ライフサイエンスコーパス: Charcot-Marie-Tooth disease

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

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

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

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

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

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

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

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

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

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

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

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

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

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

15 rm of GAN and with a presentation similar to Charcot-Marie-Tooth disease.

16 ns such as amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease.

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

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

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

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

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

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

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

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

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

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

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

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

29 (0.2%, -0.2 to 0.6, p=0.38) in patients with Charcot-Marie-Tooth disease 1A, and at calf level (2.6%,

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

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

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

33 uropathy diagnosis (13 studies), followed by Charcot-Marie-Tooth disease (6 studies) and Guillain-Bar

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

35 ve mutations have been identified that cause Charcot-Marie-Tooth disease, a disorder that can affect

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

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

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

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

40 t we identified in a family with axonal-type Charcot-Marie-Tooth disease and also in 24 cases in huma

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

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

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

44 multiple peripheral neuropathies, including Charcot-Marie-Tooth disease and Dejerine-Sottas syndrome

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

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

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

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

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

50 raplegia, amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease; and discuss therapeutic app

51 vances in defining the molecular genetics of Charcot-Marie-Tooth disease are occurring.

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

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

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

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

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

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

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

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

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

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

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

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

64 dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth disease (CMT) due to atrophy of pero

65 Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (

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

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

68 LRP12 were recently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%-10.6% of genet

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

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

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

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

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

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

75 Charcot-Marie-Tooth disease (CMT) is one of the most com

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

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

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

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

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

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

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

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

84 The disease progressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of

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

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

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

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

89 calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms

90 ns in sera of patients and mouse models with Charcot-Marie-Tooth disease (CMT) with characteristics t

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

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

93 y with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndr

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

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

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

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

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

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

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

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

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

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

104 , including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same priv

105 o the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2).

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

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

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

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

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

111 in32 (Cx32) mutants associated with X-linked Charcot-Marie-Tooth disease (CMTX) in communication-inco

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

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

114 n-32 mRNA, previously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its

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

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

117 uropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, a

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

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

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

121 Furthermore, missense mutations causing Charcot-Marie-Tooth disease, frontotemporal dementia, an

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

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

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

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

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

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

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

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

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

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

132 Charcot-Marie-Tooth disease is an inherited peripheral n

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

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

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

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

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

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

139 bated in many 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 F

141 tal and cardiac muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, card

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

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

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

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

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

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

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

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

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

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

152 nvolvements, including ectodermal dysplasia, Charcot-Marie-Tooth disease, short stature, and bone mar

153 We next correlated different types of Charcot-Marie-Tooth disease symptoms to subregions withi

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

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

156 ation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to ch

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

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

159 1, and cCI17-498, which lies proximal to the Charcot Marie-Tooth disease type 1A locus.

160 The Charcot-Marie Tooth disease type 1A (CMT1A) duplication

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

162 Charcot-Marie-Tooth disease type 1 (CMT1) is caused by m

163 l intensity on T1-weighted lower leg MRIs in Charcot-Marie-Tooth disease type 1 A (CMT1A) patients, u

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

165 se and peripheral neuropathy consistent with Charcot-Marie-Tooth disease type 1 in addition to Waarde

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

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

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

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

170 nking the region duplicated in patients with Charcot-Marie-Tooth disease type 1A (CMT1A) and deleted

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

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

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

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

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

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

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

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

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

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

181 tion (FF) responsiveness is lower in younger Charcot-Marie-Tooth disease type 1A (CMT1A) patients wit

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

183 proximal short arm of chromosome 17 include Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary

184 first microduplication syndrome delineated, Charcot-Marie-Tooth disease type 1A (CMT1A), results fro

185 n (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commone

186 Charcot-Marie-Tooth disease type 1A (CMT1A), the most fr

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

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

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

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

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

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

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

194 s this end, we constructed a mouse model for Charcot-Marie-Tooth disease type 1A by pronuclear inject

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

196 Charcot-Marie-Tooth disease type 1A is most commonly cau

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

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

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

200 genotype in mice is similar genetically to a Charcot-Marie-Tooth disease type 1A pedigree in humans,

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

202 ity to pressure palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the

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

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

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

206 7p12 (c17p12) causes the most common form of Charcot-Marie-Tooth disease type 1A, whereas the recipro

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

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

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

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

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

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

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

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

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

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

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

218 cause the inherited demyelinating neuropathy Charcot-Marie-Tooth disease type 1B.

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

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

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

222 Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, a

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

224 185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family.

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

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

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

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

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

230 f MFN2 mutant-induced peripheral neuropathy, Charcot-Marie-Tooth disease type 2A (CMT2A).

231 ve in mouse models of Fragile X syndrome and Charcot-Marie-Tooth disease type 2A (CMT2A).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

249 ts in a dominantly inherited polyneuropathy, Charcot-Marie-Tooth disease type 2P (CMT2P).

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

251 (SMARD1), and, more recently, juvenile-onset Charcot-Marie-Tooth disease type 2S (CMT2S).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

271 izophrenia with GPR17, epilepsy with RBFOX3, Charcot-Marie-Tooth disease with ARPC3 and anterior segm

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

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

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