-
1
-
-
0027317609
-
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
-
Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, Vance JM (1993a) Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17:370-375.
-
(1993)
Genomics
, vol.17
, pp. 370-375
-
-
Ben Othmane, K.1
Middleton, L.T.2
Loprest, L.J.3
Wilkinson, K.M.4
Lennon, F.5
Rozear, M.P.6
Stajich, J.M.7
Gaskell, P.C.8
Roses, A.D.9
Pericak-Vance, M.A.10
Vance, J.M.11
-
2
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blef S, Roses AD, Pericack-Vance MA, Ben Hamida M, Vance JM (1993b) Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 2:1625-1628.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1625-1628
-
-
Ben Othmane, K.1
Hentati, F.2
Lennon, F.3
Ben Hamida, C.4
Blef, S.5
Roses, A.D.6
Pericack-Vance, M.A.7
Ben Hamida, M.8
Vance, J.M.9
-
3
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Beigoffen J, Scherer SS, Wang S, Oronzi Scott M, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Beigoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi 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
-
4
-
-
0030015647
-
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
-
Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5:1051-1054.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1051-1054
-
-
Bolino, A.1
Brancolini, V.2
Bono, F.3
Bruni, A.4
Gambardella, A.5
Romeo, G.6
Quattrone, A.7
Devoto, M.8
-
5
-
-
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, Nehs E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez 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
Nehs, E.2
Timmerman, V.3
Sevilla, T.4
Cruz-Martínez, A.5
Martínez, F.6
Millán, J.M.7
Arpa, J.8
Vílchez, J.J.9
Prieto, F.10
Van Broeckhoven, C.11
Palau, F.12
-
6
-
-
0029974655
-
Connections with connexins: The molecular basis of direct intercellular signaling
-
Bruzzone R, White TW, Paul DL (1996) Connections with connexins: The molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27
-
(1996)
Eur J Biochem
, vol.238
, pp. 1-27
-
-
Bruzzone, R.1
White, T.W.2
Paul, D.L.3
-
7
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with Liability to pressure palsies
-
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD (1993) DNA deletion associated with hereditary neuropathy with Liability to pressure palsies. Cell 72:143-151.
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
8
-
-
0026683603
-
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
-
Corcos IA, Lafrenière RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (1992) Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics 13:479-480.
-
(1992)
Genomics
, vol.13
, pp. 479-480
-
-
Corcos, I.A.1
Lafrenière, R.G.2
Begy, C.R.3
Loch-Caruso, R.4
Willard, H.F.5
Glover, T.W.6
-
10
-
-
0030887142
-
Studies on the effects of altered PMP22 expression during myelination in vitro
-
D'Urso D, Schmalenbach C, Zoidl G, Prior R, Müller HW (1997) Studies on the effects of altered PMP22 expression during myelination in vitro. J Neurosci Res 48:31-42.
-
(1997)
J Neurosci Res
, vol.48
, pp. 31-42
-
-
D'Urso, D.1
Schmalenbach, C.2
Zoidl, G.3
Prior, R.4
Müller, H.W.5
-
11
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy
-
Dyck PJ, Lambert EH (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. Arch Neurol 18:603-625.
-
(1968)
Arch Neurol
, vol.18
, pp. 603-625
-
-
Dyck, P.J.1
Lambert, E.H.2
-
12
-
-
0025085880
-
X-linked dominant hereditary motor and sensory neuropathy
-
Hahn AF, Brown WF, Koopman WJ, Feasby TE (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113:1511-1525.
-
(1990)
Brain
, vol.113
, pp. 1511-1525
-
-
Hahn, A.F.1
Brown, W.F.2
Koopman, W.J.3
Feasby, T.E.4
-
13
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
14
-
-
0025833803
-
Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin
-
Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K (1991) Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin. Biochem Biophys Res Commun 180:515-518.
-
(1991)
Biochem Biophys Res Commun
, vol.180
, pp. 515-518
-
-
Hayasaka, K.1
Nanao, K.2
Tahara, M.3
Sato, W.4
Takada, G.5
Miura, M.6
Uyemura, K.7
-
15
-
-
0027221994
-
Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)
-
Hayasaka K, Himoro M, Wang Y, Takara M, Minoshima S, Shimizu M, Miura M, Uyemura K, Takada G (1993a) Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ). Genomics 17:755-758.
