-
1
-
-
0030031715
-
Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2
-
Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ: Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 1996;19:16-22.
-
(1996)
Muscle Nerve
, vol.19
, pp. 16-22
-
-
Amato, A.A.1
Gronseth, G.S.2
Callerame, K.J.3
Kagan-Hallet, K.S.4
Bryan, W.W.5
Barohn, R.J.6
-
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
-
-
0028264944
-
Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy
-
Felice KJ, Poole RM, Blaivas M, Albers JW: Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur Neurol 1994;34:173-176.
-
(1994)
Eur Neurol
, vol.34
, pp. 173-176
-
-
Felice, K.J.1
Poole, R.M.2
Blaivas, M.3
Albers, J.W.4
-
4
-
-
0029399637
-
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
-
Gouider R, LeGuern E, Gugenheim M, Tardieu BS, Maisonobe T, Léger JM, Vallat JM, Agid Y, Bouche P, Brice A: Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 1995;45:2018-2023.
-
(1995)
Neurology
, vol.45
, pp. 2018-2023
-
-
Gouider, R.1
LeGuern, E.2
Gugenheim, M.3
Tardieu, B.S.4
Maisonobe, T.5
Léger, J.M.6
Vallat, J.M.7
Agid, Y.8
Bouche, P.9
Brice, A.10
-
6
-
-
0024356547
-
Tomaculous neuropathy presenting as acute recurrent polyneuropathy
-
Joy JL, Oh SJ: Tomaculous neuropathy presenting as acute recurrent polyneuropathy. Ann Neurol 1989;26:98-100.
-
(1989)
Ann Neurol
, vol.26
, pp. 98-100
-
-
Joy, J.L.1
Oh, S.J.2
-
7
-
-
0029120562
-
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: A study of 30 unrelated cases
-
LeGuern E, Gouider R, Lopes J, Abbas N, Gugenheim M, Tardieu S, Ravisé N, Léger JM, Vallat JM, Bouche P, Agid Y, Brice A, and the French CMT Collaborative Research Group: Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. Hum Mol Genet 1995;4:1673-1674.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1673-1674
-
-
LeGuern, E.1
Gouider, R.2
Lopes, J.3
Abbas, N.4
Gugenheim, M.5
Tardieu, S.6
Ravisé, N.7
Léger, J.M.8
Vallat, J.M.9
Bouche, P.10
Agid, Y.11
Brice, A.12
-
8
-
-
0026723211
-
Sensorimotor chronic neuropathy in two siblings: Atypical presentation of tomaculous neuropathy
-
Malandrini A, Guazzi GC, Federico A: Sensorimotor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 1992;11:318-322.
-
(1992)
Clin Neuropathol
, vol.11
, pp. 318-322
-
-
Malandrini, A.1
Guazzi, G.C.2
Federico, A.3
-
9
-
-
0029024656
-
Progressive sensorimotor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion
-
Mancardi GL, Mandich P, Nassani S, Schenone A, James R, Defferrari R, Bellone E, Guinchedi M, Ajmar F, Abbruzzese M: Progressive sensorimotor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. J Neurol Sci 1995;131:30-34.
-
(1995)
J Neurol Sci
, vol.131
, pp. 30-34
-
-
Mancardi, G.L.1
Mandich, P.2
Nassani, S.3
Schenone, A.4
James, R.5
Defferrari, R.6
Bellone, E.7
Guinchedi, M.8
Ajmar, F.9
Abbruzzese, M.10
-
10
-
-
0028018240
-
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
-
Mariman ECM, Gabreels-Festen AAWM, van Beersum SEC, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJH, Ropers HH, Gabreels 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
Gabreels-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
Gabreels, F.J.M.9
-
11
-
-
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
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