-
1
-
-
84882866259
-
The hereditary motor and sensory neuropathies: An overview of the clinical, genetic, electrophysiologic and pathologic features
-
Dyck PJ, ed, 4th ed. Philadelphia: Saunders
-
Shy M, Lupski JR, Chance PF, Klein CJ, Dyck P. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathologic features. In: Dyck PJ, ed. Peripheral neuropathy. 4th ed. Philadelphia: Saunders, 2005:1623-1658.
-
(2005)
Peripheral neuropathy
, pp. 1623-1658
-
-
Shy, M.1
Lupski, J.R.2
Chance, P.F.3
Klein, C.J.4
Dyck, P.5
-
2
-
-
84903029662
-
SSS inherited neuropathies: Clinical, genetic, and biological features
-
Lazzarini RA, ed, London: Elsevier
-
Wrabetz L, Feltri ML, Kleopa K. SSS inherited neuropathies: clinical, genetic, and biological features. In: Lazzarini RA, ed. Myelin biology and disorders. London: Elsevier, 2004:905-952.
-
(2004)
Myelin biology and disorders
, pp. 905-952
-
-
Wrabetz, L.1
Feltri, M.L.2
Kleopa, K.3
-
3
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
-
4
-
-
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, De Jonghe P, et al. 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
De Jonghe, P.3
-
5
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
-
Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51:190-201.
-
(2002)
Ann Neurol
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
-
6
-
-
0035985057
-
Structural and functional diversity of connexin genes in the mouse and human genome
-
Willecke K, Eiberger J, Degen J, et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002;383:725-737.
-
(2002)
Biol Chem
, vol.383
, pp. 725-737
-
-
Willecke, K.1
Eiberger, J.2
Degen, J.3
-
7
-
-
0032563605
-
Functional gap junctions in the Schwann cell myelin sheath
-
Balice-Gordon RJ, Bone LJ, Scherer SS. Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 1998;142:1095-1104.
-
(1998)
J Cell Biol
, vol.142
, pp. 1095-1104
-
-
Balice-Gordon, R.J.1
Bone, L.J.2
Scherer, S.S.3
-
8
-
-
4644307412
-
Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes
-
Kleopa KA, Orthmann JL, Enriquez A, Paul DL, Scherer SS. Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. Glia 2004;47:346-357.
-
(2004)
Glia
, vol.47
, pp. 346-357
-
-
Kleopa, K.A.1
Orthmann, J.L.2
Enriquez, A.3
Paul, D.L.4
Scherer, S.S.5
-
9
-
-
0032171653
-
Connexin32-null mice develop a demyelinating peripheral neuropathy
-
Scherer SS, Xu Y-T, Nelles E, Fischbeck K, Willecke K, Bone LJ. Connexin32-null mice develop a demyelinating peripheral neuropathy. Glia 1998;24:8-20.
-
(1998)
Glia
, vol.24
, pp. 8-20
-
-
Scherer, S.S.1
Xu, Y.-T.2
Nelles, E.3
Fischbeck, K.4
Willecke, K.5
Bone, L.J.6
-
10
-
-
0345600908
-
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem
-
Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003;61:1475-1478.
-
(2003)
Neurology
, vol.61
, pp. 1475-1478
-
-
Taylor, R.A.1
Simon, E.M.2
Marks, H.G.3
Scherer, S.S.4
-
11
-
-
0029977888
-
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Ionasescu R, Searby C. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet 1996;63:486-491.
-
(1996)
Am J Med Genet
, vol.63
, pp. 486-491
-
-
Ionasescu, V.1
Ionasescu, R.2
Searby, C.3
-
12
-
-
0032303465
-
X-linked Charcot-Marie-Tooth disease and connexin32
-
Ionasescu VV. X-linked Charcot-Marie-Tooth disease and connexin32. Cell Biol Int 1998;22:807-813.
-
(1998)
Cell Biol Int
, vol.22
, pp. 807-813
-
-
Ionasescu, V.V.1
-
13
-
-
0031901040
-
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
-
Birouk N, LeGuern E, Maisonobe T, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 1998;50:1074-1082.
-
(1998)
Neurology
, vol.50
, pp. 1074-1082
-
-
Birouk, N.1
LeGuern, E.2
Maisonobe, T.3
-
14
-
-
0034784158
-
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
-
Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 2001;124:1958-1967.