-
(1993)
Genomics
, vol.17
, pp. 755-758
-
-
Hayasaka, K.1
Himoro, M.2
Wang, Y.3
Takara, M.4
Minoshima, S.5
Shimizu, M.6
Miura, M.7
Uyemura, K.8
Takada, G.9
-
16
-
-
0027221141
-
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin PO gene
-
Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993b) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin PO gene. Nature Genet 5:31-34.
-
(1993)
Nature Genet
, vol.5
, pp. 31-34
-
-
Hayasaka, K.1
Himoro, M.2
Sato, W.3
Takada, G.4
Uyemura, K.5
Shimizu, N.6
Bird, T.D.7
Conneally, P.M.8
Chance, P.F.9
-
17
-
-
0027422165
-
0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nature Genet 5:266-268.
-
(1993)
Nature Genet
, vol.5
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaishi, Y.3
Nanao, K.4
Takahashi, T.5
Takada, G.6
Nicholson, G.A.7
Ouvrier, R.A.8
Tachi, N.9
-
18
-
-
0027485541
-
0 gene in a pedigree of Charcot-Marie-Tooth neuropathy type 1
-
0 gene in a pedigree of Charcot-Marie-Tooth neuropathy type 1. Biochem Mol Biol Int 31:169-173.
-
(1993)
Biochem Mol Biol Int
, vol.31
, pp. 169-173
-
-
Himoro, M.1
Yoshikawa, H.2
Matsui, T.3
Mitsui, Y.4
Takahashi, M.5
Kaido, M.6
Nishimura, T.7
Sawaishi, Y.8
Takada, G.9
Hayasaka, K.10
-
19
-
-
0026609592
-
Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu VV, Trofatter J, Haines JL, Ionasescu R, Searby C (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.V.1
Trofatter, J.2
Haines, J.L.3
Ionasescu, R.4
Searby, C.5
-
20
-
-
0028088839
-
Point mutations of the connexin32 (GAB) gene in X-Sinked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu VV, Seatby C, Ionasescu R (1994) Point mutations of the connexin32 (GAB) gene in X-Sinked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355-358.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 355-358
-
-
Ionasescu, V.V.1
Seatby, C.2
Ionasescu, R.3
-
21
-
-
0029054613
-
New point mutations and deletions of the Connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Searby C, Ionasescu R, Meschino W (1995) New point mutations and deletions of the Connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromusc Disord 5:297-299.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 297-299
-
-
Ionasescu, V.1
Searby, C.2
Ionasescu, R.3
Meschino, W.4
-
22
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R (1996a) Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Molec Genet 5:1373-1375.
-
(1996)
Hum Molec Genet
, vol.5
, pp. 1373-1375
-
-
Ionasescu, V.1
Searby, C.2
Sheffield, V.C.3
Roklina, T.4
Nishimura, D.5
Ionasescu, R.6
-
23
-
-
0030029283
-
A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8
-
Ionasescu VV, Kimura J, Searby CC, Smith WL, Ross MA, Ionasescu R (1996b) A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8. Muscle Nerve 19:319-323.
-
(1996)
Muscle Nerve
, vol.19
, pp. 319-323
-
-
Ionasescu, V.V.1
Kimura, J.2
Searby, C.C.3
Smith, W.L.4
Ross, M.A.5
Ionasescu, R.6
-
24
-
-
0029977888
-
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Ionasescu R, Searby C (1996c) Correlation 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.3
-
25
-
-
0030452124
-
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene
-
Ionasescu VV, Searby C, Greenberg SA (1996d) Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene. J Med Genet 33:1048-1049.
-
(1996)
J Med Genet
, vol.33
, pp. 1048-1049
-
-
Ionasescu, V.V.1
Searby, C.2
Greenberg, S.A.3
-
26
-
-
0019076786
-
The P0 glycoprotein of peripheral nerve myelin
-
Ishaque A, Roomi MW, Szymanska I, Kowalski S, Eylar EH (1980) The P0 glycoprotein of peripheral nerve myelin Can J Biochem 58:913-921.
