ライフサイエンスコーパス: tooth disease

1 pheral neuropathies, including Charcot-Marie-Tooth disease.

2 eurodegenerative diseases like Charcot-Marie-Tooth disease.

3 gmental glomerulosclerosis and Charcot-Marie-Tooth disease.

4 sible therapeutic strategy for Charcot-Marie-Tooth disease.

5 e of the peripheral neuropathy Charcot-Marie-Tooth disease.

6 used a combination of FSGS and Charcot-Marie-Tooth disease.

7 in family members affected by Charcot-Marie-Tooth disease.

8 ic diagnosis in a patient with Charcot-Marie-Tooth disease.

9 linating neuropathies, such as Charcot-Marie-Tooth disease.

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

11 es for the most common form of Charcot-Marie-Tooth disease.

12 es collectively referred to as Charcot-Marie-Tooth disease.

13 opathy or severe demyelinating Charcot-Marie-Tooth disease.

14 lerosis (FSGS) with or without Charcot-Marie-Tooth disease.

15 with a presentation similar to Charcot-Marie-Tooth disease.

16 otrophic lateral sclerosis and Charcot-Marie-Tooth disease.

17 posita and her mother also had Charcot-Marie-Tooth disease.

18 ns in the GDAP1 gene can cause Charcot-Marie-Tooth disease.

19 ith autosomal recessive axonal Charcot-Marie-Tooth disease.

20 ing autosomal recessive axonal Charcot-Marie-Tooth disease.

21 nd sensory neuropathies called Charcot-Marie-Tooth disease.

22 sies or demyelinating forms of Charcot-Marie-Tooth disease.

23 ause either FSGS alone or with Charcot-Marie-Tooth disease.

24 ients had no family history of Charcot-Marie-Tooth disease.

25 els of diabetic neuropathy and Charcot-Marie-Tooth diseases.

26 e progression in patients with Charcot-Marie-Tooth disease 1A (CMT1A).

27 study of patients with either Charcot-Marie-Tooth disease 1A or inclusion body myositis who were att

28 we recruited 20 patients with Charcot-Marie-Tooth disease 1A, 20 patients with inclusion body myosit

29 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%, 1.3-4.0, p=0.

30 2 duplication was required for Charcot-Marie-Tooth disease 1A, and classification as pathologically o

31 in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome (YVS).

32 dromic sensorineural deafness, Charcot-Marie-Tooth disease-5, and Arts Syndrome.

33 osis (13 studies), followed by Charcot-Marie-Tooth disease (6 studies) and Guillain-Barre syndrome (6

34 ng protein, result in X-linked Charcot-Marie-Tooth disease, a demyelinating disease of the peripheral

35 ave been identified that cause Charcot-Marie-Tooth disease, a disorder that can affect myelin sheaths

36 lerosis, a kidney disease, and Charcot-Marie-Tooth disease, a neuropathy.

37 MTMR)2 gene cause the type 4B1 Charcot-Marie-Tooth disease, a severe hereditary motor and sensory neu

38 the neurodegenerative disorder Charcot-Marie-Tooth disease along with other central nervous system dy

39 2), cause the X-linked form of Charcot-Marie-Tooth disease, an inherited demyelinating neuropathy.

40 d in a family with axonal-type Charcot-Marie-Tooth disease and also in 24 cases in human neuropathies

41 iated with the human disorders Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).

42 known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respect

43 ic heterogeneity, for example, Charcot-Marie-Tooth disease and congenital disorders of glycosylation.

44 pheral neuropathies, including Charcot-Marie-Tooth disease and Dejerine-Sottas syndrome.

45 characterized genetic cause of Charcot-Marie-Tooth disease and identified another family with Charcot

46 lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.

47 us on spinal muscular atrophy, Charcot-Marie-Tooth disease and spinal and bulbar muscular atrophy.

48 Charcot-Marie-Tooth disease and the related disorders hereditary motor

49 y, stroke, muscular dystrophy, Charcot-Marie-Tooth disease, and sarcopenia.

50 trophic lateral sclerosis, and Charcot-Marie-Tooth disease; and discuss therapeutic approaches target

51 ning the molecular genetics of Charcot-Marie-Tooth disease are occurring.

