-
1
-
-
0344011468
-
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
-
Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 2003;61:1435-1437.
-
(2003)
Neurology
, vol.61
, pp. 1435-1437
-
-
Auer-Grumbach, M.1
Strasser-Fuchs, S.2
Robl, T.3
Windpassinger, C.4
Wagner, K.5
-
2
-
-
0025190682
-
Molecular cloning of cDNAs that encode the chicken P0 protein: Evidence for early expression in avians
-
Barbu M. Molecular cloning of cDNAs that encode the chicken P0 protein: evidence for early expression in avians. J Neurosci Res 1990;25:143-151.
-
(1990)
J Neurosci Res
, vol.25
, pp. 143-151
-
-
Barbu, M.1
-
3
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, 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
Scott, M.O.4
Bone, L.J.5
Paul, D.L.6
-
4
-
-
0033227743
-
Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin:S54P, [GVY129ins]
-
Bissar-Tadmouri N, Gulsen-Parman Y, Latour P, Deymeer F, Serdaroglu P, Vandenberghe A, et al. Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin:S54P, [GVY129ins]. Hum Mutat 1999;14:449.
-
(1999)
Hum Mutat
, vol.14
, pp. 449
-
-
Bissar-Tadmouri, N.1
Gulsen-Parman, Y.2
Latour, P.3
Deymeer, F.4
Serdaroglu, P.5
Vandenberghe, A.6
-
5
-
-
0031290336
-
Charcot-Marie-Tooth disease and related peripheral neuropathies
-
De Jonghe P, Timmerman V, Nelis E, Martin J-J, Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 1997;2:370-387.
-
(1997)
J Peripher Nerv Syst
, vol.2
, pp. 370-387
-
-
De Jonghe, P.1
Timmerman, V.2
Nelis, E.3
Martin, J.-J.4
Van Broeckhoven, C.5
-
6
-
-
0025253083
-
Protein zero of peripheral nerve myelin: Biosynthesis, membrane insertion, and evidence for homotypic interaction
-
D'Urso D, Brophy PJ, Staugaitis SM, Gillespie CS, Frey AB, Stempak JG, et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990;4:449-460.
-
(1990)
Neuron
, vol.4
, pp. 449-460
-
-
D'Urso, D.1
Brophy, P.J.2
Staugaitis, S.M.3
Gillespie, C.S.4
Frey, A.B.5
Stempak, J.G.6
-
7
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors, Philadelphia: WB Saunders;
-
Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p 1094-1136.
-
(1993)
Peripheral neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
8
-
-
0025194356
-
Role of myelin P0 protein as a homophilic adhesion molecule
-
Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GI. Role of myelin P0 protein as a homophilic adhesion molecule. Nature 1990;344:871-872.
-
(1990)
Nature
, vol.344
, pp. 871-872
-
-
Filbin, M.T.1
Walsh, F.S.2
Trapp, B.D.3
Pizzey, J.A.4
Tennekoon, G.I.5
-
9
-
-
0015609956
-
Protein composition of myelin of the peripheral nervous system
-
Greenfield S, Brostoff S, Eylar EH, Morell P. Protein composition of myelin of the peripheral nervous system. J Neurochem 1973;20:1207-1216.
-
(1973)
J Neurochem
, vol.20
, pp. 1207-1216
-
-
Greenfield, S.1
Brostoff, S.2
Eylar, E.H.3
Morell, P.4
-
10
-
-
0027221141
-
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
-
Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993;5:31-34.
-
(1993)
Nat Genet
, vol.5
, pp. 31-34
-
-
Hayasaka, K.1
Himoro, M.2
Sato, W.3
Takada, G.4
Uyemura, K.5
Shimizu, N.6
-
11
-
-
0028074645
-
Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain
-
Kirschner DA, Saavedra RA. Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain. J Neurosci Res 1994;39:63-69.
-
(1994)
J Neurosci Res
, vol.39
, pp. 63-69
-
-
Kirschner, D.A.1
Saavedra, R.A.2
-
12
-
-
0021849731
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
-
Lemke G, Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 1985;40:501-508.
-
(1985)
Cell
, vol.40
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
13
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
de Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
-
14
-
-
0031842421
-
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
-
Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401.
-
(1998)
Neurology
, vol.50
, pp. 1397-1401
-
-
Marrosu, M.G.1
Vaccargiu, S.2
Marrosu, G.3
Vannelli, A.4
Cianchetti, C.5
Muntoni, F.6
-
15
-
-
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, Vandenberghe A, Pham-Dinh D, Dautigny A, 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
Vandenberghe, A.4
Pham-Dinh, D.5
Dautigny, A.6
-
16
-
-
0024352133
-
The myelin proteins of the shark brain are similar to the myelin proteins of the mammalian peripheral nervous system
-
Saavedra RA, Fors L, Aebersold RH, Arden B, Horvath S, Sanders J, et al. The myelin proteins of the shark brain are similar to the myelin proteins of the mammalian peripheral nervous system. J Mol Evol 1989;29:149-156.
-
(1989)
J Mol Evol
, vol.29
, pp. 149-156
-
-
Saavedra, R.A.1
Fors, L.2
Aebersold, R.H.3
Arden, B.4
Horvath, S.5
Sanders, J.6
-
17
-
-
0023664213
-
Complete amino acid sequence of P0 protein in bovine peripheral nerve myelin
-
Sakamoto Y, Kitamura K, Yoshimura K, Nishijima T, Uyemura K. Complete amino acid sequence of P0 protein in bovine peripheral nerve myelin. J Biol Chem 1987;262:4208-4214.
-
(1987)
J Biol Chem
, vol.262
, pp. 4208-4214
-
-
Sakamoto, Y.1
Kitamura, K.2
Yoshimura, K.3
Nishijima, T.4
Uyemura, K.5
-
18
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, et al. Phenotypic clustering in MPZ mutations. Brain 2004;127:371-384.
-
(2004)
Brain
, vol.127
, pp. 371-384
-
-
Shy, M.E.1
Jani, A.2
Krajewski, K.3
Grandis, M.4
Lewis, R.A.5
Li, J.6
-
19
-
-
16844381836
-
Reliability and validity of the CMT neuropathy score as a measure of disability
-
Shy ME, Blake J, Krajewski K, Fuerst R, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214.
-
(2005)
Neurology
, vol.64
, pp. 1209-1214
-
-
Shy, M.E.1
Blake, J.2
Krajewski, K.3
Fuerst, R.4
Laura, M.5
Hahn, A.F.6
-
20
-
-
0027031611
-
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
-
Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-291.
-
(1992)
Nat Genet
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Baas, F.2
Wolterman, R.A.3
Hoogendijk, J.E.4
van den Bosch, N.H.5
Zorn, I.6
-
21
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
McDonald, C.M.4
Keppen, L.5
Koob, K.G.6
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