-
(1980)
Can J Biochem
, vol.58
, pp. 913-921
-
-
Ishaque, A.1
Roomi, M.W.2
Szymanska, I.3
Kowalski, S.4
Eylar, E.H.5
-
27
-
-
0030896412
-
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
Janssen EAM, Kemp S, Hensels GW, Sie OG, de Die-Smulders 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 Die-Smulders, C.E.M.5
Hoogendijk, J.E.6
De Visser, M.7
Bolhuis, P.A.8
-
28
-
-
16044365767
-
Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
-
Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RHH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK (1996) Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet 14:217.
-
(1996)
Nature Genet
, vol.14
, pp. 217
-
-
Kalaydjieva, L.1
Hallmayer, J.2
Chandler, D.3
Savov, A.4
Nikolova, A.5
Angelicheva, D.6
King, R.H.H.7
Ishpekova, B.8
Honeyman, K.9
Calafell, F.10
Shmarov, A.11
Petrova, J.12
Turnev, I.13
Hristova, A.14
Moskov, M.15
Stancheva, S.16
Petkova, I.17
Bittles, A.H.18
Georgieva, V.19
Middleton, L.20
Thomas, P.K.21
more..
-
29
-
-
0027221142
-
0 gene in Charcot-Marie-Tooth disease type 1B
-
0 gene in Charcot-Marie-Tooth disease type 1B. Nature Genet 5:35-39.
-
(1993)
Nature Genet
, vol.5
, pp. 35-39
-
-
Kulkens, T.1
Bolhuis, P.A.2
Wolterman, R.A.3
Kemp, S.4
Te Nijenhuis, S.5
Valentijn, L.6
Hensels, G.W.7
Jennekens, F.G.I.8
De Visser, M.9
Hoogendijk, J.E.10
Baas, F.11
-
30
-
-
0023033171
-
Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein
-
Kumar NM, Gilula NB (1986) Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein. J Cell Biol 103 767-776.
-
(1986)
J Cell Biol
, vol.103
, pp. 767-776
-
-
Kumar, N.M.1
Gilula, N.B.2
-
31
-
-
0029150128
-
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon JM, Elliot JL, Yee W-C, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ (1995) Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 57:853-858.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 853-858
-
-
Kwon, J.M.1
Elliot, J.L.2
Yee, W.-C.3
Ivanovich, J.4
Scavarda, N.J.5
Moolsintong, P.J.6
Goodfellow, P.J.7
-
32
-
-
0029009676
-
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B
-
Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broeckhoven C, Vandenberghe A (1995) Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 6:50-54.
-
(1995)
Hum Mutat
, vol.6
, pp. 50-54
-
-
Latour, P.1
Blanquet, F.2
Nelis, E.3
Bonnebouche, C.4
Chapon, F.5
Diraison, P.6
Ollagnon, E.7
Dautigny, A.8
Pham-Dinh, D.9
Chazot, G.10
Boucherat, M.11
Van Broeckhoven, C.12
Vandenberghe, A.13
-
33
-
-
0029849358
-
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
-
LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A (1996) Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet 5:1685-1688.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1685-1688
-
-
LeGuern, E.1
Guilbot, A.2
Kessali, M.3
Ravisé, N.4
Tassin, J.5
Maisonobe, T.6
Grid, D.7
Brice, A.8
-
34
-
-
0021849731
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
-
Lemke G, Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40:501-508.
-
(1985)
Cell
, vol.40
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
35
-
-
0023967387
-
Isolation and analysis of the gene encoding peripheral myelin protein zero
-
Lemke G, Lamar E, Patterson J (1988) Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1:73-83.
-
(1988)
Neuron
, vol.1
, pp. 73-83
-
-
Lemke, G.1
Lamar, E.2
Patterson, J.3
-
36
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
Montes De Oca-Luna, R.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
37
-
-
0020423653
-
Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature
-
Meier C, Moll C (1982) Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature. J Neurol 228:73-95.
-
(1982)
J Neurol
, vol.228
, pp. 73-95
-
-
Meier, C.1
Moll, C.2
-
38
-
-
0031442608
-
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in southwestern Finland
-
Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus M-L (1997) Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in southwestern Finland. Neuromusc Disord 7:529-532
-
(1997)
Neuromusc Disord
, vol.7
, pp. 529-532
-
-
Meretoja, P.1
Silander, K.2
Kalimo, H.3
Aula, P.4
Meretoja, A.5
Savontaus, M.-L.6
-
39
-
-
0024095587
-
Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations
-
Milks LC, Kumar NM, Houghten R, Unwin N, Gilula NB (1988) Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations. EMBO J 7:2967-2975.
