-
1
-
-
67349116532
-
Charcot-Marie-Tooth disease.
-
Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet 2009: 17 (6): 703-710.
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.6
, pp. 703-710
-
-
Szigeti, K.1
Lupski, J.R.2
-
2
-
-
0027205220
-
Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia.
-
de Visser M. Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia. Neuromuscul Disord 1993: 3: 77-79.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 77-79
-
-
de Visser, M.1
-
3
-
-
0027374931
-
Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication.
-
Wise CA, Garcia CA, Davis SN et al. Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am J Hum Genet 1993: 53: 853-863.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
-
4
-
-
0032789279
-
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
-
Stronach EA, Clark C, Bell C et al. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 1999: 4: 117-122.
-
(1999)
J Peripher Nerv Syst
, vol.4
, pp. 117-122
-
-
Stronach, E.A.1
Clark, C.2
Bell, C.3
-
5
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
-
Bergoffen J, Scherer SS, Wang S et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993: 262: 2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
-
6
-
-
0028131591
-
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
-
Nelis E, Timmerman V, De Jonghe P et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 1994: 94: 653-657.
-
(1994)
Hum Genet
, vol.94
, pp. 653-657
-
-
Nelis, E.1
Timmerman, V.2
De Jonghe, P.3
-
7
-
-
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. 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 1996: 4: 25-33.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
-
8
-
-
33745234241
-
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
-
Szigeti K, Nelis E, Lupski JR. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med 2006: 8: 243-254.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 243-254
-
-
Szigeti, K.1
Nelis, E.2
Lupski, J.R.3
-
9
-
-
39449091574
-
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.
-
Hung CC, Lee CN, Lin CY et al. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison. Electrophoresis 2008: 29: 618-625.
-
(2008)
Electrophoresis
, vol.29
, pp. 618-625
-
-
Hung, C.C.1
Lee, C.N.2
Lin, C.Y.3
-
10
-
-
23944460142
-
17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.
-
Marques W Jr, Freitas MR, Nascimento OJ et al. 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population. J Neurol 2005: 252: 972-979.
-
(2005)
J Neurol
, vol.252
, pp. 972-979
-
-
Marques, W.1
Freitas, M.R.2
Nascimento, O.J.3
-
11
-
-
0034960303
-
Charcot- Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families.
-
Mostacciuolo ML, Righetti E, Zortea M et al. Charcot- Marie-Tooth disease type I and related demyelinating neuropathies: mutation analysis in a large cohort of Italian families. Hum Mutat 2001: 18: 32-41.
-
(2001)
Hum Mutat
, vol.18
, pp. 32-41
-
-
Mostacciuolo, M.L.1
Righetti, E.2
Zortea, M.3
-
12
-
-
0034032649
-
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
-
Erratum in: Hum Mutat 2000: 16: 175.
-
Mersiyanova IV, Ismailov SM, Polyakov AV et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2000: 15: 340-347. Erratum in: Hum Mutat 2000: 16 (2): 175.
-
(2000)
Hum Mutat
, vol.15
, Issue.2
, pp. 340-347
-
-
Mersiyanova, I.V.1
Ismailov, S.M.2
Polyakov, A.V.3
-
13
-
-
0033554348
-
Mutation testing in Charcot-Marie-Tooth neuropathy.
-
Nicholson GA. Mutation testing in Charcot-Marie-Tooth neuropathy. Ann N Y Acad Sci 1999: 883: 383-388.
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 383-388
-
-
Nicholson, G.A.1
-
15
-
-
0344171987
-
Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
-
Castro C, Gómez-Hernandez JM, Silander K, Barrio LC. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J Neurosci 1999: 19: 3752-3760.
-
(1999)
J Neurosci
, vol.19
, pp. 3752-3760
-
-
Castro, C.1
Gómez-Hernandez, J.M.2
Silander, K.3
Barrio, L.C.4
-
16
-
-
0033963213
-
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
-
Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH. Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. J Neurochem 2000: 74: 711-720.
