-
1
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I Neurologic, genetic and electrophysiologic findings in hereditary neuropathies
-
Dyck, P.J., and Lambert, E.H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I Neurologic, genetic and electrophysiologic findings in hereditary neuropathies. Arch. Neurol., 18, 603-618.
-
(1968)
Arch. Neurol.
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
2
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck P.J., Thomas P.J., Griffin J.W., Low P.A., Poduslo J.F. (eds.), Philadelphia: Saunders
-
Dyck, P.J., Chance, P., Lebo, R., and Carney, J.A. (1993) Hereditary motor and sensory neuropathies. In Dyck P.J., Thomas P.J., Griffin J.W., Low P.A., Poduslo J.F. (eds.), Peripheral Neuropathy (3rd ed), Philadelphia: Saunders, pp. 1094-1136.
-
(1993)
Peripheral Neuropathy (3rd Ed)
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
3
-
-
0024510662
-
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17
-
Vance, J.M., Nicholson, G.A., Yamaoka, L.H., Stajich, J., Stewart, C.S., Speer, M.C., Hung, W.Y., Roses, A.D., Barker, D., and Pericak-Vance, M.A. (1989) Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp. Neurol., 104, 186-189.
-
(1989)
Exp. Neurol.
, vol.104
, pp. 186-189
-
-
Vance, J.M.1
Nicholson, G.A.2
Yamaoka, L.H.3
Stajich, J.4
Stewart, C.S.5
Speer, M.C.6
Hung, W.Y.7
Roses, A.D.8
Barker, D.9
Pericak-Vance, M.A.10
-
4
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A., and Patel, P.I. (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
-
5
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
-
Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J.E., Baas, E., Barker, D.F., Martin, J.J., De Visser, M., Bolhuis, P.A., and Van Broeckhoven, C. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a) 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, E.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
6
-
-
0026052072
-
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in Fc receptor gene region
-
Lebo, R.V., Chance, P.F., Dyck, P.J., Redila-Flores, M.T., Lynch, E.D., Golbus, M.S., Bird, T.D., King, M.C., Anderson, L.A., Hall, J., Wiegant, J., Jiang, Z., Dazin, P.F., Punnett, H.H., Schonberg, S.A., Moore, K., Shull, M.M., Gendler, S., Hurko, O., Lovelace, R.E., Latov, N., Trofatter, J., and Conneally, P.M. (1991) Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in Fc receptor gene region. Hum. Genet., 88, 1-12.
-
(1991)
Hum. Genet.
, vol.88
, pp. 1-12
-
-
Lebo, R.V.1
Chance, P.F.2
Dyck, P.J.3
Redila-Flores, M.T.4
Lynch, E.D.5
Golbus, M.S.6
Bird, T.D.7
King, M.C.8
Anderson, L.A.9
Hall, J.10
Wiegant, J.11
Jiang, Z.12
Dazin, P.F.13
Punnett, H.H.14
Schonberg, S.A.15
Moore, K.16
Shull, M.M.17
Gendler, S.18
Hurko, O.19
Lovelace, R.E.20
Latov, N.21
Trofatter, J.22
Conneally, P.M.23
more..
-
7
-
-
0026806349
-
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth Neuropathy type 1 pedigrees: Additional evidence for a third autosomal CMT locus
-
Chance, P.F., Matsunami, N., Lensch, W., Smith, B., and Bird, T.D. (1992) Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth Neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT locus. Neurology, 42, 2037-2041.
-
(1992)
Neurology
, vol.42
, pp. 2037-2041
-
-
Chance, P.F.1
Matsunami, N.2
Lensch, W.3
Smith, B.4
Bird, T.D.5
-
8
-
-
0027359513
-
Screening of dominantly inherited Charcot-Marie-Tooth neuropathies
-
Ionasescu, V., Ionasescu, R., and Searby, Ch. (1993a) Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve, 16, 1232-1238.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1232-1238
-
-
Ionasescu, V.1
Ionasescu, R.2
Searby, Ch.3
-
9
-
-
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, L.T., Loprest, L.J., Wilkinson, K.M., Lennon, F., Rozear, M.P., Stajich, J.M., Gaskell, P.C., Roses, A.D., Pericak-Vance, M.A., and Vance, J.M. (1993) 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
-
10
-
-
0029150128
-
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon, J.M., Elliott, J.L., Woon-chee Yee, Ivanovich, J., Scavarda, N.J., Moolsintong, P.J., and Goodfellow, P.J. (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
Elliott, J.L.2
Yee, W.-C.3
Ivanovich, J.4
Scavarda, N.J.5
Moolsintong, P.J.6
Goodfellow, P.J.7
-
11
-
-
0028356510
-
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
-
Dyck, P.J., Litchy, W.J., Minnerath, S., Bird, T., Chance, P.F., Schaid, D.J., and Aronson, H.E. (1994) Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann. Neurol., 35, 608-615.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 608-615
-
-
Dyck, P.J.1
Litchy, W.J.2
Minnerath, S.3
Bird, T.4
Chance, P.F.5
Schaid, D.J.6
Aronson, H.E.7
-
12
-
-
0030011973
-
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
-
Yoshioka, R., Dyck, P.J., and Chance, P.F. (1996) Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology, 46, 569-571.
