-
1
-
-
0026582414
-
Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I
-
ARAMIDEH M, HOOGENDIJK JE, AALFS CM, 1992. Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I. J Neurol 239: 277-283.
-
(1992)
J Neurol
, vol.239
, pp. 277-283
-
-
Aramideh, M.1
Hoogendijk, J.E.2
Aalfs, C.M.3
-
2
-
-
85030364273
-
Altered assembly of gap junction channels caused by carboxyterminal connexin 32 mutants of CMTX1
-
1998, Sainte Adele, Canada, October 21-24, abstract P54
-
BARIO LC, CASTRO C, GOMEZ JM, 1998. Altered assembly of gap junction channels caused by carboxyterminal connexin 32 mutants of CMTX1. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract P54.
-
(1998)
Third International Conference on CMT Disorders
-
-
Bario, L.C.1
Castro, C.2
Gomez, J.M.3
-
3
-
-
0022874772
-
Localization of X-linked dominant Charcot-Marie-Tooth disease to Xq13
-
BECKETT J, HOLDEN NE, SIMPSON BN, WHITE BN, MACLEOD PM, 1986. Localization of X-linked dominant Charcot-Marie-Tooth disease to Xq13. J Neurogenet 3: 225-231.
-
(1986)
J Neurogenet
, vol.3
, pp. 225-231
-
-
Beckett, J.1
Holden, N.E.2
Simpson, B.N.3
White, B.N.4
Macleod, P.M.5
-
4
-
-
0027502993
-
Linkage localization of X-linked Charcot-Marie-Tooth disease
-
BERGOFFEN J, TROFATTER J, PERICAK-VANCE MA, HAINES JL, CHANCE PF, FISCHBECK KH, 1993a. Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52: 312-318.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 312-318
-
-
Bergoffen, J.1
Trofatter, J.2
Pericak-Vance, M.A.3
Haines, J.L.4
Chance, P.F.5
Fischbeck, K.H.6
-
5
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
BERGOFFEN J, SCHERER SS, WANG S, OROZNI SCOTT M, BONE LJ, PAUL DL, CHEN K, LENSCH MW, CHANCE PF, FISCHBECK KH, 1993b. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Orozni Scott, M.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
6
-
-
0019849046
-
Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy
-
BIRD TD, GRIEP E, 1981. Pattern reversal visual evoked potentials. Studies in Charcot-Marie-Tooth hereditary neuropathy. Arch Neurol 38: 739-741.
-
(1981)
Arch Neurol
, vol.38
, pp. 739-741
-
-
Bird, T.D.1
Griep, E.2
-
7
-
-
0029431669
-
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease
-
BONE LJ, DAHL N, LENSCH MW, CHANCE PF, KELLY T, LE GUERN E, MAGI S, PARRY G, SHAPIRO H, WANG S, FISCHBECK KH, 1995. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866.
-
(1995)
Neurology
, vol.45
, pp. 1863-1866
-
-
Bone, L.J.1
Dahl, N.2
Lensch, M.W.3
Chance, P.F.4
Kelly, T.5
Le Guern, E.6
Magi, S.7
Parry, G.8
Shapiro, H.9
Wang, S.10
Fischbeck, K.H.11
-
8
-
-
0030660232
-
Connexin32 and X-linked Charcot-Marie-Tooth disease
-
BONE LJ, DESCHÊNES SM, BALICE-GORDON RJ, FISCHBECK KH, SCHERER SS, 1997. Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 4: 221-230.
-
(1997)
Neurobiol Dis
, vol.4
, pp. 221-230
-
-
Bone, L.J.1
Deschênes, S.M.2
Balice-Gordon, R.J.3
Fischbeck, K.H.4
Scherer, S.S.5
-
9
-
-
0030919434
-
Mutational analysis of the MPZ, PMP22, and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
-
BORT S, NELIS E, TIMMERMAN V, SEVILLA T, CRUZ-MARTINEZ A, MARTINEZ F, MILLAN JM, ARPA J, VILCHEZ JJ, PRIETO F, VAN BROECKHOVEN C, PALAU F, 1997. Mutational analysis of the MPZ, PMP22, and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 99: 746-754.
