-
1
-
-
0027251339
-
Production and characterization of monoclonal antibodies to the extracellular domain of P0
-
Archelos JJ, Roggenbuck K, Schneider-Schaulies J, Linington C, Toyka KV, Hartung HP: Production and characterization of monoclonal antibodies to the extracellular domain of P0. J Neurosci Res 1993;35:46-53.
-
(1993)
J Neurosci Res
, vol.35
, pp. 46-53
-
-
Archelos, J.J.1
Roggenbuck, K.2
Schneider-Schaulies, J.3
Linington, C.4
Toyka, K.V.5
Hartung, H.P.6
-
2
-
-
0026769342
-
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families
-
Bellone E, Mandich P, Mancardi GL, Schenone A, Uccelli A, Abruzzese M, Sghirlanzoni A, Pareyson D, Ajmar F: Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. J Med Genet 1992;29:492-493.
-
(1992)
J Med Genet
, vol.29
, pp. 492-493
-
-
Bellone, E.1
Mandich, P.2
Mancardi, G.L.3
Schenone, A.4
Uccelli, A.5
Abruzzese, M.6
Sghirlanzoni, A.7
Pareyson, D.8
Ajmar, F.9
-
3
-
-
0030919339
-
Charcot-Marie-Tooth type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
-
Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P: Charcot-Marie-Tooth type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997;120: 813-823.
-
(1997)
Brain
, vol.120
, pp. 813-823
-
-
Birouk, N.1
Gouider, R.2
Le Guern, E.3
Gugenheim, M.4
Tardieu, S.5
Maisonobe, T.6
Le Forestier, N.7
Agid, Y.8
Brice, A.9
Bouche, P.10
-
4
-
-
0027205220
-
Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type 1a
-
de Visser M: Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type 1a. Neuromusc Disord 1993;3:77-79.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 77-79
-
-
De Visser, M.1
-
5
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PJ, Griffin JW, Low PA, Poduslo JF (eds): Philadelphia, Saunders
-
Dyck PJ, Chance P, Lebo R, Carney AJ: Hereditary motor and sensory neuropathies, in Dyck PJ, Thomas PJ, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy. Philadelphia, Saunders, 1993, pp 1094-1136.
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, A.J.4
-
6
-
-
0024457455
-
Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type I
-
Dyck PJ, Karnes JL, Lambert EH: Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type I. Neurology 1989; 39:1302-1308.
-
(1989)
Neurology
, vol.39
, pp. 1302-1308
-
-
Dyck, P.J.1
Karnes, J.L.2
Lambert, E.H.3
-
7
-
-
0029159803
-
Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: Its relation to the demyelinaling peripheral neuropathy CMT1A
-
Fabbretti E, Edomi P, Brancolini C, Schneider C: Apoptotic phenotype induced by overexpression of wild-type gas3/ PMP22: its relation to the demyelinaling peripheral neuropathy CMT1A. Genes Dev 1995;9:1846-1856.
-
(1995)
Genes Dev
, vol.9
, pp. 1846-1856
-
-
Fabbretti, E.1
Edomi, P.2
Brancolini, C.3
Schneider, C.4
-
8
-
-
0030749017
-
Multiple sclerosis associated with duplicated CMT1A: A report of two cases
-
Frasson E, Polo A, Di Summa A, Fabrizi GM, Taioli F, Fiaschi A, Rizzuto N, Moretto G: Multiple sclerosis associated with duplicated CMT1A: a report of two cases. J Neurol Neurosurg Psychiatry 1997;63:413-114.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.63
, pp. 413-1114
-
-
Frasson, E.1
Polo, A.2
Di Summa, A.3
Fabrizi, G.M.4
Taioli, F.5
Fiaschi, A.6
Rizzuto, N.7
Moretto, G.8
-
9
-
-
0026514249
-
Early morphological features in dominantly inherited demyelinaling motor and sensory neuropathy
-
Gabreëls-Festen AAWM, Joosten EMG, Gabreëls FJM, Jennekens FGI, Janssen-van Kempen TW: Early morphological features in dominantly inherited demyelinaling motor and sensory neuropathy. J Neurol Sci 1992;107:145-154.
-
(1992)
J Neurol Sci
, vol.107
, pp. 145-154
-
-
Gabreëls-Festen, A.A.W.M.1
Joosten, E.M.G.2
Gabreëls, F.J.M.3
Jennekens, F.G.I.4
Janssen-van Kempen, T.W.5
-
10
-
-
0028800889
-
Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations
-
Gabreëls-Festen AAWM, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJHM, Gabreëls FJM: Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol 1995;90: 645-649.
-
(1995)
Acta Neuropathol
, vol.90
, pp. 645-649
-
-
Gabreëls-Festen, A.A.W.M.1
Bolhuis, P.A.2
Hoogendijk, J.E.3
Valentijn, L.J.4
Eshuis, E.J.H.M.5
Gabreëls, F.J.M.6
-
11
-
-
0029398501
-
Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type IA duplication
-
Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR: Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type IA duplication. Neurology 1995;45:2090-2093.
-
(1995)
Neurology
, vol.45
, pp. 2090-2093
-
-
Garcia, C.A.1
Malamut, R.E.2
England, J.D.3
Parry, G.S.4
Liu, P.5
Lupski, J.R.6
-
12
-
-
0028230766
-
Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1A sural nerve biopsies
-
Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Müller HW: Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1A sural nerve biopsies. J Neurosci Res 1994;37: 654-659.
