ライフサイエンスコーパス: Marie

1 Marie and eastern open lake fluxes.

2 Marie Kondo, an E2 conjugating enzyme, and the E3 CTLH l

3 is Letter, the words "M.G.F. was funded by a Marie Sklodowska-Curie Individual Fellowship (No 701464)

4 Much as he and Marie Krogh demonstrated that active transport of gases

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

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

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

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

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

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

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

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

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

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

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 a peripheral neuropathy ass

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

19 Charcot-Marie-Tooth (CMT) disease is most commonly caused by dup

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

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

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

23 Charcot-Marie-Tooth (CMT) neuropathies are a group of genetic di

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

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

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

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

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

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

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

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

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

33 Charcot-Marie-Tooth disease (CMT) is the most common peripheral

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

35 Charcot-Marie-Tooth disease (CMT) reduces health-related quality

36 Charcot-Marie-Tooth disease (CMT) type 2A is a form of periphera

37 Charcot-Marie-Tooth disease and the related disorders hereditary

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

56 Charcot-Marie-Tooth disease type 4C is the most common recessive

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

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 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]).

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

63 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

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

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

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

67 axia oculomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2).

68 cal segmental glomerulosclerosis and Charcot-Marie-Tooth disease result from reduced CAP-KAc-actin bi

69 rulosclerosis, a kidney disease, and Charcot-Marie-Tooth disease, a neuropathy.

70 , idiopathic pulmonary fibrosis, and Charcot-Marie-Tooth disease, highlighting their therapeutic pote

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

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

73 hat caused a combination of FSGS and Charcot-Marie-Tooth disease.

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

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

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

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

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

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

80 d to peripheral neuropathies such as Charcot-Marie-Tooth disease in humans.

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

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

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

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

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

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

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

88 a focus on spinal muscular atrophy, Charcot-Marie-Tooth disease and spinal and bulbar muscular atrop

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

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

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

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

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

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

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

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

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

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

99 motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetic

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

101 ogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropath

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

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

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

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

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

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

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

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

114 , yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect th

115 t commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axona

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

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

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

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

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

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

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

123 acellular domain of P0), that causes Charcot-Marie-Tooth type 1B (CMT1B) neuropathy in humans and a s

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

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

126 In contrast, Charcot-Marie-Tooth disease-causing mutations that disrupt the s

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

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

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

130 inant form of the disease designated Charcot-Marie-Tooth type 2O disease (CMT2O) in 2011.

131 incurable neurodegenerative disease Charcot-Marie-Tooth neuropathy (CMT), caused by dominant mono-al

132 cause the neurodegenerative disease Charcot-Marie-Tooth type 2A (CMT2A).

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

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

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

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

137 ch as the neurodegenerative disorder Charcot-Marie-Tooth disease along with other central nervous sys

138 to cases of the neurologic disorder Charcot-Marie-Tooth disease that are accompanied by nephropathy,

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

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

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

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

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

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

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

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

147 individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy,

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

149 l palsy, stroke, muscular dystrophy, Charcot-Marie-Tooth disease, and sarcopenia.

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

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

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

153 17p11.2 duplication was required for Charcot-Marie-Tooth disease 1A, and classification as pathologic

154 ific RNAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant

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

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

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

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

159 everal P2 gene mutations cause human Charcot-Marie-Tooth neuropathy, but the mature myelin sheath ass

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

179 Assessments included Charcot-Marie-Tooth Neuropathy Score version 2 (CMTNSv2), CMTNSv

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

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

182 y peripheral neuropathies, including Charcot-Marie-Tooth disease.

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

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

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

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

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

188 X-linked Charcot-Marie-Tooth disease (CMT1X), one of the commonest forms

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

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

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

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

193 Importantly, we find that multiple Charcot-Marie-Tooth type 2 disease-linked mutations in Mfn2 (CMT

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

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

196 icient mouse model of the neuropathy Charcot-Marie-Tooth 4F displays a highly pathological myelin pro

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

198 ith the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2 (CMT2).

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

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

201 the inherited peripheral neuropathy Charcot-Marie-Tooth disease; however, the mechanism by which GDA

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

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

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

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

206 ng demyelinating and axonal forms of Charcot-Marie Tooth (CMT) neuropathy, Dejerine-Sottas neuropathy

207 ify a previously unreported cause of Charcot-Marie-Tooth (CMT) disease, a mutation in the mt-tRNA(Val

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

209 nologies for use in the modelling of Charcot-Marie-Tooth 1A, a human genetic Schwann-cell disorder fe

210 n wild-type mice and mouse models of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystroph

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

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

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

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

215 hich has been implicated in cases of Charcot-Marie-Tooth disease (CMTD) in humans, acts by blocking h

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

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

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

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

220 7p12) causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the reciprocal dele

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

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

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

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

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

226 linical and genetic heterogeneity of Charcot-Marie-Tooth neuropathy (CMT).

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

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

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

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

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

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

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

234 tofusin 2 lead to the development of Charcot-Marie-Tooth type 2A (CMT2A), a dominant axonal form of p

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

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

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

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

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

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

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

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

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

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

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

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

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

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

260 tant variant etiologically linked to Charcot-Marie-Tooth syndrome.

261 y targeted to Schwann cells to treat Charcot-Marie-Tooth disease type 4C and potentially other simila

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

263 ene replacement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenotype of t

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

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

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

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

268 tural history study of children 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 2011, we recruited 20 patients with Charcot-Marie-Tooth disease 1A, 20 patients with inclusion body

272 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

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

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

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

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

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

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

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

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

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

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

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

284 rowing list of genes associated with Charcot-Marie-Tooth disease, many patients with axonal forms lac

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

286 d to cause either FSGS alone or with Charcot-Marie-Tooth disease.

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

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

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

290 nts, including those associated with Charcot-Marie-Tooth type 2B neuropathy, markedly decreases axona

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

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

293 EU Marie Sklodowska-Curie Actions programme.

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

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

296 isation for Scientific Research (NWO), H2020 Marie Sklodowska-Curie Innovative Training Network Europ

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

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 research and innovation programme under the Marie Sklodowska-Curie grant agreement No 701464".