-
(2001)
Brain
, vol.124
, pp. 1958-1967
-
-
Dubourg, O.1
Tardieu, S.2
Birouk, N.3
-
15
-
-
0034577431
-
Clinical and pathological observations in men lacking the gap junction protein connexin 32
-
Hahn AF, Ainsworth PJ, Naus CC, Mao J, Bolton CF. Clinical and pathological observations in men lacking the gap junction protein connexin 32. Muscle Nerve (Suppl) 2000;9:S39-S48.
-
(2000)
Muscle Nerve (Suppl)
, vol.9
-
-
Hahn, A.F.1
Ainsworth, P.J.2
Naus, C.C.3
Mao, J.4
Bolton, C.F.5
-
16
-
-
16844381836
-
Reliability and validity of the CMT neuropathy score as a measure of disability
-
Shy ME, Blake J, Krajewski K, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214.
-
(2005)
Neurology
, vol.64
, pp. 1209-1214
-
-
Shy, M.E.1
Blake, J.2
Krajewski, K.3
-
17
-
-
2442434877
-
Motor unit number estimation by decomposition-enhanced spike-triggered averaging: Control data, test-retest reliability, and contractile level effects
-
Boe SG, Stashuk DW, Doherty TJ. Motor unit number estimation by decomposition-enhanced spike-triggered averaging: control data, test-retest reliability, and contractile level effects. Muscle Nerve 2004;29:693-699.
-
(2004)
Muscle Nerve
, vol.29
, pp. 693-699
-
-
Boe, S.G.1
Stashuk, D.W.2
Doherty, T.J.3
-
18
-
-
0032701130
-
Decomposition and quantitative analysis of clinical electromyographic signals
-
Stashuk DW. Decomposition and quantitative analysis of clinical electromyographic signals. Med Eng Phys 1999;21:389-404.
-
(1999)
Med Eng Phys
, vol.21
, pp. 389-404
-
-
Stashuk, D.W.1
-
19
-
-
0043269863
-
Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease
-
Lewis RA, Li J, Fuerst DR, Shy ME, Krajewski K. Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle Nerve 2003;28:161-167.
-
(2003)
Muscle Nerve
, vol.28
, pp. 161-167
-
-
Lewis, R.A.1
Li, J.2
Fuerst, D.R.3
Shy, M.E.4
Krajewski, K.5
-
20
-
-
1242269793
-
Comparison of conventional and decomposition-enhanced spike triggered averaging techniques
-
Lawson VH, Bromberg MB, Stashuk D. Comparison of conventional and decomposition-enhanced spike triggered averaging techniques. Clin Neurophysiol 2004;115:564-568.
-
(2004)
Clin Neurophysiol
, vol.115
, pp. 564-568
-
-
Lawson, V.H.1
Bromberg, M.B.2
Stashuk, D.3
-
21
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003;4:714-726.
-
(2003)
Nat Rev Neurosci
, vol.4
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
22
-
-
0032518362
-
Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts
-
Sahenk Z, Chen L. Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts. J Neurosci Res 1998;51:174-184.
-
(1998)
J Neurosci Res
, vol.51
, pp. 174-184
-
-
Sahenk, Z.1
Chen, L.2
-
23
-
-
13844255953
-
Transgenic expression of human Connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
-
Scherer SS, Xu Y-T, Messing A, Willecke K, Fischbeck KH, Bone Jeng LJ. Transgenic expression of human Connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci 2005;25:1550-1559.
-
(2005)
J Neurosci
, vol.25
, pp. 1550-1559
-
-
Scherer, S.S.1
Xu, Y.-T.2
Messing, A.3
Willecke, K.4
Fischbeck, K.H.5
Bone Jeng, L.J.6
-
24
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000;123:1516-1527.
-
(2000)
Brain
, vol.123
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
-
25
-
-
0033554328
-
Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease
-
Hahn AF, Bolton CF, White CM, et al. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease. Ann NY Acad Sci 1999;883:366-382.
-
(1999)
Ann NY Acad Sci
, vol.883
, pp. 366-382
-
-
Hahn, A.F.1
Bolton, C.F.2
White, C.M.3
-
26
-
-
0033554359
-
A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female
-
Lin GS, Glass JD, Shumas S, Scherer SS, Fischbeck KH. A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female. Ann NY Acad Sci 1999;883:481-484.