-
(1997)
Hum Genet
, vol.99
, pp. 746-754
-
-
Bort, S.1
Nelis, E.2
Timmerman, V.3
Sevilla, T.4
Cruz-Martinez, A.5
Martinez, F.6
Millan, J.M.7
Arpa, J.8
Vilchez, J.J.9
Prieto, F.10
Van Broeckhoven, C.11
Palau, F.12
-
10
-
-
85030361348
-
Connexin 32 in the peripheral nervous system. Functional analysis of CMTX1 mutations and implications for the disease
-
1998, Sainte Adele, Canada, October 21-24, abstract 24
-
BRUZZONE R, 1998. Connexin 32 in the peripheral nervous system. Functional analysis of CMTX1 mutations and implications for the disease. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract 24.
-
(1998)
Third International Conference on CMT Disorders
-
-
Bruzzone, R.1
-
11
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
BRUZZONE R, WHITE TW, SCHERER SS, FISCHBECK KH, PAUL DL, 1994. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13: 1253-1260.
-
(1994)
Neuron
, vol.13
, pp. 1253-1260
-
-
Bruzzone, R.1
White, T.W.2
Scherer, S.S.3
Fischbeck, K.H.4
Paul, D.L.5
-
12
-
-
85030365011
-
Mechanisms of channel formation altered by mutations at the connexin 32 carboxy-terminal domain
-
Key Largo, abstract 17
-
CASTRO C, BARIO LC, 1997. Mechanisms of channel formation altered by mutations at the connexin 32 carboxy-terminal domain. Gap Junction International Conference, Key Largo, abstract 17.
-
(1997)
Gap Junction International Conference
-
-
Castro, C.1
Bario, L.C.2
-
14
-
-
0026780731
-
Mutational analysis of gap junction formation
-
DAHL G, WERNER R, LEVINE E, RABADAN-DIEHL C, 1992. Mutational analysis of gap junction formation. Biophys J 62: 187-195.
-
(1992)
Biophys J
, vol.62
, pp. 187-195
-
-
Dahl, G.1
Werner, R.2
Levine, E.3
Rabadan-Diehl, C.4
-
15
-
-
0030723591
-
Altered trafficking of mutant connexin32
-
DESCHÊNES SM, WALCOTT JL, WEXLER TI, SCHERER SS, FISCHBECK KH, 1997. Altered trafficking of mutant connexin32. J Neurosci 17: 9077-9084.
-
(1997)
J Neurosci
, vol.17
, pp. 9077-9084
-
-
Deschênes, S.M.1
Walcott, J.L.2
Wexler, T.I.3
Scherer, S.S.4
Fischbeck, K.H.5
-
16
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia, W. B. Saunders
-
DYCK PJ, CHANCE PF, LEBO RV, CARNEY JA, 1993. Hereditary motor and sensory neuropathies. In: Dyck PJ, Griffin JW, Low PA, Poduslo JF, eds. Peripheral Neuropathy. 3rd edn. Philadelphia, W. B. Saunders. 1094-1136.
-
(1993)
Peripheral Neuropathy. 3rd Edn.
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.F.2
Lebo, R.V.3
Carney, J.A.4
-
17
-
-
0028014579
-
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease
-
FAIRWEATHER N, BELL C, COCHRANE S, CHELLY J, WANG S, MOSTACCIUOLO ML, MONACO AP, HAITES NE, 1994. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease. Hum Mol Genet 3: 29-34.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 29-34
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
Chelly, J.4
Wang, S.5
Mostacciuolo, M.L.6
Monaco, A.P.7
Haites, N.E.8
-
18
-
-
0022514979
-
X-linked neuropathy: Gene localization with DNA probes
-
FISCHBECK KH, AR-RUSHDI N, PERICAK-VANCE M, ROZEAR M, ROSES AD, FRYNS JP, 1986. X-linked neuropathy: gene localization with DNA probes. Ann Neurol 20: 527-532.
