-
1
-
-
0030979840
-
-
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
-
ANZINI P., NEUBERG D. H. H., SCHACHNER M., NELLES E., WILLECKE K.et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J. Neurosci., 1997, 17: 4545-4551.
-
(1997)
J. Neurosci
, vol.17
, pp. 4545-4551
-
-
ANZINI, P.1
NEUBERG, D.H.H.2
SCHACHNER, M.3
NELLES, E.4
WILLECKE, K.5
-
2
-
-
0032961829
-
-
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene
-
BAHR M., ANDRES F., TIMMERMAN V., NELIS M. E., VAN BROECKHOVEN C.et al. 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. Psychiat., 1999, 66: 202-206.
-
(1999)
J. Neurol. Neurosurg. Psychiat
, vol.66
, pp. 202-206
-
-
BAHR, M.1
ANDRES, F.2
TIMMERMAN, V.3
NELIS, M.E.4
VAN BROECKHOVEN, C.5
-
3
-
-
0030660232
-
S. Connexin32 and X-linked Charcot-Marie-Tooth Disease
-
BONE L. J., DESCHENES S. M., BALICE-GORDON R. J., FISCHBECK K. H., SCHERER S. S. 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.5
-
4
-
-
0031172215
-
-
Oligodendrocytes express gap junction proteins connexin32 and connexin45
-
DERMIETZEL R., FAROOQ M., KESSLER J. A., ALTHAUS H., HERTZBERG E. L.et al. Oligodendrocytes express gap junction proteins connexin32 and connexin45. Glia, 1997, 20: 101-114.
-
(1997)
Glia
, vol.20
, pp. 101-114
-
-
DERMIETZEL, R.1
FAROOQ, M.2
KESSLER, J.A.3
ALTHAUS, H.4
HERTZBERG, E.L.5
-
5
-
-
0034784158
-
-
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
-
DUBOURG O., TARDIEU S., BIROUK N., GUIDER R., LEGER J. M. et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain, 2001, 124: 1958-1967.
-
(2001)
Brain
, vol.124
, pp. 1958-1967
-
-
DUBOURG, O.1
TARDIEU, S.2
BIROUK, N.3
GUIDER, R.4
LEGER, J.M.5
-
6
-
-
0028847995
-
V. Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
-
IONASESCU V. V. Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics. Muscle Nerve, 1995, 18: 267-275.
-
(1995)
Muscle Nerve
, vol.18
, pp. 267-275
-
-
IONASESCU, V.1
-
7
-
-
0036605376
-
-
KLEOPA K. A., YUM S. W., SCHERER S. S. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J. Neurosc Res., 2002, 68: 522-534.
-
KLEOPA K. A., YUM S. W., SCHERER S. S. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J. Neurosc Res., 2002, 68: 522-534.
-
-
-
-
8
-
-
0033058609
-
Central nervous system involvement in a novel connexin 32 mutation affecting identical twins
-
MARQUES J. R., SWEENEY M. G., WOOD N. W., WROE S. J., MARQUES W. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. J. Neurol. Neurosurg. Psychiat., 1999, 66: 803-804.
-
(1999)
J. Neurol. Neurosurg. Psychiat
, vol.66
, pp. 803-804
-
-
MARQUES, J.R.1
SWEENEY, M.G.2
WOOD, N.W.3
WROE, S.J.4
MARQUES, W.5
-
9
-
-
0034984238
-
-
MATSUYAMA W., NAKAGAWA M., MORITOYO T., TAKASHIMA H., UMEHARA F. et al. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32. (GJB1) J. Hum. Genet., 2001, 46: 307-313.
-
MATSUYAMA W., NAKAGAWA M., MORITOYO T., TAKASHIMA H., UMEHARA F. et al. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32. (GJB1) J. Hum. Genet., 2001, 46: 307-313.