-
(1999)
Ann NY Acad Sci
, vol.883
, pp. 481-484
-
-
Lin, G.S.1
Glass, J.D.2
Shumas, S.3
Scherer, S.S.4
Fischbeck, K.H.5
-
28
-
-
0030723591
-
Altered trafficking of mutant connexin32
-
Deschênes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH. Altered trafficking of mutant connexin32. J Neurosci 1997;17:9077-9084.
-
(1997)
J Neurosci
, vol.17
, pp. 9077-9084
-
-
Deschênes, S.M.1
Walcott, J.L.2
Wexler, T.L.3
Scherer, S.S.4
Fischbeck, K.H.5
-
29
-
-
0030777706
-
Changes in permeability caused by connexin 32 mutations underlie Xlinked Charcot-Marie-Tooth disease
-
Oh S, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA. Changes in permeability caused by connexin 32 mutations underlie Xlinked Charcot-Marie-Tooth disease. Neuron 1997;19:927-938.
-
(1997)
Neuron
, vol.19
, pp. 927-938
-
-
Oh, S.1
Ri, Y.2
Bennett, M.V.3
Trexler, E.B.4
Verselis, V.K.5
Bargiello, T.A.6
-
30
-
-
0033963213
-
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease
-
Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH. Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. J Neurochem 2000;74:711-720.
-
(2000)
J Neurochem
, vol.74
, pp. 711-720
-
-
Martin, P.E.1
Mambetisaeva, E.T.2
Archer, D.A.3
George, C.H.4
Evans, W.H.5
-
31
-
-
0036451762
-
Diverse trafficking abnormalities for connexin32 mutants causing CMTX
-
Yum SW, Kleopa KA, Shumas S, Scherer SS. Diverse trafficking abnormalities for connexin32 mutants causing CMTX. Neurobiol Dis 2002;11:43-52.
-
(2002)
Neurobiol Dis
, vol.11
, pp. 43-52
-
-
Yum, S.W.1
Kleopa, K.A.2
Shumas, S.3
Scherer, S.S.4
-
32
-
-
0344011455
-
Pathogenesis of X-linked Charcot-Marie-Tooth disease: Differential effects of two mutations in connexin 32
-
Abrams CK, Freidin M, Bukauskas F, et al. Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32. J Neurosci 2003;23:10548-10558.
-
(2003)
J Neurosci
, vol.23
, pp. 10548-10558
-
-
Abrams, C.K.1
Freidin, M.2
Bukauskas, F.3
-
33
-
-
1542270715
-
Functional analysis of mutant connexin-32 associated with X-linked dominant Charcot-Marie-Tooth disease
-
Wang H-L, Chang W-T, Yeh T-H, Wu T, Chen M-S, Wu C-Y. Functional analysis of mutant connexin-32 associated with X-linked dominant Charcot-Marie-Tooth disease. Neurobiol Dis 2004;15:361-370.
-
(2004)
Neurobiol Dis
, vol.15
, pp. 361-370
-
-
Wang, H.-L.1
Chang, W.-T.2
Yeh, T.-H.3
Wu, T.4
Chen, M.-S.5
Wu, C.-Y.6
-
34
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 1994;13:1253-1260.
-
(1994)
Neuron
, vol.13
, pp. 1253-1260
-
-
Bruzzone, R.1
White, T.W.2
Scherer, S.S.3
Fischbeck, K.H.4
Paul, D.L.5
-
35
-
-
0032100768
-
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties
-
Ressot C, Gomes D, Dautigny A, Pham-Dinh D, Bruzzone R. Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J Neurosci 1998;18:4063-4075.
-
(1998)
J Neurosci
, vol.18
, pp. 4063-4075
-
-
Ressot, C.1
Gomes, D.2
Dautigny, A.3
Pham-Dinh, D.4
Bruzzone, R.5
-
36
-
-
0034027222
-
Mutations in connexin 32: The molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
-
Abrams CK, Oh S, Ri Y, Bargiello TA. Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev 2000;32:203-214.
-
(2000)
Brain Res Brain Res Rev
, vol.32
, pp. 203-214
-
-
Abrams, C.K.1
Oh, S.2
Ri, Y.3
Bargiello, T.A.4
-
37
-
-
0242302344
-
Counting motor units in chronic motor neuropathies
-
Bromberg MB, Swoboda KJ, Lawson VH. Counting motor units in chronic motor neuropathies. Exp Neurol 2003;184(suppl 1):S53-S57.
