-
1
-
-
0032553926
-
Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2
-
Auer-Grumbach M., Strasser-Fuchs S., Wagner K., Korner E., and Fazekas F. (1998) Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. J. Neurol. Sci. 154, 72-75.
-
(1998)
J. Neurol. Sci.
, vol.154
, pp. 72-75
-
-
Auer-Grumbach, M.1
Strasser-Fuchs, S.2
Wagner, K.3
Korner, E.4
Fazekas, F.5
-
2
-
-
0038744272
-
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
-
Azzedine H., Bolino A., Taieb T., et al. (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am. J. Hum. Genet. 72, 1141-1153.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1141-1153
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
-
3
-
-
0032961829
-
Central visual, acoustic and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene
-
Bähr M., Andres F., Timmerman V., Nelis E., Van Broeckhoven C., and Dichans J. (1999) Central visual, acoustic and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. J. Neurol. Neurosurg. Psychiatry 66, 202-206.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.66
, pp. 202-206
-
-
Bähr, M.1
Andres, F.2
Timmerman, V.3
Nelis, E.4
Van Broeckhoven, C.5
Dichans, J.6
-
4
-
-
0002407847
-
Approach to peripheral neuropathy and neuronopathy
-
Barohn R. J. (1998) Approach to peripheral neuropathy and neuronopathy. Semin. Neurol. 18, 7-18.
-
(1998)
Semin. Neurol.
, vol.18
, pp. 7-18
-
-
Barohn, R.J.1
-
5
-
-
0030919339
-
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
-
Birouk N., Gouider R., LeGuern E., et al. (1997) Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120, 813-823.
-
(1997)
Brain
, vol.120
, pp. 813-823
-
-
Birouk, N.1
Gouider, R.2
LeGuern, E.3
-
6
-
-
0036370445
-
The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy
-
Boerkoel C. F., Takashima H., and Lupski J. R. (2002b) The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr. Neurol. Neurosci. Rep. 2, 70-77.
-
(2002)
Curr. Neurol. Neurosci. Rep.
, vol.2
, pp. 70-77
-
-
Boerkoel, C.F.1
Takashima, H.2
Lupski, J.R.3
-
7
-
-
0035406339
-
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
-
Boerkoel C. F., Takashima H., Bacino C. A., Daentl D., and Lupski J. R. (2001) EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 3, 153-157.
-
(2001)
Neurogenetics
, vol.3
, pp. 153-157
-
-
Boerkoel, C.F.1
Takashima, H.2
Bacino, C.A.3
Daentl, D.4
Lupski, J.R.5
-
8
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
-
Boerkoel C. F., Takashima H., Garcia C. A., et al. (2002a) Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51, 190-201.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
-
9
-
-
0030919434
-
Mutation analysis of the MPZ, PMP22 and Cx32 genes in Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies patients with Spanish ancestry
-
Bort S., Nelis E., Timmerman V., et al. (1997) Mutation analysis of the MPZ, PMP22 and Cx32 genes in Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies patients with Spanish ancestry. Hum. Genet. 99, 746-754.
-
(1997)
Hum. Genet.
, vol.99
, pp. 746-754
-
-
Bort, S.1
Nelis, E.2
Timmerman, V.3
-
10
-
-
0026544673
-
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
-
Boylan K. B., Ferriero D. M., Greco C. M., Sheldon R. A., and Dew M. (1992) Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann. Neurol. 31, 337-340.
-
(1992)
Ann. Neurol.
, vol.31
, pp. 337-340
-
-
Boylan, K.B.1
Ferriero, D.M.2
Greco, C.M.3
Sheldon, R.A.4
Dew, M.5
-
11
-
-
23744491866
-
Development and validation of a CGH microarray for clinical cytogenetic diagnosis
-
Cheung S. W., Shaw C. A., Yu W., et al. (2005) Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet. Med. 7, 422-432.
-
(2005)
Genet. Med.
, vol.7
, pp. 422-432
-
-
Cheung, S.W.1
Shaw, C.A.2
Yu, W.3
-
12
-
-
21844454446
-
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies
-
Choi J. R., Lee W. H., Sunwoo I. N., Lee E. K., Lee C. H., and Lim J. B. (2005) Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies. Yonsei Med. J. 46, 347-352.
