ライフサイエンスコーパス: Charcot

1 Charcot discussed the music abilities of several patient

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

3 Charcot neuroarthropathy was diagnosed in 4.6% of SPKT r

4 Charcot-Leyden crystals (CLCs) are Galectin-10 protein c

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

6 Charcot-Marie-Tooth (CMT) disease comprises a geneticall

7 Charcot-Marie-Tooth (CMT) disease comprises a large numb

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

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

10 Charcot-Marie-Tooth (CMT) disease is a peripheral neurop

11 Charcot-Marie-Tooth (CMT) disease is an inherited neurol

12 Charcot-Marie-Tooth (CMT) disease is most commonly cause

13 Charcot-Marie-Tooth (CMT) disease type 2A is a progressi

14 Charcot-Marie-Tooth (CMT) diseases are the most common h

15 Charcot-Marie-Tooth (CMT) diseases are the most common h

16 Charcot-Marie-Tooth (CMT) neuropathies are a group of ge

17 Charcot-Marie-Tooth (CMT) neuropathies are collectively

18 Charcot-Marie-Tooth (CMT) neuropathies are inherited neu

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

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

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

22 Charcot-Marie-Tooth disease (CMT) is a length-dependent

23 Charcot-Marie-Tooth disease (CMT) is a neuropathy of the

24 Charcot-Marie-Tooth disease (CMT) is the most common per

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

26 Charcot-Marie-Tooth disease (CMT) reduces health-related

27 Charcot-Marie-Tooth disease (CMT) type 2A is a form of p

28 Charcot-Marie-Tooth disease and the related disorders he

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

47 Charcot-Marie-Tooth disease type 4C is the most common r

48 Charcot-Marie-Tooth disorder (CMT) is the most common in

49 Charcot-Marie-Tooth type 2A, a peripheral neuropathy, an

50 Charcot-Marie-Tooth type 2B (CMT2B) is one of the most c

51 Charcot-Marie-Tooth type 2P (CMT2P) has been associated

52 centage units [pu; 0.2], calf -1.1 pu [0.2]; Charcot-Marie-Tooth 1A thigh -0.3 pu [0.1], calf -0.7 pu

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

54 is thigh 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 [

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

56 r 1); (ii) secretion of pre-formed IL-8, and Charcot Leyden crystal (CLC) formation, which was most e

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

58 on in ataxia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2).

59 osinophil extracellular traps cell death and Charcot-Leyden crystals, but independent of IL-17.

60 al glomerulosclerosis, a kidney disease, and Charcot-Marie-Tooth disease, a neuropathy.

61 isorders, idiopathic pulmonary fibrosis, and Charcot-Marie-Tooth disease, highlighting their therapeu

62 those that caused a combination of FSGS and Charcot-Marie-Tooth disease.

63 that focal segmental glomerulosclerosis and Charcot-Marie-Tooth disease result from reduced CAP-KAc-

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

65 ause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies.

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

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

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

69 uvenile [i.e., Niemann-Pick type C (NPC) and Charcot-Marie-Tooth (CMT) disease] to late onset (Parkin

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

71 l (MRC) sum score (-1.5 points per year) and Charcot Marie Tooth Neuropathy Score (CMTNS:2.7 points p

72 cal disorders and his research into aphasia, Charcot's ideas about how the brain processes music are

73 for a scientific commentary on this article.Charcot-Marie-Tooth type 1 neuropathies are inherited di

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

75 antly inherited axonal degeneration known as Charcot-Marie-Tooth type 2B through an unknown mechanism

76 aths lead to peripheral neuropathies such as Charcot-Marie-Tooth disease in humans.

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

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

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

80 to result in peripheral neuropathies such as Charcot-Marie-Tooth type 1A (CMT1A) disease via mechanis

81 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neur

82 lts with a focus on spinal muscular atrophy, Charcot-Marie-Tooth disease and spinal and bulbar muscul

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

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

85 editary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and

86 ene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular func

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

88 ly heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor n

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

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

91 Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-do

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

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

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

95 ressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic

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

97 re associated with a genetic disease, called Charcot-Marie-Tooth syndrome.

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

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

100 FN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commone

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

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

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

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

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

106 ons in which at the glycosylation site cause Charcot-Marie-Tooth neuropathy, has abundant GlcNAc-6-O-

107 se (GlyRS) and tyrosyl-tRNA synthetase cause Charcot-Marie-Tooth (CMT) disease, the most common herit

108 ant mutations in five tRNA synthetases cause Charcot-Marie-Tooth (CMT) neuropathy, suggesting that al

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

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

111 tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily a

112 41T) combined with a FIG4 null allele causes Charcot-Marie-Tooth 4J disease, a severe form of periphe

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

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

115 y impaired by a mutation, K157N, that causes Charcot-Marie-Tooth neuropathy 2B.