-
(1986)
Ann Neurol
, vol.20
, pp. 527-532
-
-
Fischbeck, K.H.1
Ar-Rushdi, N.2
Pericak-Vance, M.3
Rozear, M.4
Roses, A.D.5
Fryns, J.P.6
-
19
-
-
85030368707
-
Connexin and X-linked CMT disease
-
1998, Sante Adele, Canada, October 21-24, abstract 7
-
FISCHBECK K, ABEL A, LIN G, BONE L, 1998. Connexin and X-linked CMT disease, Third International Conference on CMT Disorders, 1998, Sante Adele, Canada, October 21-24, abstract 7.
-
(1998)
Third International Conference on CMT Disorders
-
-
Fischbeck, K.1
Abel, A.2
Lin, G.3
Bone, L.4
-
20
-
-
0021908106
-
X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq
-
GAL A, MUCKE J, THEILE H, WEIACKER PF, ROPERS HH, WIENKER TF, 1985. X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70: 38-42.
-
(1985)
Hum Genet
, vol.70
, pp. 38-42
-
-
Gal, A.1
Mucke, J.2
Theile, H.3
Weiacker, P.F.4
Ropers, H.H.5
Wienker, T.F.6
-
21
-
-
0023758255
-
A linkage study of the locus for X-linked Charcot-Marie-Tooth disease
-
GOONEWARDENA P, WELINHINDA J, ANVRET M, GYFTODIMOU J, HAEGERMARK A, ISELIUS L, LINKSTEN J, PETERSSON U, 1988. A linkage study of the locus for X-linked Charcot-Marie-Tooth disease. Clin Genet 33: 435-440.
-
(1988)
Clin Genet
, vol.33
, pp. 435-440
-
-
Goonewardena, P.1
Welinhinda, J.2
Anvret, M.3
Gyftodimou, J.4
Haegermark, A.5
Iselius, L.6
Linksten, J.7
Petersson, U.8
-
22
-
-
85030362668
-
Genotype/phenotype correlations in CMTX1
-
1998, Sainte Adele, Canada, October 21-24, abstract 48
-
HAHN A, BOLTON CHF, WHITE C, TAN C, AINSWORTH PJ, 1998. Genotype/phenotype correlations in CMTX1. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract 48.
-
(1998)
Third International Conference on CMT Disorders
-
-
Hahn, A.1
Bolton, C.H.F.2
White, C.3
Tan, C.4
Ainsworth, P.J.5
-
23
-
-
0024375182
-
Linkage in a family with X-linked Charcot-Marie-Tooth disease
-
HAITES N, FAIRWEATHER N, CLARK C, KELLY KF, SIMPSON S, JOHNSTON AW, 1989. Linkage in a family with X-linked Charcot-Marie-Tooth disease. Clin Genet 35: 399-403.
-
(1989)
Clin Genet
, vol.35
, pp. 399-403
-
-
Haites, N.1
Fairweather, N.2
Clark, C.3
Kelly, K.F.4
Simpson, S.5
Johnston, A.W.6
-
24
-
-
0028847995
-
Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
-
IONASESCU V, 1995. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 18: 267-275.
-
(1995)
Muscle Nerve
, vol.18
, pp. 267-275
-
-
Ionasescu, V.1
-
25
-
-
0023708417
-
X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family: Genetic linkage study
-
IONASESCU V, BURNS TL, SEARBY CH, IONASESCU R, 1988. X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family: genetic linkage study. Muscle Nerve 11: 1154-1156.
-
(1988)
Muscle Nerve
, vol.11
, pp. 1154-1156
-
-
Ionasescu, V.1
Burns, T.L.2
Searby, C.H.3
Ionasescu, R.4
-
26
-
-
0026609592
-
Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy
-
IONASESCU V, TROFATTER J, HAINES JL, IONASESCU R, SEARBY CH, 1992. Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 42: 903-908.
-
(1992)
Neurology
, vol.42
, pp. 903-908
-
-
Ionasescu, V.1
Trofatter, J.2
Haines, J.L.3
Ionasescu, R.4
Searby, C.H.5
-
27
-
-
0028088839
-
Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
IONASESCU V, SEARBY CH, IONASESCU R, 1994. Point mutations of the connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 2: 355-358.