-
(2005)
Yonsei Med. J.
, vol.46
, pp. 347-352
-
-
Choi, J.R.1
Lee, W.H.2
Sunwoo, I.N.3
Lee, E.K.4
Lee, C.H.5
Lim, J.B.6
-
13
-
-
6044277961
-
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
-
Choi B. O., Lee M. S., Shin S. H., et al. (2004) Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 24, 185, 186.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 185
-
-
Choi, B.O.1
Lee, M.S.2
Shin, S.H.3
-
14
-
-
0025608912
-
Familial trigeminal neuralgia and Charcot-Marie-Tooth neuropathy. Report of two families and review
-
Coffey R. J. and Fromm G. H. (1991) Familial trigeminal neuralgia and Charcot-Marie-Tooth neuropathy. Report of two families and review. Surg. Neurol. 35, 49-53.
-
(1991)
Surg. Neurol.
, vol.35
, pp. 49-53
-
-
Coffey, R.J.1
Fromm, G.H.2
-
15
-
-
0019494495
-
Intensive evaluation of reffered unclassified neuropathies yealds improved diagnosis
-
Dyck P. J., Oviatt K. F., and Lambert E. H. (1981) Intensive evaluation of reffered unclassified neuropathies yealds improved diagnosis. Ann. Neurol. 10, 222-226.
-
(1981)
Ann. Neurol.
, vol.10
, pp. 222-226
-
-
Dyck, P.J.1
Oviatt, K.F.2
Lambert, E.H.3
-
16
-
-
0033554331
-
A clinical review of Charcot-Marie-Tooth
-
Garcia C. A. (1999) A clinical review of Charcot-Marie-Tooth. Ann. NY Acad. Sci. 883, 69-76.
-
(1999)
Ann. NY Acad. Sci.
, vol.883
, pp. 69-76
-
-
Garcia, C.A.1
-
17
-
-
0025363925
-
Diaphragmatic weakness in hereditary motor and sensory neuropathy
-
Hardie R., Harding A. E., Hirsch N., Gelder C., Macrae A. D., and Thomas P. K. (1990) Diaphragmatic weakness in hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psychiatry 53, 348-350.
-
(1990)
J. Neurol. Neurosurg. Psychiatry
, vol.53
, pp. 348-350
-
-
Hardie, R.1
Harding, A.E.2
Hirsch, N.3
Gelder, C.4
Macrae, A.D.5
Thomas, P.K.6
-
18
-
-
0018817642
-
Autosomal recessive forms of hereditary motor and sensory neuropathy
-
Harding A. E. and Thomas P. K. (1980) Autosomal recessive forms of hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psychiatry 43, 669-678.
-
(1980)
J. Neurol. Neurosurg. Psychiatry
, vol.43
, pp. 669-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
19
-
-
0037224513
-
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): A clinicopathological study of 205 Japanese patients
-
Hattori N., Yamamoto M., Yoshihara T., et al. (2003) Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126, 134-151.
-
(2003)
Brain
, vol.126
, pp. 134-151
-
-
Hattori, N.1
Yamamoto, M.2
Yoshihara, T.3
-
20
-
-
3543095095
-
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
-
Hirano R., Takashima H., Umehara F., et al. (2004) SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology 63, 577-580.
-
(2004)
Neurology
, vol.63
, pp. 577-580
-
-
Hirano, R.1
Takashima, H.2
Umehara, F.3
-
21
-
-
0027108731
-
De-novo mutation in hereditary motor and sensory neuropathy type 1
-
Hoogendijk J. E., Hensels G. W., Gabreëls-Festen A. A. W. M., et al. (1992) De-novo mutation in hereditary motor and sensory neuropathy type 1. Lancet 339, 1081, 1082.
-
(1992)
Lancet
, vol.339
, pp. 1081
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreëls-Festen, A.A.W.M.3
-
22
-
-
0030896412
-
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
Janssen E. A. M., Kemp S., Hensels G. W., et al. (1997) Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum. Genet. 99, 501-505.
-
(1997)
Hum. Genet.
