ライフサイエンスコーパス: Marie

1 Marie and eastern open lake fluxes.

2 Although Marie Curie is known primarily for her discovery of radi

3 In a Perspective, Collins Iwuji and Marie-Louise Newell discuss early findings from Richard

4 Development and Regeneration', organized by Marie Filbin, John Flanagan and Liqun Luo.

5 , NIHR Cambridge Biomedical Research Centre, Marie Curie Actions, Foundation for Development of Inter

6 Charcot Marie Tooth disease (CMT) is a group of inherited disord

7 sum score (-1.5 points per year) and Charcot Marie Tooth Neuropathy Score (CMTNS:2.7 points per year)

8 HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary

9 previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyeli

10 of inherited peripheral neuropathy (Charcot Marie Tooth disease [CMT] 1B), indicating that PKCalpha-

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

12 Charcot-Marie-Tooth (CMT) disease comprises a genetically and cl

13 Charcot-Marie-Tooth (CMT) disease comprises a large number of ge

14 Charcot-Marie-Tooth (CMT) disease is a clinically and geneticall

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

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

17 Charcot-Marie-Tooth (CMT) disease is an inherited neurological d

18 Charcot-Marie-Tooth (CMT) disease type 2A is a progressive, neur

19 Charcot-Marie-Tooth (CMT) diseases are the most common hereditar

20 Charcot-Marie-Tooth (CMT) diseases are the most common heritable

21 Charcot-Marie-Tooth (CMT) neuropathies are collectively the most

22 Charcot-Marie-Tooth (CMT) neuropathies are inherited neuromuscul

23 Charcot-Marie-Tooth (CMT) neuropathy represents a genetically he

24 Charcot-Marie-Tooth (CMT) neuropathy with visual impairment due

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

26 Charcot-Marie-Tooth disease (CMT) is a clinically and geneticall

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

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

29 Charcot-Marie-Tooth disease (CMT) is the most common inherited d

30 Charcot-Marie-Tooth disease (CMT) is the most common inherited n

31 Charcot-Marie-Tooth disease (CMT) is the most common inherited p

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

33 Charcot-Marie-Tooth disease is a group of hereditary peripheral

34 Charcot-Marie-Tooth disease is characterized by length-dependent

35 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with i

36 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 M

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

38 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common h

39 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common i

40 Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent f

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

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

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

44 Charcot-Marie-Tooth disease type 1B is caused by mutations in my

45 Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inhe

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

47 Charcot-Marie-Tooth disease type 2A associated with MFN2 mutatio

48 Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal domi

49 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal mu

50 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal mu

51 Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerv

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

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

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

55 Charcot-Marie-Tooth disorder (CMT) is the most common inherited

56 Charcot-Marie-Tooth is the most common inherited peripheral neur

57 Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an autosomal d

58 Charcot-Marie-Tooth type 2A, a peripheral neuropathy, and domina

59 Charcot-Marie-Tooth type 2B (CMT2B) is one of the most common in

60 Charcot-Marie-Tooth type 2P (CMT2P) has been associated with fra

61 Charcot-Marie-Tooth types 4B1 and 4B2 are severe demyelinating n

62 y neuropathy, 6 HSAN II families, 20 Charcot-Marie-Tooth type I families and 20 families with Charcot

63 units [pu; 0.2], calf -1.1 pu [0.2]; Charcot-Marie-Tooth 1A thigh -0.3 pu [0.1], calf -0.7 pu [0.1]).

64 neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a

65 neurodegenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for PI(3)P

66 ders myotubular myopathy and type 4B Charcot-Marie-Tooth syndrome.

67 ated (MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor and senso

68 4.0 ms [SE 0.5], calf 3.5 ms [0.6]; Charcot-Marie-Tooth 1A thigh 1.0 ms [0.3], calf 2.0 ms [0.3]) an

69 s responsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model.

70 s of the neuromuscular junction, and Charcot-Marie Tooth disease without neurologic complications.

71 [i.e., Niemann-Pick type C (NPC) and Charcot-Marie-Tooth (CMT) disease] to late onset (Parkinson's an

72 in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, although th

73 es, X-linked myotubular myopathy and Charcot-Marie-Tooth disease, result from mutant MTM1 or MTMR2 li

74 and segmental glomerulosclerosis and Charcot-Marie-Tooth disease.

75 nt models of diabetic neuropathy and Charcot-Marie-Tooth diseases.

76 es, including multiple sclerosis and Charcot-Marie-Tooth peripheral neuropathies.

77 al dominant optic atrophy (ADOA) and Charcot-Marie-Tooth syndrome type 2A (CMT-2A).

78 editary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies.

79 al epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J).