-
(1988)
EMBO J
, vol.7
, pp. 2967-2975
-
-
Milks, L.C.1
Kumar, N.M.2
Houghten, R.3
Unwin, N.4
Gilula, N.B.5
-
40
-
-
0028131591
-
0 gene
-
0 gene. Hum Genet 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
Martin, J.-J.7
Van Broeckhoven, C.8
-
41
-
-
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, 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
-
42
-
-
0027723256
-
Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
-
Nicholson GA, 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.A.1
Nash, J.2
-
43
-
-
0028339044
-
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
-
Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, Mcleod JG, Bolhuis PA, Baas F (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nature Genet 6:263-266.
-
(1994)
Nature Genet
, vol.6
, pp. 263-266
-
-
Nicholson, G.A.1
Valentijn, L.J.2
Cherryson, A.K.3
Kennerson, M.L.4
Bragg, T.L.5
DeKroon, R.M.6
Ross, D.A.7
Pollard, J.D.8
Mcleod, J.G.9
Bolhuis, P.A.10
Baas, F.11
-
44
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Surer U (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1:159-165.
-
(1992)
Nature Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
Schoener-Scott, R.4
Trask, B.J.5
Pentao, L.6
Snipes, G.J.7
Garcia, C.A.8
Francke, U.9
Shooter, E.M.10
Lupski, J.R.11
Surer, U.12
-
45
-
-
0029074978
-
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): Additional support that connexin32 is the defect in CMTX1
-
Pericak-Vance MA, Barker DF, Bergoffen J, Chance P, Cochrane S, Dahl N, Exler M-C, Fain PR, Fairweather ND, Fischbeck K, Gal A, Haites N, Ionasescu R, Kennerson ML, Monaco AP, Mostacciuolo M, Nicholson GA, Sillén A, Haines JL (1995) Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): Additional support that connexin32 is the defect in CMTX1. Hum Hered 45:121-128.
-
(1995)
Hum Hered
, vol.45
, pp. 121-128
-
-
Pericak-Vance, M.A.1
Barker, D.F.2
Bergoffen, J.3
Chance, P.4
Cochrane, S.5
Dahl, N.6
Exler, M.-C.7
Fain, P.R.8
Fairweather, N.D.9
Fischbeck, K.10
Gal, A.11
Haites, N.12
Ionasescu, R.13
Kennerson, M.L.14
Monaco, A.P.15
Mostacciuolo, M.16
Nicholson, G.A.17
Sillén, A.18
Haines, J.L.19
-
46
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
-
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C (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
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
47
-
-
0026564694
-
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
-
Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin J-J, Van Broeckhoven C (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 29:5-11.
-
(1992)
J Med Genet
, vol.29
, pp. 5-11
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
Van Hul, W.4
De Jonghe, P.5
Martin, J.-J.6
Van Broeckhoven, C.7
-
48
-
-
8944253782
-
X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin 32 gene
-
Ressot C, Latour P, Blanquet-Grossrad F, Sturtz F, Duthel S, Battin J, Emmanuel C, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D (1996) X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin 32 gene. Hum Genet 98:172-175.
-
(1996)
Hum Genet
, vol.98
, pp. 172-175
-
-
Ressot, C.1
Latour, P.2
Blanquet-Grossrad, F.3
Sturtz, F.4
Duthel, S.5
Battin, J.6
Emmanuel, C.7
Ollagnon, E.8
Serville, F.9
Vandenberghe, A.10
Dautigny, A.11
Pham-Dinh, D.12
-
49
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR (1993a) Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101.
-
(1993)
N Engl J Med
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
Kulpa, D.A.4
Wise, C.A.5
Mueller, J.6
Welcher, A.A.7
Snipes, G.J.8
Shooter, E.M.9
Patel, P.I.10
Lupski, J.R.11
-
50
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
-
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993b) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet 5:269-273.
-
(1993)
Nature Genet
, vol.5
, pp. 269-273
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
51
-
-
13344249760
-
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
-
Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meek JM, Magenis RE, Shaffer LG, Lupski JR (1996) Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy. Hum Genet 97.642-649.