-
(1994)
Hum Mol Genet
, vol.2
, pp. 355-358
-
-
Ionasescu, V.1
Searby, C.H.2
Ionasescu, R.3
-
28
-
-
0029977888
-
Correlations between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth Neuropathy
-
IONASESCU V, IONASESCU R, SEARBY CH, 1996. Correlations between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth Neuropathy. Am J Med Genet 63: 486-491.
-
(1996)
Am J Med Genet
, vol.63
, pp. 486-491
-
-
Ionasescu, V.1
Ionasescu, R.2
Searby, C.H.3
-
29
-
-
0030896412
-
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
JANSSEN EAM, KEMP S, HENSELS GW, SIE OG, DE DIESMULDERS CEM, HOOGENDIJK JE, DE VISSER M, BOLHUIS PA, 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
Sie, O.G.4
De Diesmulders, C.E.M.5
Hoogendijk, J.E.6
De Visser, M.7
Bolhuis, P.A.8
-
30
-
-
0020480189
-
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes
-
KUNKEL LM, TANTRAVAHI V, EISENHARD M, LATT SA, 1982. Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res 10: 1557-1578.
-
(1982)
Nucleic Acids Res
, vol.10
, pp. 1557-1578
-
-
Kunkel, L.M.1
Tantravahi, V.2
Eisenhard, M.3
Latt, S.A.4
-
31
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
LATHROP GM, LALOUEL JM, JULIER C, OTT J, 1984. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81: 3443-3446.
-
(1984)
Proc Natl Acad Sci USA
, vol.81
, pp. 3443-3446
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
32
-
-
0031014657
-
New mutations in the X-linked form of Charcot-Marie-Tooth disease
-
LATOUR P, FABREGUETTE A, RESSOT C, BLANQUET-GROSSARD F, ANTOINE JC, CALVAS P, CHAPON F, CORBILLON E, STURTZ F, BOUCHERAT M, CHAZOT G, DAUTIGNY A, PHAM-DINH D, VANDENBERGHE A, 1997. New mutations in the X-linked form of Charcot-Marie-Tooth disease. Eur Neurol 37: 38-42.
-
(1997)
Eur Neurol
, vol.37
, pp. 38-42
-
-
Latour, P.1
Fabreguette, A.2
Ressot, C.3
Blanquet-Grossard, F.4
Antoine, J.C.5
Calvas, P.6
Chapon, F.7
Corbillon, E.8
Sturtz, F.9
Boucherat, M.10
Chazot, G.11
Dautigny, A.12
Pham-Dinh, D.13
Vandenberghe, A.14
-
33
-
-
0342381210
-
Electrodiagnostic findings in CMTX1. A disorder of the Schwann cell and peripheral nerve myelin
-
1998, Sainte Adele, Canada, October 21-24, Abstract 46
-
LEWIS RA, SHY M, 1998. Electrodiagnostic findings in CMTX1. A disorder of the Schwann cell and peripheral nerve myelin. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, Abstract 46.
-
(1998)
Third International Conference on CMT Disorders
-
-
Lewis, R.A.1
Shy, M.2
-
34
-
-
0342816181
-
Central nervous system involvement in a new connexin 32 mutation affecting identical twins
-
1998, Sainte Adele, Canada, October 21-24, abstract P21
-
MARQUIS W, JR, SWENEY MG, WROE SJ, WOOD NW, 1998. Central nervous system involvement in a new connexin 32 mutation affecting identical twins. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract P21.
-
(1998)
Third International Conference on CMT Disorders
-
-
Marquis Jr., W.1
Sweney, M.G.2
Wroe, S.J.3
Wood, N.W.4
-
35
-
-
0342381208
-
Clinical, electrophysiological and morphological features of CMTX1
-
1998, Sainte Adele, Canada, October 21-24, abstract P48
-
MIDANI H, KELKAR P, NANCE M, PARRY G, 1998. Clinical, electrophysiological and morphological features of CMTX1. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract P48.