52 lt-onset, inherited neuropathy Charcot-Marie-Tooth disease, as well as the more severe, childhood-ons

53 se disability in children with Charcot-Marie-Tooth disease but no data exit about the disability caus

54 inical trials of patients with Charcot-Marie-Tooth disease caused by MPZ gene mutations.

55 In contrast, Charcot-Marie-Tooth disease-causing mutations that disrupt the stabili

56 e of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), while a del

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

58 -type mice and mouse models of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy, wit

59 mily members, is implicated in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (H

60 vely inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for

61 inical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofila

62 H) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of peroneal muscles.

63 Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the

64 Charcot-Marie Tooth disease (CMT) forms a clinically and genetically h

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

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

67 ently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genetically undiagn

68 Charcot-Marie-Tooth disease (CMT) is a clinically and genetically hete

69 Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neu

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

71 Charcot Marie Tooth disease (CMT) is a group of inherited disorders ch

72 Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neu

73 Charcot-Marie-Tooth disease (CMT) is a neuropathy of the peripheral ne

74 Axonal Charcot-Marie-Tooth disease (CMT) is genetically heterogeneous, with 1

75 Charcot-Marie-Tooth disease (CMT) is one of the most common and geneti

76 Charcot-Marie-Tooth disease (CMT) is the most common inherited disorde

77 Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromu

78 Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropa

79 Charcot-Marie-Tooth disease (CMT) is the most common inherited periphe

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

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

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

83 Charcot-Marie-Tooth disease (CMT) reduces health-related quality of li

84 ogressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of the patients (

85 PLE) cause autosomal dominant, Charcot-Marie-Tooth disease (CMT) type 1C.

86 Charcot-Marie-Tooth disease (CMT) type 2A is a form of peripheral neur

87 hondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy cha

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

89 ble cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spin

90 patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics that make them

91 Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct

92 most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD.

93 ty to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and

94 s debated whether it occurs in Charcot-Marie-Tooth disease (CMT).

95 l neuropathies associated with Charcot-Marie-Tooth disease (CMT).

96 GBS (n = 30, 66 time points), Charcot-Marie-Tooth disease (CMT, n = 20), CNS disease controls with m

97 herited peripheral neuropathy (Charcot Marie Tooth disease [CMT] 1B), indicating that PKCalpha-mediat

98 d with the most common form of Charcot-Marie-Tooth Disease (CMT1A).

99 X-linked Charcot-Marie-Tooth disease (CMT1X) is a common inherited neuropathy c

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

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

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

103 erlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrop

104 e de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in

105 ymmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2).

106 to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/

107 culomotor apraxia-4 (AOA4) and Charcot-Marie-Tooth disease (CMT2B2).

108 as been implicated in cases of Charcot-Marie-Tooth disease (CMTD) in humans, acts by blocking hemorrh

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

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

111 tants associated with X-linked Charcot-Marie-Tooth disease (CMTX) in communication-incompetent mammal

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

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

114 viously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its effect on the

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

116 ith autosomal recessive axonal Charcot-Marie-Tooth disease defined by clinical, electrophysiological,

117 liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital

118 ense mutations associated with Charcot-Marie-Tooth disease, diabetes insipidus, retinitis pigmentosa,

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

120 amily with a recessive form of Charcot-Marie-Tooth disease for which the genetic basis had not been i

121 re, missense mutations causing Charcot-Marie-Tooth disease, frontotemporal dementia, and Alzheimer's

122 disease, Huntington's disease, Charcot-Marie-Tooth disease, heart failure, schizophrenia, epilepsy, c

123 pathic pulmonary fibrosis, and Charcot-Marie-Tooth disease, highlighting their therapeutic potential

124 nherited peripheral neuropathy Charcot-Marie-Tooth disease; however, the mechanism by which GDAP1 fun

125 L mutations are known to cause Charcot-Marie-Tooth disease in humans and motor neuron disease in mice

126 eripheral neuropathies such as Charcot-Marie-Tooth disease in humans.