-
(1996)
Hum Genet
, vol.97
, pp. 642-649
-
-
Roa, B.B.1
Greenberg, F.2
Gunaratne, P.3
Sauer, C.M.4
Lubinsky, M.S.5
Kozma, C.6
Meek, J.M.7
Magenis, R.E.8
Shaffer, L.G.9
Lupski, J.R.10
-
52
-
-
0023254209
-
Hereditary motor and sensory neuropathy, X-linked: A half century follow-up
-
Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC, Krendel DA, Graham DG, Dawson DV, Roses AD (1987) Hereditary motor and sensory neuropathy, X-linked: A half century follow-up. Neurology 37:1460-1465.
-
(1987)
Neurology
, vol.37
, pp. 1460-1465
-
-
Rozear, M.P.1
Pericak-Vance, M.A.2
Fischbeck, K.3
Stajich, J.M.4
Gaskell, P.C.5
Krendel, D.A.6
Graham, D.G.7
Dawson, D.V.8
Roses, A.D.9
-
54
-
-
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 M-L (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
-
55
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP22/SR13)
-
Snipes GJ, Suter U, Welcher AA, Shooter EM (1992) Characterization of a novel peripheral nervous system myelin protein (PMP22/SR13). J Cell Biol 117:225-238.
-
(1992)
J Cell Biol
, vol.117
, pp. 225-238
-
-
Snipes, G.J.1
Suter, U.2
Welcher, A.A.3
Shooter, E.M.4
-
56
-
-
0028851362
-
Peripheral myelin protein 22: Facts and hypotheses
-
Suter U, Snipes GJ (1995) Peripheral myelin protein 22: Facts and hypotheses J Neurosci Res 40.145-151.
-
(1995)
J Neurosci Res
, vol.40
, pp. 145-151
-
-
Suter, U.1
Snipes, G.J.2
-
57
-
-
0006363395
-
PMP22 and MPZ point mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD)
-
abstract 1668
-
Taroni F, Botti S, Sghirlanzoni A, Pareyson D (1996) PMP22 and MPZ point mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD). Am J Hum Genet 55:A288,abstract 1668.
-
(1996)
Am J Hum Genet
, vol.55
-
-
Taroni, F.1
Botti, S.2
Sghirlanzoni, A.3
Pareyson, D.4
-
58
-
-
0019729729
-
Immunocytochemical localization of P0 protein in golgi complex membranes and myelin of developing rat Schwann cells
-
Trapp BD, Itoyama Y, Sternberger NH, Quarels RH, Webster H (1981) Immunocytochemical localization of P0 protein in golgi complex membranes and myelin of developing rat Schwann cells. J Cell Biol 90.1-6.
-
(1981)
J Cell Biol
, vol.90
, pp. 1-6
-
-
Trapp, B.D.1
Itoyama, Y.2
Sternberger, N.H.3
Quarels, R.H.4
Webster, H.5
-
59
-
-
0031044004
-
Hereditary demyelinating neuropathy of infancy: A genetically complex syndrome
-
Tyson J, Ellis D, Fairbrother U, King RHM, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK (1997) Hereditary demyelinating neuropathy of infancy: A genetically complex syndrome. Brain 120:47-63.
-
(1997)
Brain
, vol.120
, pp. 47-63
-
-
Tyson, J.1
Ellis, D.2
Fairbrother, U.3
King, R.H.M.4
Muntoni, F.5
Jacobs, J.6
Malcolm, S.7
Harding, A.E.8
Thomas, P.K.9
-
60
-
-
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 NHA, Zorn I, Gabreëls-Festen AAWM, de Visser M, Bolhuis PA (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 2:288-291.
-
(1992)
Nature 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.A.5
Zorn, I.6
Gabreëls-Festen, A.A.W.M.7
De Visser, M.8
Bolhuis, P.A.9
-
62
-
-
16044362374
-
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
-
Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodny EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR (1996) Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451-460.
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
Killian, J.M.4
Kolodny, E.H.5
Karpati, G.6
Carpenter, S.7
Watters, G.V.8
Wheeler, C.9
Witt, D.10
Bodell, A.11
Nelis, E.12
Van Broeckhoven, C.13
Lupski, J.R.14
|