-
(1998)
Third International Conference on CMT Disorders
-
-
Midani, H.1
Kelkar, P.2
Nance, M.3
Parry, G.4
-
36
-
-
0025731521
-
X-linked Charcot-Marie-Tooth disease: A study in a large family using 12 probes of the pericentromeric region
-
MOSTACCIUOLO NE, MILLER E, FARDIN P, MICAGLIO GF, BARDONI B, GUIOLI S, CAMERINO G, DANIELI GA, 1991. X-linked Charcot-Marie-Tooth disease: a study in a large family using 12 probes of the pericentromeric region. Hum Genet 87: 23-27.
-
(1991)
Hum Genet
, vol.87
, pp. 23-27
-
-
Mostacciuolo, N.E.1
Miller, E.2
Fardin, P.3
Micaglio, G.F.4
Bardoni, B.5
Guioli, S.6
Camerino, G.7
Danieli, G.A.8
-
37
-
-
0031021107
-
Mutations analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: Identification of five new mutations
-
NELIS E, SIMOKOVIC S, TIMMERMAN V, LOFGREN A, BACKHOVENS H, DE JONGHE P, MARTIN JJ, VAN BROECKHOVEN C, 1997. Mutations analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. Hum Mutat 9: 47-52.
-
(1997)
Hum Mutat
, vol.9
, pp. 47-52
-
-
Nelis, E.1
Simokovic, S.2
Timmerman, V.3
Lofgren, A.4
Backhovens, H.5
De Jonghe, P.6
Martin, J.J.7
Van Broeckhoven, C.8
-
38
-
-
0030035312
-
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain auditory evoked responses
-
NICHOLSON G, CORBETT A, 1996. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain 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
-
39
-
-
0027723256
-
Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
-
NICHOLSON G, NASH J, 1993. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43: 2558-2564.
-
(1993)
Neurology
, vol.43
, pp. 2558-2564
-
-
Nicholson, G.1
Nash, J.2
-
40
-
-
0030777706
-
Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
-
OH S, RI Y, BENNETT MVL, TREXLER EB, VERSELIS VK, BARGIELLO TA, 1997. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 19: 927-938.
-
(1997)
Neuron
, vol.19
, pp. 927-938
-
-
Oh, S.1
Ri, Y.2
Bennett, M.V.L.3
Trexler, E.B.4
Verselis, V.K.5
Bargiello, T.A.6
-
41
-
-
0029977355
-
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
-
OMORI Y, MESNIL M, YAMASAKI H, 1996. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. Mol Biol Cell 7: 907-916.
-
(1996)
Mol Biol Cell
, vol.7
, pp. 907-916
-
-
Omori, Y.1
Mesnil, M.2
Yamasaki, H.3
-
42
-
-
0028018109
-
A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes
-
RABADAN-DIEHL C, DAHL G, WERNER R, 1994. A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. FEBS Lett 351: 90-94.
-
(1994)
FEBS Lett
, vol.351
, pp. 90-94
-
-
Rabadan-Diehl, C.1
Dahl, G.2
Werner, R.3
-
43
-
-
8944253782
-
X-linked dominant Charcot-Marie-Tooth neuropathy CMTX1: New mutations in the connexin32 gene
-
RESSOT C, LATOUR P, BLANQUET-GROSSARD F, STURTZ F, DUTHEL S, BATTIN J, CORBILLON E, OLLAGNON E, SERVILLE F, VANDENBERGHE A, DAUTIGNY A, PHAM-DINH D, 1996. X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX1: new mutations in the connexin32 gene. Hum Genet 98: 172-175.
-
(1996)
Hum Genet
, vol.98
, pp. 172-175
-
-
Ressot, C.1
Latour, P.2
Blanquet-Grossard, F.3
Sturtz, F.4
Duthel, S.5
Battin, J.6
Corbillon, E.7
Ollagnon, E.8
Serville, F.9
Vandenberghe, A.10
Dautigny, A.11
Pham-Dinh, D.12
-
44
-
-
16944366517
-
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families
-
ROUGET H, LEGUERN E, BIROUK N, GOUIDER R, TARDIEU S, PLASSART E, GUGENHEIM M, VALLAT JM, LOUBOUTIN JP, BOUCHE P, AGID E, BRICE A, 1997. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 10: 443-450.