, vol.99
, pp. 501-505
-
-
Janssen, E.A.M.1
Kemp, S.2
Hensels, G.W.3
-
23
-
-
9144242516
-
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
-
Jordanova A., Thomas F. P., Guergueltcheva V., et al. (2003) Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am. J. Hum. Genet. 73, 1423-1430.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1423-1430
-
-
Jordanova, A.1
Thomas, F.P.2
Guergueltcheva, V.3
-
24
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
Kaku D. A., Parry G. J., Malamut R., Lupski J. R., and Garcia C. A. (1993) Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43, 1806-1808.
-
(1993)
Neurology
, vol.43
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, C.A.5
-
25
-
-
0033910767
-
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy - Lom
-
Kalaydjieva L., Gresham D., Gooding R., et al. (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy - Lom. Am. J. Hum. Genet. 67, 47-58.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
-
26
-
-
16044365767
-
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
-
Kalaydjieva L., Hallmayer J., Chandler D., et al. (1996) Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet. 14, 214-217.
-
(1996)
Nature Genet.
, vol.14
, pp. 214-217
-
-
Kalaydjieva, L.1
Hallmayer, J.2
Chandler, D.3
-
27
-
-
0037426401
-
The gene for HMSN2C maps to 12q23-24: A region of neuromuscular disorders
-
Klein C. J., Cunningham J. M., Atkinson E. J., et al. (2003) The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60, 1151-1156.
-
(2003)
Neurology
, vol.60
, pp. 1151-1156
-
-
Klein, C.J.1
Cunningham, J.M.2
Atkinson, E.J.3
-
28
-
-
0036605376
-
Cellular mechanisms of connexin32 mutations associated with CNS manifestations
-
Kleopa K. A., Yum S. W., and Scherer S. S. (2002) Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J. Neurosci. Res. 68, 522-534.
-
(2002)
J. Neurosci. Res.
, vol.68
, pp. 522-534
-
-
Kleopa, K.A.1
Yum, S.W.2
Scherer, S.S.3
-
29
-
-
0005088348
-
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
-
Kovach M. J., Lin J. -P., Boyadjiev S., et al. (1999) A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64, 1580-1593.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1580-1593
-
-
Kovach, M.J.1
Lin, J.P.2
Boyadjiev, S.3
-
30
-
-
22544465572
-
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
-
Lawson V. H., Graham B. V., and Flanigan K. M. (2005) Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65, 197-204.
-
(2005)
Neurology
, vol.65
, pp. 197-204
-
-
Lawson, V.H.1
Graham, B.V.2
Flanigan, K.M.3
-
31
-
-
0031988078
-
Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: Detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation
-
Leonardis L., Zidar J., Ekici A., Peterlin B., and Rautenstrauss B. (1998) Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. Int. J. Mol. Med. 1, 495-501.
-
(1998)
Int. J. Mol. Med.
, vol.1
, pp. 495-501
-
-
Leonardis, L.1
Zidar, J.2
Ekici, A.3
Peterlin, B.4
Rautenstrauss, B.5
-
32
-
-
0842304504
-
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies
-
Li J., Krajewski K., Lewis R. A., and Shy M. E. (2004) Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 29, 205-210.
-
(2004)
Muscle Nerve
, vol.29
, pp. 205-210
-
-
Li, J.1
Krajewski, K.2
Lewis, R.A.3
Shy, M.E.4
-
33
-
-
0030187782
-
DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies
-
Lupski J. R. (1996) DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin. Chem. 42, 995-998.
-
(1996)
Clin. Chem.
, vol.42
, pp. 995-998
-
-
Lupski, J.R.1
-
34
-
-
0000907007
-
Charcot-Marie-Tooth peripheral neuropathies and related disorders
-
Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds., McGraw-Hill, New York
-
Lupski J. R. and Garcia C. A. (2001) Charcot-Marie-Tooth peripheral neuropathies and related disorders., in The metabolic and molecular bases of inherited disease, Scriver C. R., Beaudet A. L., Sly W. S., and Valle D., eds., McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Lupski, J.R.1
Garcia, C.A.2
-
35
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski J. R., Montes de Oca-Luna R., Slaugenhaupt S., et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219-239.
