-
1
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: WB Saunders
-
Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: WB Saunders, 1993;1094-1136.
-
(1993)
Peripheral Neuropathy. 3rd Ed.
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
2
-
-
0032706596
-
Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis
-
Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: molecular basis for distinction and diagnosis. Muscle Nerve 1999;22:1498-1509.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1498-1509
-
-
Pareyson, D.1
-
3
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
-
4
-
-
0033208622
-
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
-
Bellone E, Di Maria E, Soriani S, et al. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Hum Mutat 1999;14:353-354.
-
(1999)
Hum Mutat
, vol.14
, pp. 353-354
-
-
Bellone, E.1
Di Maria, E.2
Soriani, S.3
-
5
-
-
0033015744
-
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
-
Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999;52: 1827-1832.
-
(1999)
Neurology
, vol.52
, pp. 1827-1832
-
-
Timmerman, V.1
De Jonghe, P.2
Ceuterick, C.3
-
6
-
-
0001204953
-
Mutations in the Schwann cell transcription factor EGR2/ Krox-20 in patients with severe hereditary neuropathies
-
Abstract
-
Taroni F, Pareyson D, Botti S, Sghirlanzoni A, Nemni R, Riva D. Mutations in the Schwann cell transcription factor EGR2/ Krox-20 in patients with severe hereditary neuropathies. Neurology 1999;52(suppl 2):A258-A259. Abstract.
-
(1999)
Neurology
, vol.52
, Issue.2 SUPPL.
-
-
Taroni, F.1
Pareyson, D.2
Botti, S.3
Sghirlanzoni, A.4
Nemni, R.5
Riva, D.6
-
8
-
-
0025608912
-
Familial trigeminal neuralgia and Charcot-Marie-Tooth neuropathy. Report of two families and review
-
Coffey RJ, Fromm GH. Familial trigeminal neuralgia and Charcot-Marie-Tooth neuropathy. Report of two families and review. Surg Neurol 1991;35:49-53.
-
(1991)
Surg Neurol
, vol.35
, pp. 49-53
-
-
Coffey, R.J.1
Fromm, G.H.2
-
9
-
-
0031044004
-
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome
-
Tyson J, Ellis D, Fairbrother U, et al. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 1997;120:47-63.
-
(1997)
Brain
, vol.120
, pp. 47-63
-
-
Tyson, J.1
Ellis, D.2
Fairbrother, U.3
-
10
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
Thomas PK, Marques W Jr, Davis MB, et al. 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., Jr.2
Davis, M.B.3
|