-
1
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNa duplication/deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-228.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
2
-
-
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: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;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
-
3
-
-
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: 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 Montes 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
-
4
-
-
0028018240
-
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
-
Mariman ECM, Gabreëls-Festen AAWM, van Beersum SEC, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJH, Ropers HH, Gabreëls FJM: Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994;36:650-655.
-
(1994)
Ann Neurol
, vol.36
, pp. 650-655
-
-
Mariman, E.C.M.1
Gabreëls-Festen, A.A.W.M.2
Van Beersum, S.E.C.3
Valentijn, L.J.4
Baas, F.5
Bolhuis, P.A.6
Jongen, P.J.H.7
Ropers, H.H.8
Gabreëls, F.J.M.9
-
5
-
-
0024535546
-
Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy
-
Martinelli P, Fabbri R, Moretto G, Gabellini AS, D'Alessandro R, Rizzuto N: Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy. Eur Neurol 1989;29:61-66.
-
(1989)
Eur Neurol
, vol.29
, pp. 61-66
-
-
Martinelli, P.1
Fabbri, R.2
Moretto, G.3
Gabellini, A.S.4
D'Alessandro, R.5
Rizzuto, N.6
-
7
-
-
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: 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 1996;4:25-33.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
-
8
-
-
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: A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994;6:263-266.
-
(1994)
Nat 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
-
9
-
-
0029995031
-
Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2 deletion
-
Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A: Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2 deletion. Neurology 1996;46: 1133-1137.
-
(1996)
Neurology
, vol.46
, pp. 1133-1137
-
-
Pareyson, D.1
Scaioli, V.2
Taroni, F.3
Botti, S.4
Lorenzetti, D.5
Solari, A.6
Ciano, C.7
Sghirlanzoni, A.8
-
10
-
-
0030000575
-
Mapping of hereditary neuralgic amyotrophy (familial plexus brachialis neuropathy) to distal chromosome 17q
-
Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF: Mapping of hereditary neuralgic amyotrophy (familial plexus brachialis neuropathy) to distal chromosome 17q. Neurology 1996;46:1128-1132.
-
(1996)
Neurology
, vol.46
, pp. 1128-1132
-
-
Pellegrino, J.E.1
Rebbeck, T.R.2
Brown, M.J.3
Bird, T.D.4
Chance, P.F.5
-
11
-
-
1842339269
-
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25
-
Stögbauer F, Young P, Timmerman V, Spoelders P, Ringelstein EB, Van Broeckhoven C, Kurlemann G: Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum Genet 1997;99:685-687.
-
(1997)
Hum Genet
, vol.99
, pp. 685-687
-
-
Stögbauer, F.1
Young, P.2
Timmerman, V.3
Spoelders, P.4
Ringelstein, E.B.5
Van Broeckhoven, C.6
Kurlemann, G.7
-
13
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dyck, PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Philadelphia, Saunders
-
Windebank AJ: Inherited recurrent focal neuropathies, in Dyck, PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy. 3rd ed. Philadelphia, Saunders, 1993, pp 1137-1148.
-
(1993)
Peripheral Neuropathy. 3rd Ed.
, pp. 1137-1148
-
-
Windebank, A.J.1
-
14
-
-
0029846132
-
Four frequently observed polymorphisms in the 3′UTR of the human peripheral myelin protein 22 (PMP22) gene
-
Young P, Wiebusch H, Stögbauer F, Ringelstein EB, Assmann G, Funke H: Four frequently observed polymorphisms in the 3′UTR of the human peripheral myelin protein 22 (PMP22) gene. Clin Genet 1996;49:321-322.
-
(1996)
Clin Genet
, vol.49
, pp. 321-322
-
-
Young, P.1
Wiebusch, H.2
Stögbauer, F.3
Ringelstein, E.B.4
Assmann, G.5
Funke, H.6
-
15
-
-
0031028126
-
A frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies (HNPP)
-
Young P, Wiebusch H, Stögbauer F, Ringelstein EB, Assmann G, Funke H: A frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies (HNPP). Neurology 1997;48:450-452.
-
(1997)
Neurology
, vol.48
, pp. 450-452
-
-
Young, P.1
Wiebusch, H.2
Stögbauer, F.3
Ringelstein, E.B.4
Assmann, G.5
Funke, H.6
|