116 the extracellular domain of P0), that causes Charcot-Marie-Tooth type 1B (CMT1B) neuropathy in humans

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

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

119 In contrast, Charcot-Marie-Tooth disease-causing mutations that disru

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

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

122 gene cause autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy.

123 In this paper, we describe Charcot's ideas regarding music and place them within th

124 omal dominant form of the disease designated Charcot-Marie-Tooth type 2O disease (CMT2O) in 2011.

125 d in the osteolysis associated with diabetic Charcot neuroarthropathy (CN); however, the links with m

126 r is the incurable neurodegenerative disease Charcot-Marie-Tooth neuropathy (CMT), caused by dominant

127 in MFN2 cause the neurodegenerative disease Charcot-Marie-Tooth type 2A (CMT2A).

128 n2 cause the human neurodegenerative disease Charcot-Marie-Tooth type 2A.

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

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

131 dies, such as the neurodegenerative disorder Charcot-Marie-Tooth disease along with other central ner

132 well as to cases of the neurologic disorder Charcot-Marie-Tooth disease that are accompanied by neph

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

134 ammaH2AX levels to the neurological disorder Charcot-Marie-Tooth (CMT) syndrome, and we find a role f

135 the inherited and incurable nerve disorder, Charcot-Marie-Tooth (CMT) neuropathy, have demonstrated

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

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

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

139 e, secondary inflammation common to distinct Charcot-Marie-Tooth type 1 neuropathies as a disease amp

140 an unusual Dutch family co-segregating DM1, Charcot-Marie-Tooth neuropathy, encephalopathic attacks

141 185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

142 orted in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular

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

144 cerebral palsy, stroke, muscular dystrophy, Charcot-Marie-Tooth disease, and sarcopenia.

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

146 The human eosinophil Charcot-Leyden crystal (CLC) protein is a member of the

147 c of the 27th Annual Meeting of the European Charcot Foundation.

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

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

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

151 ele-specific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by d

152 sclerosis (FSGS), a kidney disease, and FSGS+Charcot-Marie-Tooth neuropathy.

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

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

155 Several P2 gene mutations cause human Charcot-Marie-Tooth neuropathy, but the mature myelin sh

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

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

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

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

160 TRPV4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spina

161 ple aminoacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mech

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

163 One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripher

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

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

166 Gain of glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B.

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

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

169 Nonetheless, in Charcot-Marie-Tooth 1B neuropathy mice, we show that act

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

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

172 mitochondrial tethering as a common theme in Charcot-Marie-Tooth (CMT) type 2 disease.

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

174 Assessments included Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNSv2)

175 iomarkers (6-gene signature [6GS], including Charcot-Leyden crystal galectin [CLC]; carboxypeptidase

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

177 A signature of 6 genes, including Charcot-Leydon crystal protein (CLC); carboxypeptidase A

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

179 fected by peripheral neuropathies, including Charcot-Marie-Tooth disease.

180 erved in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is pred

181 form of this disease, Dominant Intermediate Charcot-Marie-Tooth disorder type C (DI-CMTC), is due to

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

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

184 X-linked Charcot-Marie-Tooth disease (CMT1X), one of the commones

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

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

187 Jean-Martin Charcot (1825-93) was a well-known French neurologist.

188 on involvement was attributed to Jean-Martin Charcot in 1874, his initial case was published nearly a

189 related protein-misfolding diseases in mice, Charcot-Marie-Tooth 1B, and amyotrophic lateral sclerosi

190 isingly, treatment of mouse models mimicking Charcot-Marie-Tooth type 1A neuropathy also caused macro

191 Importantly, we find that multiple Charcot-Marie-Tooth type 2 disease-linked mutations in M

192 s most comprehensive discussion about music, Charcot described a professional trombone player who dev

193 milies with the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2 (CMT2).

194 are thought to cause the dominant neuropathy Charcot-Marie-Tooth 2B (CMT2B) by a gain-of-function mec

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

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

197 types of the inherited peripheral neuropathy Charcot-Marie-Tooth disease; however, the mechanism by w

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

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

200 axin-deficient mouse model of the neuropathy Charcot-Marie-Tooth 4F displays a highly pathological my

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

202 ophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neur

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

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

205 icoids are the main risk factors for de novo Charcot neuroarthropathy after SPKT.