80 cientific commentary on this article.Charcot-Marie-Tooth type 1 neuropathies are inherited disorders

81 or and sensory neuropathies known as Charcot-Marie-Tooth (CMT) disease.

82 nt demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with dupli

83 from rare genetic disorders such as Charcot-Marie-Tooth disease, to common conditions including Alzh

84 demyelinating neuropathies, such as Charcot-Marie-Tooth disease.

85 opathies collectively referred to as Charcot-Marie-Tooth disease.

86 affected by FGD dysfunction such as Charcot-Marie-Tooth Syndrome type 4H.

87 t in peripheral neuropathies such as Charcot-Marie-Tooth type 1A (CMT1A) disease via mechanisms that

88 herited axonal degeneration known as Charcot-Marie-Tooth type 2B through an unknown mechanism.

89 ad to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies

90 ereditary human neuropathies such as Charcot-Marie-Tooth.

91 recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of

92 Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous,

93 lies with autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiolo

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

95 n of thin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted

96 PB1) cause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F (CMT2F).

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

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

99 uals with autosomal recessive axonal Charcot-Marie-Tooth disease.

100 including autosomal recessive axonal Charcot-Marie-Tooth disease.

101 Four separate loci for the axonal Charcot-Marie-Tooth neuropathies (type 2) have been identified a

102 Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly

103 nd and in family members affected by Charcot-Marie-Tooth disease.

104 otor and sensory neuropathies called Charcot-Marie-Tooth disease.

105 iated with a genetic disease, called Charcot-Marie-Tooth syndrome.

106 S) and tyrosyl-tRNA synthetase cause Charcot-Marie-Tooth (CMT) disease, the most common heritable dis

107 neurofilament light (NFL) gene cause Charcot-Marie-Tooth (CMT) disease.

108 tions in five tRNA synthetases cause Charcot-Marie-Tooth (CMT) neuropathy, suggesting that altered am

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

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

111 e that dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1.

112 with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions l

113 in, myelin protein zero (MPZ), cause Charcot-Marie-Tooth Disease type 1B (CMT1B), typically thought o

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

115 arin-related protein 2 (MTMR2) cause Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe demyelin

116 utations in the GDAP1 gene can cause Charcot-Marie-Tooth disease.

117 hich at the glycosylation site cause Charcot-Marie-Tooth neuropathy, has abundant GlcNAc-6-O-sulfated

118 The mutant P0S63del causes Charcot-Marie-Tooth 1B neuropathy in humans, and a very similar

119 bined with a FIG4 null allele causes Charcot-Marie-Tooth 4J disease, a severe form of peripheral neur

120 zipper packing interface and causes Charcot-Marie-Tooth disease type 1B, severely inhibits dimerizat

121 ed by a mutation, K157N, that causes Charcot-Marie-Tooth neuropathy 2B.

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

123 se, while others cause a 'classical' Charcot-Marie-Tooth (CMT) disease Type 1B (CMT1B) phenotype with

124 reatable neurodegenerative condition Charcot-Marie-Tooth disease type 2A (CMT2A).

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

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

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

128 icroduplication syndrome delineated, Charcot-Marie-Tooth disease type 1A (CMT1A), results from unequa

129 s neuropathy or severe demyelinating Charcot-Marie-Tooth disease.

130 se autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy.

131 ent typical of classic demyelinating Charcot-Marie-Tooth neuropathy.

132 the human neurodegenerative disease Charcot-Marie-Tooth type 2A.

133 son's disease, Huntington's disease, Charcot-Marie-Tooth disease, heart failure, schizophrenia, epile

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

135 levels to the neurological disorder Charcot-Marie-Tooth (CMT) syndrome, and we find a role for sever

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

137 erited and incurable nerve disorder, Charcot-Marie-Tooth (CMT) neuropathy, have demonstrated that low

138 associated with the human disorders Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (A

139 G4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, and p

140 responsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrog

141 dary inflammation common to distinct Charcot-Marie-Tooth type 1 neuropathies as a disease amplifier.

142 ual Dutch family co-segregating DM1, Charcot-Marie-Tooth neuropathy, encephalopathic attacks and earl

143 segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

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

145 cohort study of patients with either Charcot-Marie-Tooth disease 1A or inclusion body myositis who we

146 enotypic heterogeneity, for example, Charcot-Marie-Tooth disease and congenital disorders of glycosyl

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

148 17p11.2 duplication was required for Charcot-Marie-Tooth disease 1A, and classification as pathologic

149 a possible therapeutic strategy for Charcot-Marie-Tooth disease.

150 s (FSGS), a kidney disease, and FSGS+Charcot-Marie-Tooth neuropathy.