-
(2003)
Exp Neurol
, vol.184
, Issue.SUPPL. 1
-
-
Bromberg, M.B.1
Swoboda, K.J.2
Lawson, V.H.3
-
38
-
-
0035145831
-
Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis
-
Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM. Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol (Berl) 2001;101:129-139.
-
(2001)
Acta Neuropathol (Berl)
, vol.101
, pp. 129-139
-
-
Hahn, A.F.1
Ainsworth, P.J.2
Bolton, C.F.3
Bilbao, J.M.4
Vallat, J.M.5
-
39
-
-
0034577431
-
Clinical and pathological observations in men lacking the gap junction protein connexin 32
-
Hahn AF, Ainsworth PJ, Naus CC, Mao J, Bolton CF. Clinical and pathological observations in men lacking the gap junction protein connexin 32. Muscle Nerve 2000;23:S39-S48.
-
(2000)
Muscle Nerve
, vol.23
-
-
Hahn, A.F.1
Ainsworth, P.J.2
Naus, C.C.3
Mao, J.4
Bolton, C.F.5
-
40
-
-
0025085880
-
X-linked dominant hereditary motor and sensory neuropathy
-
Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990;113:1511-1525.
-
(1990)
Brain
, vol.113
, pp. 1511-1525
-
-
Hahn, A.F.1
Brown, W.F.2
Koopman, W.J.3
Feasby, T.E.4
-
41
-
-
0030979840
-
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32
-
Anzini P, Neuberg DH, Schachner M, et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 1997;17:4545-4551.
-
(1997)
J Neurosci
, vol.17
, pp. 4545-4551
-
-
Anzini, P.1
Neuberg, D.H.2
Schachner, M.3
-
42
-
-
13844255953
-
Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
-
Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci 2005;25:1550-1559.
-
(2005)
J Neurosci
, vol.25
, pp. 1550-1559
-
-
Scherer, S.S.1
Xu, Y.T.2
Messing, A.3
Willecke, K.4
Fischbeck, K.H.5
Jeng, L.J.6
-
43
-
-
84903037313
-
Cell biology of myelin assembly
-
Lazzarini RA, ed, New York: Elsevier
-
Trapp BD, Pfeiffer SE, Anitei M, Kidd GJ. Cell biology of myelin assembly. In: Lazzarini RA, ed. Myelin biology and disorders. New York: Elsevier, 2004:29-56.
-
(2004)
Myelin biology and disorders
, pp. 29-56
-
-
Trapp, B.D.1
Pfeiffer, S.E.2
Anitei, M.3
Kidd, G.J.4
-
44
-
-
0038166038
-
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases
-
Shames I, Fraser A, Colby J, Orfali W, Snipes GJ. Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. J Neuropathol Exp Neurol 2003;62:751-764.
-
(2003)
J Neuropathol Exp Neurol
, vol.62
, pp. 751-764
-
-
Shames, I.1
Fraser, A.2
Colby, J.3
Orfali, W.4
Snipes, G.J.5
-
45
-
-
0036605376
-
Cellular mechanisms of connexin32 mutations associated with CNS manifestations
-
Kleopa KA, Yum SW, Scherer SS. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J Neurosci Res 2002;68:522-534.
-
(2002)
J Neurosci Res
, vol.68
, pp. 522-534
-
-
Kleopa, K.A.1
Yum, S.W.2
Scherer, S.S.3
-
46
-
-
0034047183
-
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
-
VanSlyke JK, Deschenes SM, Musil LS. Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins. Mol Biol Cell 2000;11:1933-1946.
-
(2000)
Mol Biol Cell
, vol.11
, pp. 1933-1946
-
-
VanSlyke, J.K.1
Deschenes, S.M.2
Musil, L.S.3
-
47
-
-
0032894049
-
Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
-
Naef R, Suter U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 1999;6:1-14.
-
(1999)
Neurobiol Dis
, vol.6
, pp. 1-14
-
-
Naef, R.1
Suter, U.2
-
48
-
-
0036938636
-
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B
-
Matsuyama W, Nakagawa M, Takashima H, Osame M. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B. Acta Neuropathol (Berl) 2002;103:501-508.