-
(1996)
Neurology
, vol.46
, pp. 569-571
-
-
Yoshioka, R.1
Dyck, P.J.2
Chance, P.F.3
-
13
-
-
0025301080
-
Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci
-
Weber, J.L., Kwitek, A.E., May, P.E. (1990) Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci. Nucleic Acids Res. 18, 4039
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 4039
-
-
Weber, J.L.1
Kwitek, A.E.2
May, P.E.3
-
14
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B.J., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E.M., Lupski, J.R. and Suter, 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
Snipes, G.J.6
Garcia, C.A.7
Francke, U.8
Shooter, E.M.9
Lupski, J.R.10
Suter, U.11
-
15
-
-
0026879648
-
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
-
Valentijn, L.J., Bolhuis, P.A., Zorn, I., Hoogendijk, J.E., van den Bosch, N., Hensels, G.W., Stanton, V.P., Housman, D.E., Fischbeck, K.H., Ross, D.A., Nicholson, G.A., Meershock, E.J., Dauwerse, H.G., Van Ommen, G.J.B. and Baas, F. (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet., 1, 166-170.
-
(1992)
Nature Genet.
, vol.1
, pp. 166-170
-
-
Valentijn, L.J.1
Bolhuis, P.A.2
Zorn, I.3
Hoogendijk, J.E.4
Van Den Bosch, N.5
Hensels, G.W.6
Stanton, V.P.7
Housman, D.E.8
Fischbeck, K.H.9
Ross, D.A.10
Nicholson, G.A.11
Meershock, E.J.12
Dauwerse, H.G.13
Van Ommen, G.J.B.14
Baas, F.15
-
16
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
-
Timmerman, V., Nelis, E., Van Hul, W., Nieuwenhuijsen, B.W., Chen, K.L., Wang, S., Ben Othmane, K., Cullen, B., Leach, R.J., Hanemann, C.O., De Jonghe, P., Raeymaekers, P., Van Ommen, G.J.B., Martin, J.J., Muller, H.W., Vance, J.M., Fischbeck, K.H., and Van Broeckhoven, C. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet., 1, 171-175.
-
(1992)
Nature Genet.
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
Nieuwenhuijsen, B.W.4
Chen, K.L.5
Wang, S.6
Ben Othmane, K.7
Cullen, B.8
Leach, R.J.9
Hanemann, C.O.10
De Jonghe, P.11
Raeymaekers, P.12
Van Ommen, G.J.B.13
Martin, J.J.14
Muller, H.W.15
Vance, J.M.16
Fischbeck, K.H.17
Van Broeckhoven, C.18
-
17
-
-
0023239805
-
Activated T cells in type I Charcot-Marie-Tooth disease: Evidence for immunologic heterogeneity
-
Williams, L.L., Shannon, B.T., O'Dougherty, M. and Wright, F.S. (1987) Activated T cells in type I Charcot-Marie-Tooth disease: evidence for immunologic heterogeneity. J. Neuroimmunol., 16, 317-330.
-
(1987)
J. Neuroimmunol.
, vol.16
, pp. 317-330
-
-
Williams, L.L.1
Shannon, B.T.2
O'Dougherty, M.3
Wright, F.S.4
-
18
-
-
0026527424
-
Expression of Schwann cell and peripheral T-cell activation epitopes in hereditary motor and sensory neuropathy
-
Williams, L.L., Kissel, J.T., Shannon, B.T., Wright, F.S. and Mendell, J.R. (1992) Expression of Schwann cell and peripheral T-cell activation epitopes in hereditary motor and sensory neuropathy. J. Neuroimmunol., 36, 147-155.
-
(1992)
J. Neuroimmunol.
, vol.36
, pp. 147-155
-
-
Williams, L.L.1
Kissel, J.T.2
Shannon, B.T.3
Wright, F.S.4
Mendell, J.R.5
-
19
-
-
0027512552
-
Charcot-Marie-Tooth neuropathy type 1A with both duplication and nonduplication
-
Ionasescu, V., Ionasescu, R., Searby, Ch., and Barker, D.F. (1993b) Charcot-Marie-Tooth neuropathy type 1A with both duplication and nonduplication. Hum. Mol. Genet., 2, 405-410.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 405-410
-
-
Ionasescu, V.1
Ionasescu, R.2
Searby, Ch.3
Barker, D.F.4
-
20
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop, G.M., Lalouel, J.M., Julier, C., and 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
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