151 he proposita and her mother also had Charcot-Marie-Tooth disease.

152 The infantile onset group had higher Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and

153 oacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mechanism, a

154 One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuro

155 Nonetheless, in Charcot-Marie-Tooth 1B neuropathy mice, we show that activation

156 ain family members, is implicated in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraple

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

158 mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropat

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

160 ns are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, r

161 intervention that might be useful in Charcot-Marie-Tooth disease type 1A and other neuropathies that

162 uction velocities and axonal loss in Charcot-Marie-Tooth disease type 1A are poorly understood, in pa

163 ormly shortened internodal length in Charcot-Marie-Tooth disease type 1A suggests a potential develop

164 thogenesis of axonal degeneration in Charcot-Marie-Tooth disease type 1A.

165 ls have two contrasting functions in Charcot-Marie-Tooth disease type 1A: on the one hand they are th

166 ripheral nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still largely unr

167 A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recess

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

169 and MTMR2 and MTMR13 are mutated in Charcot-Marie-Tooth syndrome.

170 glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B.

171 V4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscul

172 utated in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome

173 rious disorders of myelin, including Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher disease and Va

174 neurodegenerative diseases including Charcot-Marie-Tooth.

175 patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is predicted to

176 Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is

177 this disease, Dominant Intermediate Charcot-Marie-Tooth disorder type C (DI-CMTC), is due to mutatio

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

179 t of neurodegenerative diseases like Charcot-Marie-Tooth disease.

180 X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherited neurop

181 , GJB1, which is mutated in X-linked Charcot-Marie-Tooth Disease (CMT1X), was delivered intrathecally

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

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

184 X-linked Charcot-Marie-Tooth disease is an inherited peripheral neuropath

185 X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused b

186 -forming protein, result in X-linked Charcot-Marie-Tooth disease, a demyelinating disease of the peri

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

188 protein-misfolding diseases in mice, Charcot-Marie-Tooth 1B, and amyotrophic lateral sclerosis.

189 treatment of mouse models mimicking Charcot-Marie-Tooth type 1A neuropathy also caused macrophage bl

190 n inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuro

191 Two inherited neuropathies, Charcot-Marie-Tooth type 2A and autosomal dominant optic atrophy

192 A) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegener

193 ght to cause the dominant neuropathy Charcot-Marie-Tooth 2B (CMT2B) by a gain-of-function mechanism.

194 n cause of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), while

195 e inherited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B.

196 he adult-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe, childho

197 n cause of the peripheral neuropathy Charcot-Marie-Tooth disease.

198 somal dominant peripheral neuropathy Charcot-Marie-Tooth type 2B (CMT2B) disease.

199 demyelinating peripheral neuropathy Charcot-Marie-Tooth type 4B (CMT4B) is characterized by axonal d

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

201 re hereditary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C).

202 Classically, the course of Charcot-Marie-Tooth (CMT) disease is gradually progressive.

203 (GlyRS) that cause an axonal form of Charcot-Marie-Tooth (CMT) diseases, the most common hereditary p

204 rstanding the demyelinating forms of Charcot-Marie-Tooth (type 1), for which at least a dozen loci ha

205 ecessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basi

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

207 ociated with the most common form of Charcot-Marie-Tooth Disease (CMT1A).

208 2 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating

209 an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of am

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

211 ith uncharacterized genetic cause of Charcot-Marie-Tooth disease and identified another family with C

212 ed a family with a recessive form of Charcot-Marie-Tooth disease for which the genetic basis had not

213 t the concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system

214 ions are the second leading cause of Charcot-Marie-Tooth disease type 1.

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

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

217 successfully treat rodent models of Charcot-Marie-Tooth disease type 1A.

218 e-specific transgenic mouse model of Charcot-Marie-Tooth disease type 1A.

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

220 ports have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflam

221 2 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropat

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

223 rategies for the most common form of Charcot-Marie-Tooth disease.

224 re palsies or demyelinating forms of Charcot-Marie-Tooth disease.

225 ee patients had no family history of Charcot-Marie-Tooth disease.

226 Mouse models of Charcot-Marie-Tooth neuropathy have indicated that low-grade sec

227 man FIG4 results in a severe form of Charcot-Marie-Tooth neuropathy.

228 that in two distinct mouse models of Charcot-Marie-Tooth type 1 neuropathies, the systemic short- and

229 el for the dominant X-linked form of Charcot-Marie-Tooth type 1 neuropathy, the second most common fo

230 ed an R98C 'knock-in' mouse model of Charcot-Marie-Tooth type 1B, where a mutation encoding R98C was

231 he most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited diseas

232 fficking in causing various forms of Charcot-Marie-Tooth.