-
(1991)
Cell
, vol.66
, pp. 219-239
-
-
Lupski, J.R.1
Montes De Oca-Luna, R.2
Slaugenhaupt, S.3
-
36
-
-
23944460142
-
17p duplicated Charcot-Marie-Tooth 1A: Characteristics of a new population
-
Marques W., Jr., Freitas M. R., Nascimento O. J., et al. (2005) 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. J. Neurol. 252, 972-979.
-
(2005)
J. Neurol.
, vol.252
, pp. 972-979
-
-
Marques Jr., W.1
Freitas, M.R.2
Nascimento, O.J.3
-
37
-
-
0034032649
-
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
-
Mersiyanova I. V., Ismailov S. M., Polyakov A. V., et al. (2000) Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum. Mutat. 15, 340-347.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 340-347
-
-
Mersiyanova, I.V.1
Ismailov, S.M.2
Polyakov, A.V.3
-
38
-
-
0033645778
-
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)
-
Misu K., Yoshihara T., Shikama Y., et al. (2000) An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). J. Neurol. Neurosurg. Psychiatry 69, 806-811.
-
(2000)
J. Neurol. Neurosurg. Psychiatry
, vol.69
, pp. 806-811
-
-
Misu, K.1
Yoshihara, T.2
Shikama, Y.3
-
39
-
-
0034960303
-
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families
-
Mostacciuolo M. L., Righetti E., Zortea M., et al. (2001) Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. Hum. Mutat. 18, 32-41.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 32-41
-
-
Mostacciuolo, M.L.1
Righetti, E.2
Zortea, M.3
-
40
-
-
0035907149
-
Delayed functional recovery by vincristine after sciatic nerve crush injury: A mouse model of vincristine neurotoxicity
-
Nakamura Y., Shimizu H., Nishijima C., Ueno M., and Arakawa Y. (2001) Delayed functional recovery by vincristine after sciatic nerve crush injury: a mouse model of vincristine neurotoxicity. Neurosci. Lett. 304, 5-8.
-
(2001)
Neurosci. Lett.
, vol.304
, pp. 5-8
-
-
Nakamura, Y.1
Shimizu, H.2
Nishijima, C.3
Ueno, M.4
Arakawa, Y.5
-
41
-
-
0035726549
-
Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity
-
Naumann R., Mohm J., Reuner U., Kroschinsky F., Rautenstrauss B., and Ehninger G. (2001) Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. Br. J. Haematol. 115, 323-325.
-
(2001)
Br. J. Haematol.
, vol.115
, pp. 323-325
-
-
Naumann, R.1
Mohm, J.2
Reuner, U.3
Kroschinsky, F.4
Rautenstrauss, B.5
Ehninger, G.6
-
42
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
-
Nelis E., Van Broeckhoven C., De Jonghe P., et al. (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4, 25-33.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
-
43
-
-
0033554348
-
Mutation testing in Charcot-Marie-Tooth neuropathy
-
Nicholson G. A. (1999) Mutation testing in Charcot-Marie-Tooth neuropathy. Ann. NY Acad. Sci. 883, 383-388.
-
(1999)
Ann. NY Acad. Sci.
, vol.883
, pp. 383-388
-
-
Nicholson, G.A.1
-
44
-
-
0030035312
-
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses
-
Nicholson G. and Corbett A. (1996) Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J. Neurol. Neurosurg. Psychiatry 61, 43-46.
-
(1996)
J. Neurol. Neurosurg. Psychiatry
, vol.61
, pp. 43-46
-
-
Nicholson, G.1
Corbett, A.2
-
45
-
-
1942422646
-
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
-
Passage E., Norreel J. C., Noack-Fraissignes P., et al. (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nature Medicine 10, 396-401.
-
(2004)
Nature Medicine
, vol.10
, pp. 396-401
-
-
Passage, E.1
Norreel, J.C.2
Noack-Fraissignes, P.3
-
46
-
-
0032589645
-
The Roussy-Levy family: From the original description to the gene
-
Planté-Bordeneuve V., Guiochon-Mantel A., Lacroix C., Lapresle J., and Said G. (1999) The Roussy-Levy family: from the original description to the gene. Ann. Neurol. 46, 770-773.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 770-773
-
-
Planté-Bordeneuve, V.1
Guiochon-Mantel, A.2
Lacroix, C.3
Lapresle, J.4
Said, G.5
-
47
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
-
Raeymaekers P., Timmerman V., Nelis E., et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc. Disord. 1, 93-97.