-
-
-
-
10
-
-
0031797442
-
Efficient neurophysiologic selection of x-linked Charcot-Marie-Tooth families: Ten novel mutations
-
NICHOLSON G., GARTH 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.1
GARTH, A.2
-
11
-
-
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. Psychiat., 1998, 65: 947-948.
-
(1998)
J. Neurol. Neurosurg. Psychiat
, vol.65
, pp. 947-948
-
-
PANAS, M.1
KARADIMAS, C.2
AVRAMOPOULOS, D.3
VASSILOPOULOS, D.4
-
12
-
-
0036789828
-
-
Transient central nervous system white matter abnormality in x-linked Charcot-Marie-Tooth disease
-
PAULSON H. L., GARBERN J. Y., HOBAN T. F., KRAJEWSKI K. M., LEWIS R. A. et al. Transient central nervous system white matter abnormality in x-linked Charcot-Marie-Tooth disease. Ann. Neurol., 2002, 52: 429-434.
-
(2002)
Ann. Neurol
, vol.52
, pp. 429-434
-
-
PAULSON, H.L.1
GARBERN, J.Y.2
HOBAN, T.F.3
KRAJEWSKI, K.M.4
LEWIS, R.A.5
-
13
-
-
16944366517
-
-
Charcot-Marie-Tooth disease with intermediate motor conduction velocities: Characterization of 14 Cx32 mutations in 35 families
-
ROUGER H., LE GUERN E., BIROUK N., GOUIDER R., TARDIEU S. et al. Charcot-Marie-Tooth disease with intermediate motor conduction velocities: Characterization of 14 Cx32 mutations in 35 families. Human Mut., 1997, 10: 443-452.
-
(1997)
Human Mut
, vol.10
, pp. 443-452
-
-
ROUGER, H.1
LE GUERN, E.2
BIROUK, N.3
GOUIDER, R.4
TARDIEU, S.5
-
14
-
-
0031407462
-
Central motor pathway evaluation using magnetic coil stimulation in hereditary motor and sensory neuropathy type I (HMSN type I, Charcot-Marie-Tooth disease)
-
SARTUCCI F., SAGLIOCCO L., MURRI L. Central motor pathway evaluation using magnetic coil stimulation in hereditary motor and sensory neuropathy type I (HMSN type I, Charcot-Marie-Tooth disease). Int. J. Neurosci., 1997, 92: 145-159.
-
(1997)
Int. J. Neurosci
, vol.92
, pp. 145-159
-
-
SARTUCCI, F.1
SAGLIOCCO, L.2
MURRI, L.3
-
15
-
-
0032171653
-
-
Connexin 32-Null mice develop demyelinating peripheral neuropathy
-
SCHERER S. S., XU Y. T., NELLES E., FISCHBECK K., WILLECKE K. et al. Connexin 32-Null mice develop demyelinating peripheral neuropathy. Glia, 1998, 24: 8-20.
-
(1998)
Glia
, vol.24
, pp. 8-20
-
-
SCHERER, S.S.1
XU, Y.T.2
NELLES, E.3
FISCHBECK, K.4
WILLECKE, K.5
-
16
-
-
0033554936
-
H. Is CMTX an axonopathy?
-
SCHERER S. S., FISCHBECK K. H. Is CMTX an axonopathy? Neurology, 1999, 52: 432-433.
-
(1999)
Neurology
, vol.52
, pp. 432-433
-
-
SCHERER, S.S.1
FISCHBECK, K.2
-
17
-
-
0345600908
-
-
TAYLOR R. A., SIMON E. M., MARKS H. G., SCHERER S. S. The CNS phenotype of X linked Charcot-Marie-Tooth disease. More than a peripheral problem. Neurology, 2003, 61: 1475-1478.
-
TAYLOR R. A., SIMON E. M., MARKS H. G., SCHERER S. S. The CNS phenotype of X linked Charcot-Marie-Tooth disease. More than a peripheral problem. Neurology, 2003, 61: 1475-1478.
-
-
-
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