Marie-Tooth Disease (CMT1X), was delivered intra

69 is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile for

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

71 lerosis (FSGS) and the neurological disorder Charcot-Marie Tooth disease (CMTD).

72 p of peripheral myelin protein 22 (PMP22) to Charcot-Marie-Tooth disease (CMTD) type 1A.

73 in32 (Cx32) mutants associated with X-linked Charcot-Marie-Tooth disease (CMTX) in communication-inco

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

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

76 n-32 mRNA, previously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its

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

78 ted families with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electro

79 uropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, a

80 smembrane missense mutations associated with Charcot-Marie-Tooth disease, diabetes insipidus, retinit

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

82 identified a family with a recessive form of Charcot-Marie-Tooth disease for which the genetic basis

83 , Parkinson's disease, Huntington's disease, Charcot-Marie-Tooth disease, heart failure, schizophreni

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

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

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

87 e pattern of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, p

88 Charcot-Marie-Tooth disease is a group of hereditary per

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

90 Charcot-Marie-Tooth disease is characterized by length-d

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

92 d in the neurodegenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for

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

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

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

96 Patient phenotypes were quantified by the Charcot-Marie-Tooth disease neuropathy score version 1 o

97 The infantile onset group had higher Charcot-Marie-Tooth disease neuropathy score version 1 o

98 Because INF2 mutations can lead to Charcot-Marie-Tooth disease, our results provide a poten

99 ease neuropathy score version 1 or 2 and the Charcot-Marie-Tooth disease paediatric scale outcome ins

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

101 is of various disorders of myelin, including Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher diseas

102 n diseases, X-linked myotubular myopathy and Charcot-Marie-Tooth disease, result from mutant MTM1 or

103 l for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its orig

104 s support the concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray

105 neuropathies, such as diabetic neuropathy or Charcot-Marie-Tooth diseases, that are commonly associat

106 ation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to ch

107 iseases, from rare genetic disorders such as Charcot-Marie-Tooth disease, to common conditions includ

108 by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal her

109 1, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus.

110 The Charcot-Marie Tooth disease type 1A (CMT1A) duplication

111 ffected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2).

112 Charcot-Marie-Tooth disease type 1 (CMT1) is caused by m

113 med whole exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de n

114 se and peripheral neuropathy consistent with Charcot-Marie-Tooth disease type 1 in addition to Waarde

115 h disease and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation a

116 hies that range in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset De

117 monstrate that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1.

118 PZ mutations are the second leading cause of Charcot-Marie-Tooth disease type 1.

119 nking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted

120 wo common inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and heredita

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

122 Charcot-Marie-Tooth disease type 1A (CMT1A) is associate

123 Charcot-Marie-Tooth disease type 1A (CMT1A) is associate

124 Charcot-Marie-Tooth disease type 1A (CMT1A) is associate

125 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by

126 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by

127 l dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked wi

128 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most

129 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most

130 We investigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant

131 proximal short arm of chromosome 17 include Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary

132 first microduplication syndrome delineated, Charcot-Marie-Tooth disease type 1A (CMT1A), results fro

133 Charcot-Marie-Tooth disease type 1A (CMT1A), the most fr

134 sociated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas del

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

136 proximity to the duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A).

137 ications improve neuropathy in subjects with Charcot-Marie-Tooth disease type 1A (CMT1A).

138 these issues systematically in patients with Charcot-Marie-Tooth disease type 1A (n = 32), chronic in

139 linical intervention that might be useful in Charcot-Marie-Tooth disease type 1A and other neuropathi

140 wed conduction velocities and axonal loss in Charcot-Marie-Tooth disease type 1A are poorly understoo

141 s this end, we constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear inject

142 Segmental demyelination was absent in the Charcot-Marie-Tooth disease type 1A group, but identifia

143 Charcot-Marie-Tooth disease type 1A is most commonly cau

144 A key feature of Charcot-Marie-Tooth disease type 1A is secondary death o

145 Charcot-Marie-Tooth disease type 1A is the most common i

146 Charcot-Marie-Tooth disease type 1A is the most frequent

147 genotype in mice is similar genetically to a Charcot-Marie-Tooth disease type 1A pedigree in humans,

148 Uniformly shortened internodal length in Charcot-Marie-Tooth disease type 1A suggests a potential

149 ity to pressure palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the

150 Charcot-Marie-Tooth disease type 1A, a hereditary demyel

151 gth was uniformly shortened in patients with Charcot-Marie-Tooth disease type 1A, compared with those

152 ne with our previous findings in humans with Charcot-Marie-Tooth disease type 1A, we found that Schwa

153 o the pathogenesis of axonal degeneration in Charcot-Marie-Tooth disease type 1A.

154 acid can successfully treat rodent models of Charcot-Marie-Tooth disease type 1A.

155 a tissue-specific transgenic mouse model of Charcot-Marie-Tooth disease type 1A.

156 e tested this by using the C3 mouse model of Charcot-Marie-Tooth disease type 1A.

157 wann cells have two contrasting functions in Charcot-Marie-Tooth disease type 1A: on the one hand the

158 (UPR) is responsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model.

159 in protein, myelin protein zero (MPZ), cause Charcot-Marie-Tooth Disease type 1B (CMT1B), typically t

160 Charcot-Marie-Tooth disease type 1B is caused by mutatio

161 R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy

162 glycine zipper packing interface and causes Charcot-Marie-Tooth disease type 1B, severely inhibits d

163 cause the inherited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B.

164 mutation in MPZ gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B.

165 Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B.

166 Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominan

167 ith congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D.

168 185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

169 Mitochondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by

170 thus be considered for genetically undefined Charcot-Marie-Tooth disease type 2.

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

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

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

174 Charcot-Marie-Tooth disease type 2C (CMT2C) is an autoso

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

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

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

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

179 Charcot-Marie-Tooth disease type 2D (CMT2D) is a periphe

180 ctive peripheral nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still lar

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

182 n B1 (HSPB1) cause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F

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

184 An additional locus for autosomal recessive Charcot-Marie-Tooth disease type 2H on chromosome 8q13-2

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

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

187 ein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A.

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

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

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

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

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

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

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

195 ns of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrom

196 Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its anim

197 mutated in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, alt

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

199 rious reports have described associations of Charcot-Marie-Tooth disease with a suspected or confirme

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

201 diseases of the neuromuscular junction, and Charcot-Marie Tooth disease without neurologic complicat

202 and are responsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and po