-
(1991)
Neuromusc. Disord.
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
-
49
-
-
22544457500
-
Axonal Charcot-Marie-Tooth disease: The fog is slowly lifting!
-
Reilly M. M. (2005) Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! Neurology 65, 186, 187.
-
(2005)
Neurology
, vol.65
, pp. 186
-
-
Reilly, M.M.1
-
50
-
-
0035105919
-
A comparison of methods for gene dosage analysis in HMSN type 1
-
Rowland J. S., Barton D. E., and Taylor G. R. (2001) A comparison of methods for gene dosage analysis in HMSN type 1. J. Med. Genet. 38, 90-95.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 90-95
-
-
Rowland, J.S.1
Barton, D.E.2
Taylor, G.R.3
-
51
-
-
0141864610
-
Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies
-
Saifi G. M., Szigeti K., Snipes G. J., Garcia C. A., and Lupski J. R. (2003) Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J. Investig. Med. 51, 261-283.
-
(2003)
J. Investig. Med.
, vol.51
, pp. 261-283
-
-
Saifi, G.M.1
Szigeti, K.2
Snipes, G.J.3
Garcia, C.A.4
Lupski, J.R.5
-
52
-
-
0037432064
-
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
-
Sambuughin N., de Bantel A., McWilliams S., and Sivakumar K. (2003) Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 60, 506-508.
-
(2003)
Neurology
, vol.60
, pp. 506-508
-
-
Sambuughin, N.1
De Bantel, A.2
McWilliams, S.3
Sivakumar, K.4
-
53
-
-
4143145234
-
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation
-
Seeman P., Mazanec R., Huehne K., Suslikova P., Keller O., and Rautenstrauss B. (2004) Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. Neurology 63, 733-735.
-
(2004)
Neurology
, vol.63
, pp. 733-735
-
-
Seeman, P.1
Mazanec, R.2
Huehne, K.3
Suslikova, P.4
Keller, O.5
Rautenstrauss, B.6
-
54
-
-
0032812156
-
X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1)
-
Senderek J., Hermanns B., Bergmann C., et al. (1999) X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1). J. Neurol. Sci. 167, 90-101.
-
(1999)
J. Neurol. Sci.
, vol.167
, pp. 90-101
-
-
Senderek, J.1
Hermanns, B.2
Bergmann, C.3
-
55
-
-
0347185347
-
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
-
Sereda M. W., zu Horste G. M., Suter U., Uzma N., and Nave K. -A. (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nature Med. 9, 1533-1537.
-
(2003)
Nature Med.
, vol.9
, pp. 1533-1537
-
-
Sereda, M.W.1
Zu Horste, G.M.2
Suter, U.3
Uzma, N.4
Nave, K.A.5
-
56
-
-
0041821401
-
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
-
Sevilla T., Cuesta A., Chumillas M. J., et al. (2003) Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126, 2023-2033.
-
(2003)
Brain
, vol.126
, pp. 2023-2033
-
-
Sevilla, T.1
Cuesta, A.2
Chumillas, M.J.3
-
57
-
-
7144264392
-
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
-
Silander K., Meretoja P., Juvonen V., et al. (1998) Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum. Mutat. 12, 59-68.
-
(1998)
Hum. Mutat.
, vol.12
, pp. 59-68
-
-
Silander, K.1
Meretoja, P.2
Juvonen, V.3
-
58
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6, 98-118.
-
(1974)
Clin. Genet.
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
59
-
-
3442885372
-
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH method
-
Slater H., Bruno D., Ren H., et al. (2004) Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum. Mutat. 24, 164-171.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 164-171
-
-
Slater, H.1
Bruno, D.2
Ren, H.3
-
60
-
-
0033596845
-
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
-
Stojkovic T., Latour P., Vandenberghe A., Hurtevent J. F., and Vermersch P. (1999) Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology 52, 1010-1014.