233 t range in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-S

234 e, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part

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

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

237 hies, such as diabetic neuropathy or Charcot-Marie-Tooth diseases, that are commonly associated with

238 y with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.

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

240 elated to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, C

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

242 ne (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A.

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

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

245 is novel form of autosomal recessive Charcot-Marie-Tooth disorder is designated CMT4J.

246 icking a mild, demyelination-related Charcot-Marie-Tooth type 1 neuropathy caused by reduced P0 (MPZ)

247 s, which are the hallmark of several Charcot-Marie-Tooth neuropathies.

248 NA sequences from a primate-specific Charcot-Marie-Tooth element, and in situ hybridization for prima

249 nt phenotypes were quantified by the Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and

250 ropathy score version 1 or 2 and the Charcot-Marie-Tooth disease paediatric scale outcome instruments

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

252 ntal demyelination was absent in the Charcot-Marie-Tooth disease type 1A group, but identifiable in a

253 g score (rho=-0.64, p=0.002) and the Charcot-Marie-Tooth examination score (rho=0.63, p=0.003).

254 ed demyelinating neuropathies of the Charcot-Marie-Tooth type 1 (CMT1) appear to represent completely

255 genesis of FXTAS; in particular, the Charcot-Marie-Tooth-type neuropathy associated with FXTAS may re

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

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

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

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

260 Because INF2 mutations can lead to Charcot-Marie-Tooth disease, our results provide a potential cel

261 Fig4 phosphatase have been linked to Charcot-Marie-Tooth disorder CMT4J and amyotrophic lateral scler

262 forms of the presently non-treatable Charcot-Marie-Tooth type 1 neuropathies.

263 considered for genetically undefined Charcot-Marie-Tooth disease type 2.

264 to lower PI(3,5)P(2) levels underlie Charcot-Marie-Tooth type 4J neuropathy and are present in select

265 om normal controls and patients with Charcot-Marie-Tooth (CMT) disease caused by mutations in myelin

266 and potential issues in a child with Charcot-Marie-Tooth (CMT) disease.

267 tural history study of children with Charcot-Marie-Tooth (CMT) disease.

268 tural history data for patients with Charcot-Marie-Tooth (CMT) disease.

269 and a persistent UPR associated with Charcot-Marie-Tooth 1B (CMT1B) demyelinating peripheral neuropat

270 ipheral neuropathies associated with Charcot-Marie-Tooth disease (CMT).

271 A, previously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its effect

272 2011, we recruited 20 patients with Charcot-Marie-Tooth disease 1A, 20 patients with inclusion body

273 0.2 to 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%, 1.3-4.0

274 to cause disability in children with Charcot-Marie-Tooth disease but no data exit about the disabilit

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

276 e exome sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo muta

277 e and identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting

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

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

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

281 sues systematically in patients with Charcot-Marie-Tooth disease type 1A (n = 32), chronic inflammato

282 uniformly shortened in patients with Charcot-Marie-Tooth disease type 1A, compared with those in norm

283 our previous findings in humans with Charcot-Marie-Tooth disease type 1A, we found that Schwann cell

284 e missense mutations associated with Charcot-Marie-Tooth disease, diabetes insipidus, retinitis pigme

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

286 genetic diagnosis in a patient with Charcot-Marie-Tooth disease.

287 an GARS gene that is associated with Charcot-Marie-Tooth neuropathy type 2D (CMT2D), from a mosaic ge

288 C14/FIG4 pathway are associated with Charcot-Marie-Tooth syndrome and amyotrophic lateral sclerosis i

289 Patients with Charcot-Marie-Tooth Type 2D (CMT2D), caused by dominant mutation

290 type I families and 20 families with Charcot-Marie-Tooth type II.

291 rch Fund International, European Commission (Marie Curie Intra-European Fellowship), Australian Natio

292 A) and polyphenoloxidase (PPO) activity from Marie-Menard apple in pH 3.8 solutions at 20 and 50 degr

293 or-beta (TGF-beta) controls T cell function, Marie et al. and Li et al. created mice with T cells lac

294 Here, Marie Larsson and colleagues discuss the role of dendrit

295 Pierre Marie speculated that MS is an infectious disease and th

296 By nature shy and reserved, Marie's fame, as both a scientist and as an exemplar of

297 Over three decades have passed since Marie Joubert described the original proband for Joubert

298 g repertoire of humpback whales from the Ste Marie channel (Madagascar) to provide more insight into

299 e managed using the Amplatzer device, at the Marie Lannelongue Hospital.

300 acial deposits in the Ford Ranges of western Marie Byrd Land indicate continuous thinning of the West