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

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

129 hin corpus callosum and axonal Charcot-Marie-Tooth disease in three related patients, prompted us to

130 Charcot-Marie-Tooth disease is a group of hereditary peripheral neurop

131 X-linked Charcot-Marie-Tooth disease is an inherited peripheral neuropathy aris

132 Charcot-Marie-Tooth disease is an inherited peripheral neuropathy that

133 Charcot-Marie-Tooth disease is characterized by length-dependent axona

134 X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by muta

135 degenerative disorder, type 4B Charcot-Marie-Tooth disease, is also highly specific for PI(3)P as a s

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

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

138 list of genes associated with Charcot-Marie-Tooth disease, many patients with axonal forms lack a ge

139 of the mutants associated with Charcot-Marie-Tooth disease, motivating further study.

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

141 c muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, cardiomyopathy or

142 fantile onset group had higher Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and slower

143 notypes were quantified by the Charcot-Marie-Tooth disease neuropathy score version 1 or 2 and the Ch

144 use INF2 mutations can lead to Charcot-Marie-Tooth disease, our results provide a potential cellular

145 y score version 1 or 2 and the Charcot-Marie-Tooth disease paediatric scale outcome instruments.

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

147 disorders of myelin, including Charcot-Marie-Tooth disease, Pelizaeus-Merzbacher disease and Vanishin

148 gmental glomerulosclerosis and Charcot-Marie-Tooth disease result from reduced CAP-KAc-actin binding.

149 linked myotubular myopathy and Charcot-Marie-Tooth disease, result from mutant MTM1 or MTMR2 lipid ph

150 ogical disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a parti

151 concept that genetic causes of Charcot-Marie-Tooth disease serve as a living microarray system to ide

152 ncluding ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone marrow failure.

153 correlated different types of Charcot-Marie-Tooth disease symptoms to subregions within IgMPZ tetram

154 ses of the neurologic disorder Charcot-Marie-Tooth disease that are accompanied by nephropathy, mostl

155 such as diabetic neuropathy or Charcot-Marie-Tooth diseases, that are commonly associated with a proc

156 mbers of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1 and

157 rare genetic disorders such as Charcot-Marie-Tooth disease, to common conditions including Alzheimer'

158 Charcot-Marie-Tooth disease type 1 (CMT1) is caused by mutations in th

159 T1-weighted lower leg MRIs in Charcot-Marie-Tooth disease type 1 A (CMT1A) patients, using a deep le

160 e sequencing on a patient with Charcot-Marie-Tooth disease type 1 and identified a de novo mutation i

161 ral neuropathy consistent with Charcot-Marie-Tooth disease type 1 in addition to Waardenburg-Hirschsp

162 identified another family with Charcot-Marie-Tooth disease type 1 that has a mutation affecting an ad

163 e in severity from adult-onset Charcot-Marie-Tooth disease type 1 to childhood-onset Dejerine-Sottas

164 dominant PMP2 mutations cause Charcot-Marie-Tooth disease type 1.

165 re the second leading cause of Charcot-Marie-Tooth disease type 1.

166 on duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted in patients wi

167 rited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy

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

169 The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary

170 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-M

171 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-M

172 Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increas

173 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4 Mb dupl

174 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication o

175 yelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication

176 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common heritab

177 Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherit

178 onsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients with lower baseli

179 estigated the genomic disorder Charcot-Marie-Tooth disease type 1A (CMT1A), a dominant peripheral neu

180 t arm of chromosome 17 include Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary neuropathy wit

181 plication syndrome delineated, Charcot-Marie-Tooth disease type 1A (CMT1A), results from unequal cros

182 ad to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited p

183 Charcot-Marie-Tooth disease type 1A (CMT1A), the most frequent form of

184 neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to

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

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

187 he duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A).

188 ystematically in patients with Charcot-Marie-Tooth disease type 1A (n = 32), chronic inflammatory dem

189 ention that might be useful in Charcot-Marie-Tooth disease type 1A and other neuropathies that involv

190 velocities and axonal loss in Charcot-Marie-Tooth disease type 1A are poorly understood, in part bec

191 constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear injection of a YAC c

192 emyelination was absent in the Charcot-Marie-Tooth disease type 1A group, but identifiable in all pat

193 Charcot-Marie-Tooth disease type 1A is most commonly caused by a dupli

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

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

196 Charcot-Marie-Tooth disease type 1A is the most frequent inherited per

197 98, which lies proximal to the Charcot Marie-Tooth disease type 1A locus.