-
(1999)
Neurology
, vol.52
, pp. 1010-1014
-
-
Stojkovic, T.1
Latour, P.2
Vandenberghe, A.3
Hurtevent, J.F.4
Vermersch, P.5
-
61
-
-
33645413010
-
Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management
-
Szigeti K., Garcia C., and Lupski J. R. (2006) Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet. Med. 8, 86-92.
-
(2006)
Genet. Med.
, vol.8
, pp. 86-92
-
-
Szigeti, K.1
Garcia, C.2
Lupski, J.R.3
-
62
-
-
0041335143
-
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation
-
Szigeti K., Saifi G. M., Armstrong D., Belmont J. W., Miller G., and Lupski J. R. (2003) Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann. Neurol. 54, 398-402.
-
(2003)
Ann. Neurol.
, vol.54
, pp. 398-402
-
-
Szigeti, K.1
Saifi, G.M.2
Armstrong, D.3
Belmont, J.W.4
Miller, G.5
Lupski, J.R.6
-
63
-
-
0032866609
-
Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
-
Tabaraud F., Lagrange E., Sindou P., Vandenberghe A., Levy N., and Vallat J. M. (1999) Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 22, 1442-1447.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1442-1447
-
-
Tabaraud, F.1
Lagrange, E.2
Sindou, P.3
Vandenberghe, A.4
Levy, N.5
Vallat, J.M.6
-
64
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H., Boerkoel C. F., John J., et al. (2002) Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat. Genet. 32, 267-272.
-
(2002)
Nat. Genet.
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
-
65
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
Thomas P. K., Marques W. Jr., Davis M. B., et al. (1997) The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120, 465-478.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques Jr., W.2
Davis, M.B.3
-
66
-
-
0030048699
-
Deletion of chromosome 17p11.2 in multifocal neuropathies
-
Tyson J., Malcolm S., Thomas P. K., and Harding A. E. (1996) Deletion of chromosome 17p11.2 in multifocal neuropathies. Ann. Neurol. 39, 180-186.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 180-186
-
-
Tyson, J.1
Malcolm, S.2
Thomas, P.K.3
Harding, A.E.4
-
67
-
-
0029037122
-
Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication
-
Uncini A., Di Guglielmo G., Di Muzio A., et al. (1995) Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication. Muscle Nerve 18, 628-635.
-
(1995)
Muscle Nerve
, vol.18
, pp. 628-635
-
-
Uncini, A.1
Di Guglielmo, G.2
Di Muzio, A.3
-
68
-
-
0034835050
-
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
-
Verhoeven K., Villanova M., Rossi A., Malandrini A., De Jonghe P., and Timmerman V. (2001) Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am. J. Hum. Genet. 69, 889-894.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 889-894
-
-
Verhoeven, K.1
Villanova, M.2
Rossi, A.3
Malandrini, A.4
De Jonghe, P.5
Timmerman, V.6
-
69
-
-
18344399595
-
Charcot-Marie-Tooth disease: An intermediate form
-
Villanova M., Timmerman V., De Jonghe P., et al. (1998) Charcot-Marie-Tooth disease: an intermediate form. Neuromusc. Disord. 8, 392, 393.
-
(1998)
Neuromusc. Disord.
, vol.8
, pp. 392
-
-
Villanova, M.1
Timmerman, V.2
De Jonghe, P.3
-
70
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise C. A., Garcia C. A., Davis S., N. et al. (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet. 53, 853-863.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.3
-
71
-
-
23244443545
-
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations
-
Zhu D., Kennerson M. L., Walizada G., Zucher S., Vance J. M., and Nicholson G. A. (2005) Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations. Neurology 65, 496, 497.
-
(2005)
Neurology
, vol.65
, pp. 496
-
-
Zhu, D.1
Kennerson, M.L.2
Walizada, G.3
Zucher, S.4
Vance, J.M.5
Nicholson, G.A.6
-
72
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Züchner S., Mersiyanova I. V., Muglia M., et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36, 449-451.
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Züchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
-
73
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
Züchner S., Noureddine M., Kennerson M., et al. (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat. Genet. 37, 289-294.
-
(2005)
Nat. Genet.
, vol.37
, pp. 289-294
-
-
Züchner, S.1
Noureddine, M.2
Kennerson, M.3
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