-
(2002)
Acta Neuropathol (Berl)
, vol.103
, pp. 501-508
-
-
Matsuyama, W.1
Nakagawa, M.2
Takashima, H.3
Osame, M.4
-
49
-
-
33645636345
-
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
-
Wrabetz L, DAntonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci 2006;26:2358-2368.
-
(2006)
J Neurosci
, vol.26
, pp. 2358-2368
-
-
Wrabetz, L.1
DAntonio, M.2
Pennuto, M.3
-
51
-
-
26844433577
-
Proteasome-associated proteins: Regulation of a proteolytic machine
-
Schmidt M, Hanna J, Elsasser S, Finley D. Proteasome-associated proteins: regulation of a proteolytic machine. Biol Chem 2005;386:725-737.
-
(2005)
Biol Chem
, vol.386
, pp. 725-737
-
-
Schmidt, M.1
Hanna, J.2
Elsasser, S.3
Finley, D.4
-
52
-
-
0037162451
-
Association of calnexin with mutant peripheral myelin protein-22 ex vivo: A basis for "gain- offunction" ER diseases
-
Dickson KM, Bergeron JJM, Shames I, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain- offunction" ER diseases. Proc Natl Acad Sci USA 2002;99:9852-9857.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 9852-9857
-
-
Dickson, K.M.1
Bergeron, J.J.M.2
Shames, I.3
-
53
-
-
15244340084
-
Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model
-
Fortun J, Li J, Go J, Fenstermaker A, Fletcher BS, Notterpek L. Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. J Neurochem 2005;92:1531-1541.
-
(2005)
J Neurochem
, vol.92
, pp. 1531-1541
-
-
Fortun, J.1
Li, J.2
Go, J.3
Fenstermaker, A.4
Fletcher, B.S.5
Notterpek, L.6
-
54
-
-
26444442450
-
Endoplasmic reticulum stress: Cell life and death decisions
-
Xu C, Bailly-Maitre B, Reed JC. Endoplasmic reticulum stress: cell life and death decisions. J Clin Invest 2005;115:2656-2664.
-
(2005)
J Clin Invest
, vol.115
, pp. 2656-2664
-
-
Xu, C.1
Bailly-Maitre, B.2
Reed, J.C.3
-
55
-
-
0015609956
-
Protein composition of myelin of the peripheral nervous system
-
Greenfield S, Brostoff S, Eylar EH, Morell P. Protein composition of myelin of the peripheral nervous system. J Neurochem 1973;20:1207-1216.
-
(1973)
J Neurochem
, vol.20
, pp. 1207-1216
-
-
Greenfield, S.1
Brostoff, S.2
Eylar, E.H.3
Morell, P.4
-
56
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
-
Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 1992;117:225-238.
-
(1992)
J Cell Biol
, vol.117
, pp. 225-238
-
-
Snipes, G.J.1
Suter, U.2
Welcher, A.A.3
Shooter, E.M.4
-
57
-
-
0026524495
-
Structure and expression of proteolipid protein in the peripheral nervous system
-
Kamholz J, Sessa M, Scherer S, et al. Structure and expression of proteolipid protein in the peripheral nervous system. J Neurosci Res 1992;31:231-244.
-
(1992)
J Neurosci Res
, vol.31
, pp. 231-244
-
-
Kamholz, J.1
Sessa, M.2
Scherer, S.3
-
58
-
-
0037079142
-
The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease
-
Southwood CM, Garbern J, Jiang W, Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 2002;36:585-596.
-
(2002)
Neuron
, vol.36
, pp. 585-596
-
-
Southwood, C.M.1
Garbern, J.2
Jiang, W.3
Gow, A.4
-
59
-
-
0037369640
-
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy
-
Shy ME, Hobson G, Jain M, et al. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 2003;53:354-365.
-
(2003)
Ann Neurol
, vol.53
, pp. 354-365
-
-
Shy, M.E.1
Hobson, G.2
Jain, M.3
-
60
-
-
0029932193
-
Structure of gap junction intercellular channels
-
Yeager M, Nicholson B. Structure of gap junction intercellular channels. Curr Opin Struct Biol 1996;6:183-192.
-
(1996)
Curr Opin Struct Biol
, vol.6
, pp. 183-192
-
-
Yeager, M.1
Nicholson, B.2
|