206 fication of risk factors involved in de novo Charcot neuroarthropathy by multivariate analysis were u

207 rable confusion and under-acknowledgement of Charcot's ideas about music and the brain.

208 ing with age that included the appearance of Charcot-Leyden crystals.

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

210 TRIM2, which has been implicated in cases of Charcot-Marie-Tooth disease (CMTD) in humans, acts by bl

211 We identify a previously unreported cause of Charcot-Marie-Tooth (CMT) disease, a mutation in the mt-

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

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

214 2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherite

215 oding Mitofusin 2 lead to the development of Charcot-Marie-Tooth type 2A (CMT2A), a dominant axonal f

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

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

218 thetase (GlyRS) that cause an axonal form of Charcot-Marie-Tooth (CMT) diseases, the most common here

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

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

221 7p12 (c17p12) causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the recipro

222 on of human FIG4 results in a severe form of Charcot-Marie-Tooth neuropathy.

223 in a model for the dominant X-linked form of Charcot-Marie-Tooth type 1 neuropathy, the second most c

224 including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) neuropathy, Dejerine-Sottas ne

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

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

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

228 omplex clinical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT).

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

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

231 e extracellular domain of P0) mouse model of Charcot-Marie-Tooth type 1B (CMT1B), the genetic and pha

232 generated an R98C 'knock-in' mouse model of Charcot-Marie-Tooth type 1B, where a mutation encoding R

233 ing technologies for use in the modelling of Charcot-Marie-Tooth 1A, a human genetic Schwann-cell dis

234 muscle in wild-type mice and mouse models of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular

235 Mouse models of Charcot-Marie-Tooth neuropathy have indicated that low-g

236 re show that in two distinct mouse models of Charcot-Marie-Tooth type 1 neuropathies, the systemic sh

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

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

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

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

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

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

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

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

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

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

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

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

249 odel mimicking a mild, demyelination-related Charcot-Marie-Tooth type 1 neuropathy caused by reduced

250 tfoldings, which are the hallmark of several Charcot-Marie-Tooth neuropathies.

251 ion of DNA sequences from a primate-specific Charcot-Marie-Tooth element, and in situ hybridization f

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

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

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

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

256 inherited demyelinating neuropathies of the Charcot-Marie-Tooth type 1 (CMT1) appear to represent co

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

258 abetes (T2D); however, their contribution to Charcot foot (CF) disease is not known.

259 f so-called bile infarcts that correspond to Charcot-Gombault necrosis in human cholestasis.

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

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

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

263 ed Sac3/Fig4 phosphatase have been linked to Charcot-Marie-Tooth disorder CMT4J and amyotrophic later

264 fusin mutant variant etiologically linked to Charcot-Marie-Tooth syndrome.

265 tion hyperparathyroidism were not related to Charcot neuroarthropathy after SPKT.

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

267 cal core to ALS, as clear today as it was to Charcot and others.

268 t therapy targeted to Schwann cells to treat Charcot-Marie-Tooth disease type 4C and potentially othe

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

270 elop a gene replacement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenot

271 CCL26), thymic stromal lymphopoietin (TSLP), Charcot-Leyden crystal (CLC), C-C motif chemokine recept

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

273 edicted to lower PI(3,5)P(2) levels underlie Charcot-Marie-Tooth type 4J neuropathy and are present i

274 adjusted to body weight were associated with Charcot neuroarthropathy (P=0.001 and P<0.0001, respecti

275 n cells and a persistent UPR associated with Charcot-Marie-Tooth 1B (CMT1B) demyelinating peripheral

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

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

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

279 te the growing list of genes associated with Charcot-Marie-Tooth disease, many patients with axonal f

280 the human GARS gene that is associated with Charcot-Marie-Tooth neuropathy type 2D (CMT2D), from a m

281 Kfyve/VAC14/FIG4 pathway are associated with Charcot-Marie-Tooth syndrome and amyotrophic lateral scl

282 b7a mutants, including those associated with Charcot-Marie-Tooth type 2B neuropathy, markedly decreas

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

284 dinal natural history study of children with Charcot-Marie-Tooth (CMT) disease.

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

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

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

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

289 reported to cause either FSGS alone or with Charcot-Marie-Tooth disease.

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

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

292 eeded natural history data for patients with Charcot-Marie-Tooth (CMT) disease.

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

294 (0.2%, -0.2 to 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%,

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

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

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

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

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

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