198 ce is similar genetically to a Charcot-Marie-Tooth disease type 1A pedigree in humans, whereas the ho

199 shortened internodal length in Charcot-Marie-Tooth disease type 1A suggests a potential developmental

200 e palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the reciprocal pr

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

202 mly shortened in patients with Charcot-Marie-Tooth disease type 1A, compared with those in normal con

203 evious findings in humans with Charcot-Marie-Tooth disease type 1A, we found that Schwann cell c-Jun

204 causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the reciprocal deletion o

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

206 esis of axonal degeneration in Charcot-Marie-Tooth disease type 1A.

207 ssfully treat rodent models of Charcot-Marie-Tooth disease type 1A.

208 ific transgenic mouse model of Charcot-Marie-Tooth disease type 1A.

209 e two contrasting functions in Charcot-Marie-Tooth disease type 1A: on the one hand they are the gene

210 onsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model.

211 elin protein zero (MPZ), cause Charcot-Marie-Tooth Disease type 1B (CMT1B), typically thought of as a

212 Charcot-Marie-Tooth disease type 1B is caused by mutations in myelin p

213 authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part becaus

214 r packing interface and causes Charcot-Marie-Tooth disease type 1B, severely inhibits dimerization, s

215 yelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B.

216 rited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B.

217 Z gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B.

218 Charcot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited

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

220 Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal domin

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

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

223 e hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2 (CMT2).

224 ating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

225 chondrial disorders related to Charcot-Marie-Tooth disease type 2 were also excluded by sequencing PO

226 ered for genetically undefined Charcot-Marie-Tooth disease type 2.

227 Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in

228 mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nerv

229 only autosomal dominant) cause Charcot-Marie-Tooth disease type 2A (CMT2A), the commonest axonal form

230 induced peripheral neuropathy, Charcot-Marie-Tooth disease type 2A (CMT2A).

231 dels of Fragile X syndrome and Charcot-Marie-Tooth disease type 2A (CMT2A).

232 le neurodegenerative condition Charcot-Marie-Tooth disease type 2A (CMT2A).

233 Charcot-Marie-Tooth disease type 2A associated with MFN2 mutations is

234 Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant n

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

236 been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).

237 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular

238 Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular

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

240 Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve diso

241 al nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still largely unresolve

242 NAi as a potential therapy for Charcot-Marie-Tooth disease type 2D (CMT2D), caused by dominant mutati

243 Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, i

244 ause autosomal-dominant axonal Charcot-Marie-Tooth disease type 2E (CMT2E) and type 2F (CMT2F).

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

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

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

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

249 ntly inherited polyneuropathy, Charcot-Marie-Tooth disease type 2P (CMT2P).

250 s cause the axonal neuropathy, Charcot-Marie-Tooth disease type 2S (CMT2S), and some null alleles are

251 more recently, juvenile-onset Charcot-Marie-Tooth disease type 2S (CMT2S).

252 iduals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy, and t

253 AP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A.

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

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

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

257 A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive de

258 elated protein 2 (MTMR2) cause Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe demyelinating

259 editary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C).

260 ecessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C).

261 eted to Schwann cells to treat Charcot-Marie-Tooth disease type 4C and potentially other similar demy

262 Charcot-Marie-Tooth disease type 4C is the most common recessively inh

263 placement therapy for treating Charcot-Marie-Tooth disease type 4C to rescue the phenotype of the Sh3

264 In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), o

265 Charcot-Marie-Tooth disease type 4J (CMT4J) is caused by recessive, lo

266 ult in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome, and polymic

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

268 linked myotubular myopathy and Charcot-Marie-Tooth disease (type 4B), respectively, although the mech

269 in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clin

270 have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory

271 h GPR17, epilepsy with RBFOX3, Charcot-Marie-Tooth disease with ARPC3 and anterior segment ocular abn

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

273 he neuromuscular junction, and Charcot-Marie Tooth disease without neurologic complications.

274 nsible for the human disorders Charcot-Marie-Tooth disease, Yunis-Varon syndrome and polymicrogyria w