-
1
-
-
0014456191
-
Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy
-
Lyon G. Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy. Acta Neuropathol (Berl) 1969;13:131-142
-
(1969)
Acta Neuropathol (Berl)
, vol.13
, pp. 131-142
-
-
Lyon, G.1
-
2
-
-
0017377998
-
A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies
-
Kennedy WR, Sung JH, Berry JF. A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. Arch Neurol 1977;34:337-345
-
(1977)
Arch Neurol
, vol.34
, pp. 337-345
-
-
Kennedy, W.R.1
Sung, J.H.2
Berry, J.F.3
-
4
-
-
0026544673
-
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
-
Boylan KB, Ferriero DM, Greco CM, et al. Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol 1992;31:337-340
-
(1992)
Ann Neurol
, vol.31
, pp. 337-340
-
-
Boylan, K.B.1
Ferriero, D.M.2
Greco, C.M.3
-
5
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, et al, eds. Philadelphia: WB Saunders
-
Dyck PJ, Chance PF, Lebo RV, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, et al, eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1993:1065-1093
-
(1993)
Peripheral Neuropathy
, pp. 1065-1093
-
-
Dyck, P.J.1
Chance, P.F.2
Lebo, R.V.3
Carney, J.A.4
-
6
-
-
0025779846
-
Infantile hereditary neuropathy with hypomyelination: Report of two siblings with different expressivity
-
Balestrini MR, Cavaletti G, D'Angelo A, Tredici G. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuropediatrics 1991;22: 65-70
-
(1991)
Neuropediatrics
, vol.22
, pp. 65-70
-
-
Balestrini, M.R.1
Cavaletti, G.2
D'Angelo, A.3
Tredici, G.4
-
7
-
-
16044362374
-
Clinical phenotypes of different MPZ (PO) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
-
Warner LE, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (PO) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
-
8
-
-
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
-
9
-
-
0031976053
-
Three novel mutations in the Von Hippel-Lindau tumour suppression gene in Italian patients
-
Mandich P, Montera M, Bellone E, et al. Three novel mutations in the Von Hippel-Lindau tumour suppression gene in Italian patients. Hum Mutat 1998;(Suppl 1):S268-S270
-
(1998)
Hum Mutat
, Issue.SUPPL. 1
-
-
Mandich, P.1
Montera, M.2
Bellone, E.3
-
10
-
-
0023391099
-
Isolation of an integral membrane glycoprotein by chloroform-methanol extraction and C3-reversed-phase high-performance liquid chromatography
-
Brunden KR, Berg CT, Poduslo JF. Isolation of an integral membrane glycoprotein by chloroform-methanol extraction and C3-reversed-phase high-performance liquid chromatography. Anal Biochem 1987;164:474-481
-
(1987)
Anal Biochem
, vol.164
, pp. 474-481
-
-
Brunden, K.R.1
Berg, C.T.2
Poduslo, J.F.3
-
11
-
-
0028244197
-
The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers
-
Ding Y, Brunden KR. The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers. J Biol Chem 1994;269:10764-10770
-
(1994)
J Biol Chem
, vol.269
, pp. 10764-10770
-
-
Ding, Y.1
Brunden, K.R.2
-
12
-
-
0026615047
-
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
-
Giese KP, Martini R, Lemke G, et al. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 1992;71:565-576
-
(1992)
Cell
, vol.71
, pp. 565-576
-
-
Giese, Kp.1
Martini, R.2
Lemke, G.3
-
13
-
-
0029065654
-
Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin
-
Martini R, Mohajeri MH, Kasper S, et al. Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J Neurosci 1995;15:4488-4495
-
(1995)
J Neurosci
, vol.15
, pp. 4488-4495
-
-
Martini, R.1
Mohajeri, M.H.2
Kasper, S.3
-
14
-
-
0028824925
-
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
-
Martini R, Zielasek J, Toyka KV, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 1995;11:281-286
-
(1995)
Nat Genet
, vol.11
, pp. 281-286
-
-
Martini, R.1
Zielasek, J.2
Toyka, K.V.3
-
15
-
-
0028131591
-
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: Identification of new mutations and polymorphisms in the P0 gene
-
Nelis E, Timmerman V, De-Jonghe P, et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 1994;94:653-657
-
(1994)
Hum Genet
, vol.94
, pp. 653-657
-
-
Nelis, E.1
Timmerman, V.2
De-Jonghe, P.3
-
16
-
-
0030246987
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
-
Shapiro L, Doyle JP, Hensley P, et al. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996;17:435-449
-
(1996)
Neuron
, vol.17
, pp. 435-449
-
-
Shapiro, L.1
Doyle, J.P.2
Hensley, P.3
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