-
(2000)
J Neurochem
, vol.74
, pp. 711-720
-
-
Martin, P.E.1
Mambetisaeva, E.T.2
Archer, D.A.3
George, C.H.4
Evans, W.H.5
-
17
-
-
34247639906
-
New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
-
Floroskufi P, Panas M, Karadima G, Vassilopoulos D. New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype. Muscle Nerve 2007: 35: 667-669.
-
(2007)
Muscle Nerve
, vol.35
, pp. 667-669
-
-
Floroskufi, P.1
Panas, M.2
Karadima, G.3
Vassilopoulos, D.4
-
18
-
-
1642487855
-
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
-
Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 2004: 219: 95-100.
-
(2004)
J Neurol Sci
, vol.219
, pp. 95-100
-
-
Lee, Y.C.1
Soong, B.W.2
Lin, K.P.3
Lee, H.Y.4
Wu, Z.A.5
Kao, K.P.6
-
19
-
-
6044277961
-
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
-
Choi BO, Lee MS, Shin SH et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2004: 24: 185-186.
-
(2004)
Hum Mutat
, vol.24
, pp. 185-186
-
-
Choi, B.O.1
Lee, M.S.2
Shin, S.H.3
-
20
-
-
0031740940
-
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
-
Ikegami T, Lin C, Kato M et al. Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1. Am J Med Genet 1998: 80: 352-355.
-
(1998)
Am J Med Genet
, vol.80
, pp. 352-355
-
-
Ikegami, T.1
Lin, C.2
Kato, M.3
-
21
-
-
0033669908
-
Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
-
Bissar-Tadmouri N, Parman Y, Boutrand L et al. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin Genet 2000: 58: 396-402.
-
(2000)
Clin Genet
, vol.58
, pp. 396-402
-
-
Bissar-Tadmouri, N.1
Parman, Y.2
Boutrand, L.3
-
22
-
-
78650079774
-
Genetic epidemiology of Charcot-Marie-Tooth in the general population.
-
Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol. 2011: 18: 39-48.
-
(2011)
Eur J Neurol
, vol.18
, pp. 39-48
-
-
Braathen, G.J.1
Sand, J.C.2
Lobato, A.3
Hoyer, H.4
Russell, M.B.5
-
23
-
-
32844475488
-
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
-
Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. J Neurol 2006: 253: 263-264.
-
(2006)
J Neurol
, vol.253
, pp. 263-264
-
-
Karadima, G.1
Panas, M.2
Floroskufi, P.3
Kalfakis, N.4
Vassilopoulos, D.5
-
24
-
-
1242292389
-
A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
-
Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D. A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features. J Neurol 2004: 251: 222-223.
-
(2004)
J Neurol
, vol.251
, pp. 222-223
-
-
Karadima, G.1
Panas, M.2
Floroskufi, P.3
Kalfakis, N.4
Vassilopoulos, D.5
-
25
-
-
0032239742
-
Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations.
-
Panas M, Karadimas C, Avramopoulos D, Vassilopoulos D. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. J Neurol Neurosurg Psychiatry 1998: 65: 947-948.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, pp. 947-948
-
-
Panas, M.1
Karadimas, C.2
Avramopoulos, D.3
Vassilopoulos, D.4
-
26
-
-
0031797442
-
Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
-
Nicholson GA, Yeung L, Corbett A. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Neurology 1998: 51: 1412-1416.
-
(1998)
Neurology
, vol.51
, pp. 1412-1416
-
-
Nicholson, G.A.1
Yeung, L.2
Corbett, A.3
-
28
-
-
0030660232
-
Connexin32 and X-linked Charcot-Marie-Tooth disease.
-
Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS. Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 1997: 4: 221-230.
-
(1997)
Neurobiol Dis
, vol.4
, pp. 221-230
-
-
Bone, L.J.1
Deschenes, S.M.2
Balice-Gordon, R.J.3
Fischbeck, K.H.4
Scherer, S.S.5
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