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 crystal (CLC) protein, initially reported

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 clinically and ge

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

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

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

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

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

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

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

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

17 Charcot-Marie-Tooth (CMT) neuropathy represents a geneti

18 Charcot-Marie-Tooth (CMT) neuropathy with visual impairm

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 genetically heter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 4B (CMT4B) is a severe,

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

49 Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is an aut

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

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

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

53 Charcot-Marie-Tooth types 4B1 and 4B2 are severe demyeli

54 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

55 c sensory neuropathy, 6 HSAN II families, 20 Charcot-Marie-Tooth type I families and 20 families with

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

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

58 ar disorders myotubular myopathy and type 4B Charcot-Marie-Tooth syndrome.

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

60 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 [

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

62 her TH2 polarization and express cystatin A, Charcot-Leydon crystal protein, and prostaglandin D2 syn

63 However, the acute Charcot foot is also characterised by a pronounced infla

64 The pathogenesis of the acute Charcot foot of diabetes remains unclear.

65 Over a century ago, Charcot and Purves-Stewart recognised these deformities,

66 Although Charcot described amyotrophic lateral sclerosis (ALS) mo

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

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

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

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

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

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

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

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

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

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

77 n diseases, including multiple sclerosis and Charcot-Marie-Tooth peripheral neuropathies.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

103 has been an enigma since its description by Charcot in 1869.

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

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

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

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

108 in the neurofilament light (NFL) gene cause Charcot-Marie-Tooth (CMT) disease.

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

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

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

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

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

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

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

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

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

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

119 41T) combined with a FIG4 null allele causes Charcot-Marie-Tooth 4J disease, a severe form of periphe

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

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

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

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

124 as disease, while others cause a 'classical' Charcot-Marie-Tooth (CMT) disease Type 1B (CMT1B) phenot

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

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

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

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

129 impairment typical of classic demyelinating Charcot-Marie-Tooth neuropathy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

145 185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

167 yopathy, and MTMR2 and MTMR13 are mutated in Charcot-Marie-Tooth syndrome.

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

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

174 or many neurodegenerative diseases including Charcot-Marie-Tooth.

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

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

177 Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CM

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

215 Classically, the course of Charcot-Marie-Tooth (CMT) disease is gradually progressi

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

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

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

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

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

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

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

227 in understanding the demyelinating forms of Charcot-Marie-Tooth (type 1), for which at least a dozen

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

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

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

231 tein trafficking in causing various forms of Charcot-Marie-Tooth.

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

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

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

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

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

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

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

239 The presence of Charcot-Leyden-like crystals in airway macrophages and t

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

262 he pathogenesis of FXTAS; in particular, the Charcot-Marie-Tooth-type neuropathy associated with FXTA

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

291 psies from normal controls and patients with Charcot-Marie-Tooth (CMT) disease caused by mutations in

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).