-
(1994)
J Neurosci Res
, vol.37
, pp. 654-659
-
-
Hanemann, C.O.1
Stoll, G.2
D'Urso, D.3
Fricke, W.4
Martin, J.J.5
Van Broeckhoven, C.6
Mancardi, G.L.7
Bartke, I.8
Müller, H.W.9
-
13
-
-
0029912334
-
Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A
-
Haney C, Jackson Snipes G, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD: Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J Neuropathol Exp Neurol 1996;55:290-299.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 290-299
-
-
Haney, C.1
Jackson Snipes, G.2
Shooter, E.M.3
Suter, U.4
Garcia, C.5
Griffin, J.W.6
Trapp, B.D.7
-
14
-
-
0028137741
-
Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype
-
Hoogendijk JE, De Visser M, Bolhuis PA, Hart A, Ongerboer De Visser BW: Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994;17:85-90.
-
(1994)
Muscle Nerve
, vol.17
, pp. 85-90
-
-
Hoogendijk, J.E.1
De Visser, M.2
Bolhuis, P.A.3
Hart, A.4
De Ongerboer Visser, B.W.5
-
15
-
-
0022368276
-
Qualitative and quantitative morphology of human sural nerve at different ages
-
Jacobs JM, Love S: Qualitative and quantitative morphology of human sural nerve at different ages. Brain 1985;108:897-924.
-
(1985)
Brain
, vol.108
, pp. 897-924
-
-
Jacobs, J.M.1
Love, S.2
-
16
-
-
0030034214
-
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
-
Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR: Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1996;19:74-78.
-
(1996)
Muscle Nerve
, vol.19
, pp. 74-78
-
-
Killian, J.M.1
Tiwari, P.S.2
Jacobson, S.3
Jackson, R.D.4
Lupski, J.R.5
-
17
-
-
0028872907
-
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
-
Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BA, Abbas NE, Pandolfo M, Di Donato S, Lupski JR: A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 91-98
-
-
Lorenzetti, D.1
Pareyson, D.2
Sghirlanzoni, A.3
Roa, B.A.4
Abbas, N.E.5
Pandolfo, M.6
Di Donato, S.7
Lupski, J.R.8
-
18
-
-
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, Pastel 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
Pastel, P.I.12
-
19
-
-
0028955666
-
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1
-
Mostacciuolo ML, Schiavon F, Angelini C, Miccoli B, Piccolo F, Danieli GA: Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1. Neuroepidemiology 1995;14:49-53.
-
(1995)
Neuroepidemiology
, vol.14
, pp. 49-53
-
-
Mostacciuolo, M.L.1
Schiavon, F.2
Angelini, C.3
Miccoli, B.4
Piccolo, F.5
Danieli, G.A.6
-
20
-
-
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
-
21
-
-
0029908245
-
Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A
-
Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T: Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 1996; 92:454-460.
-
(1996)
Acta Neuropathol
, vol.92
, pp. 454-460
-
-
Nishimura, T.1
Yoshikawa, H.2
Fujimura, H.3
Sakoda, S.4
Yanagihara, T.5
-
22
-
-
0025997898
-
Charcot-Marie-Tooth neuropathy type 1a (CMT1a) is most likely caused by a duplication in chromosome 17p11.2
-
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin J, de Visser M, Bolhuis PA, Van Broeckhoven C: Charcot-Marie-Tooth neuropathy type 1a (CMT1a) is most likely caused by a duplication in chromosome 17p11.2. Neuromusc Disord 1991;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.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
23
-
-
34250080474
-
Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature
-
Rizzuto N, Moretto G, Galiazzo-Rizzuto S: Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature. Itat J Neurol Sci 1993;15:609-617.
-
(1993)
Itat J Neurol Sci
, vol.15
, pp. 609-617
-
-
Rizzuto, N.1
Moretto, G.2
Galiazzo-Rizzuto, S.3
-
24
-
-
0027459799
-
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insight into the biology of the peripheral nervous system
-
Suter U , Welcher AA, Snipes GJ: Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insight into the biology of the peripheral nervous system. Trends Neurosci 1993;16:50-56.
-
(1993)
Trends Neurosci
, vol.16
, pp. 50-56
-
-
Suter, U.1
Welcher, A.A.2
Snipes, G.J.3
-
25
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
Thomas PK, Marques W, Davis MB, Sweeney MG, King RHM, Bradley JL, Muddle JR, Tyson J, Malcom S, Harding AE: The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques, W.2
Davis, M.B.3
Sweeney, M.G.4
King, R.H.M.5
Bradley, J.L.6
Muddle, J.R.7
Tyson, J.8
Malcom, S.9
Harding, A.E.10
-
26
-
-
0029931697
-
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
-
Vallat JM, Sindou P, Preux PM, Tabaraud F, Milor AM, Courarier P, Leguern E, Brice A: Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996;39:813-817.
-
(1996)
Ann Neurol
, vol.39
, pp. 813-817
-
-
Vallat, J.M.1
Sindou, P.2
Preux, P.M.3
Tabaraud, F.4
Milor, A.M.5
Courarier, P.6
Leguern, E.7
Brice, A.8
-
27
-
-
0027374931
-
Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggests a high frequency of the CMT1a duplication
-
Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR: Molecular analysis of unrelated Charcot-Marie-Tooth (CMT) disease patients suggests a high frequency of the CMT1A duplication. Am J Hum Genet 1993;53:853-863.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel, P.I.6
Lupski, J.R.7
-
28
-
-
0028221758
-
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
-
Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T: Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol 1994;35:445-450.
-
(1994)
Ann Neurol
, vol.35
, pp. 445-450
-
-
Yoshikawa, H.1
Nishimura, T.2
Nakatsuji, Y.3
Fujimura, H.4
Himoro, M.5
Hayasaka, K.6
Sakoda, S.7
Yanagihara, T.8
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