-
(1997)
Hum Mutat
, vol.10
, pp. 443-450
-
-
Rouget, H.1
Leguern, E.2
Birouk, N.3
Gouider, R.4
Tardieu, S.5
Plassart, E.6
Gugenheim, M.7
Vallat, J.M.8
Louboutin, J.P.9
Bouche, P.10
Agid, E.11
Brice, A.12
-
45
-
-
0031952546
-
Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)
-
SANDER S, NICHOLSON GA, OUVRIER RA, MCLEOD JG, POLLARD JD, 1998. Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). Muscle Nerve 21: 217-225.
-
(1998)
Muscle Nerve
, vol.21
, pp. 217-225
-
-
Sander, S.1
Nicholson, G.A.2
Ouvrier, R.A.3
Mcleod, J.G.4
Pollard, J.D.5
-
46
-
-
0029563471
-
Connexin 32 is a myelin related protein in the PNS and CNS
-
SCHERER SS, DESCHENES SM, XU Y, GRINSPAN JB, FISCHBECK KH, PAUL DL, 1995. Connexin 32 is a myelin related protein in the PNS and CNS. J Neurosci 15: 8281-8294.
-
(1995)
J Neurosci
, vol.15
, pp. 8281-8294
-
-
Scherer, S.S.1
Deschenes, S.M.2
Xu, Y.3
Grinspan, J.B.4
Fischbeck, K.H.5
Paul, D.L.6
-
47
-
-
0032171653
-
Connexin 32 null mice develop demyelinating peripheral neuropathy
-
SCHERER S, FISCHBECK K, BONE L, 1998. Connexin 32 null mice develop demyelinating peripheral neuropathy. Glia 24: 8-20.
-
(1998)
Glia
, vol.24
, pp. 8-20
-
-
Scherer, S.1
Fischbeck, K.2
Bone, L.3
-
48
-
-
0030930298
-
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
-
SILANDER K, MERETOJA P, PIHKO H, JUVONEN V, ISSAKAINEN J, AULA P, SAVONTAUS ML, 1997. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet 100: 391-397.
-
(1997)
Hum Genet
, vol.100
, pp. 391-397
-
-
Silander, K.1
Meretoja, P.2
Pihko, H.3
Juvonen, V.4
Issakainen, J.5
Aula, P.6
Savontaus, M.L.7
-
49
-
-
0029060906
-
X-linked dominant Chercot-Marie-Tooth disease and other peripheral gap-junction diseases of the nervous system
-
SPRAY DC, DERMIETZEL R, 1995. X-linked dominant Chercot-Marie-Tooth disease and other peripheral gap-junction diseases of the nervous system. Trends Neurosci 18: 256-262.
-
(1995)
Trends Neurosci
, vol.18
, pp. 256-262
-
-
Spray, D.C.1
Dermietzel, R.2
-
50
-
-
0029942648
-
Novel mutations in connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease
-
TAN CC, AINSWORTH PJ, HAHN AF, MACLEOD PM, 1996. Novel mutations in connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease. Hum Mutat 7: 167-171.
-
(1996)
Hum Mutat
, vol.7
, pp. 167-171
-
-
Tan, C.C.1
Ainsworth, P.J.2
Hahn, A.F.3
Macleod, P.M.4
-
51
-
-
85030369069
-
Expression of connexin 32-GFP fusion protein in oligodendrocytes
-
Key Largo, abstract 123
-
TEDFORD H, CARSON J, 1997. Expression of connexin 32-GFP fusion protein in oligodendrocytes. Gap Junction International Conference, Key Largo, abstract 123: 94.
-
(1997)
Gap Junction International Conference
, pp. 94
-
-
Tedford, H.1
Carson, J.2
-
53
-
-
85030364483
-
Characterization of targeted connexin 32 deficient mice, a model for CMTX
-
1998, Sainte Adele, Canada, October 21-24, abstract 40
-
WILLECKE K, OTT T, TEMME A, 1998. Characterization of targeted connexin 32 deficient mice, a model for CMTX. Third International Conference on CMT Disorders, 1998, Sainte Adele, Canada, October 21-24, abstract 40.
-
(1998)
Third International Conference on CMT Disorders
-
-
Willecke, K.1
Ott, T.2
Temme, A.3
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