-
2
-
-
0034065232
-
On the molecular architecture of myelinated fibers
-
Arroyo EJ, Scherer SS (2000) On the molecular architecture of myelinated fibers. Histochem Cell Biol 113:1-18
-
(2000)
Histochem Cell Biol
, vol.113
, pp. 1-18
-
-
Arroyo, E.J.1
Scherer, S.S.2
-
3
-
-
0033749676
-
Molecular domains of myelinated axons
-
Peles E, Salzer JL (2000) Molecular domains of myelinated axons. Curr Opin Neurobiol 10:558-565
-
(2000)
Curr Opin Neurobiol
, vol.10
, pp. 558-565
-
-
Peles, E.1
Salzer, J.L.2
-
4
-
-
0035078628
-
The effect of myelinating Schwann cells on axons
-
Martini R (2001) The effect of myelinating Schwann cells on axons. Muscle Nerve 24:456-466
-
(2001)
Muscle Nerve
, vol.24
, pp. 456-466
-
-
Martini, R.1
-
5
-
-
0033200055
-
Schwann cells and their precursors emerge as major regulators of nerve development
-
Jessen KR, Mirsky R (1999) Schwann cells and their precursors emerge as major regulators of nerve development. Trends Neurosci 22:402-410
-
(1999)
Trends Neurosci
, vol.22
, pp. 402-410
-
-
Jessen, K.R.1
Mirsky, R.2
-
6
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6:98-118
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
7
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds). Saunders, Philadelphia
-
Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp1094-1136
-
(1993)
Peripheral Neuropathy, 3rd Edn.
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
8
-
-
0032948117
-
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
-
Nelis E, Haites N, Van Broeckhoven C (1999) Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 13:11-28
-
(1999)
Hum Mutat
, vol.13
, pp. 11-28
-
-
Nelis, E.1
Haites, N.2
Van Broeckhoven, C.3
-
9
-
-
0032977574
-
Hereditary peripheral neuropathies: Clinical forms, genetics, and molecular mechanisms
-
Warner LE, Garcia CA, Lupski JR (1999) Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med 50:263-275
-
(1999)
Annu Rev Med
, vol.50
, pp. 263-275
-
-
Warner, L.E.1
Garcia, C.A.2
Lupski, J.R.3
-
10
-
-
0034752315
-
Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease
-
Young P, Suter U (2001) Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease. Brain Res Brain Res Rev 36:213-221
-
(2001)
Brain Res Brain Res Rev
, vol.36
, pp. 213-221
-
-
Young, P.1
Suter, U.2
-
11
-
-
0033554307
-
Charcot-Marie-Tooth disease type 2
-
Vance JM (1999) Charcot-Marie-Tooth disease type 2. Ann N Y Acad Sci 883:42-46
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 42-46
-
-
Vance, J.M.1
-
12
-
-
0026605507
-
Trembler mouse carries a point mutation in a myelin gene
-
Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings GS, Sidman RL, Shooter EM (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241-244
-
(1992)
Nature
, vol.356
, pp. 241-244
-
-
Suter, U.1
Welcher, A.A.2
Ozcelik, T.3
Snipes, G.J.4
Kosaras, B.5
Francke, U.6
Billings, G.S.7
Sidman, R.L.8
Shooter, E.M.9
-
13
-
-
0026554289
-
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse
-
Suter U, Moskow JJ, Welcher AA, Snipes GJ, Kosaras B, Sidman RL, Buchberg AM, Shooter EM (1992) A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci USA 89:4382-4386
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4382-4386
-
-
Suter, U.1
Moskow, J.J.2
Welcher, A.A.3
Snipes, G.J.4
Kosaras, B.5
Sidman, R.L.6
Buchberg, A.M.7
Shooter, E.M.8
-
15
-
-
0025773186
-
A myelin protein is encoded by the homologue of a growth arrest-specific gene
-
Welcher AA, Suter U, De Leon M, Snipes GJ, Shooter EM (1991) A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc Natl Acad Sci USA 88:7195-7199
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 7195-7199
-
-
Welcher, A.A.1
Suter, U.2
De Leon, M.3
Snipes, G.J.4
Shooter, E.M.5
-
16
-
-
0025942098
-
Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene
-
Spreyer P, Kuhn G, Hanemann CO, Gillen C, Schaal H, Kuhn R, Lemke G, Muller HW (1991) Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. EMBO J 10:3661-3668
-
(1991)
EMBO J
, vol.10
, pp. 3661-3668
-
-
Spreyer, P.1
Kuhn, G.2
Hanemann, C.O.3
Gillen, C.4
Schaal, H.5
Kuhn, R.6
Lemke, G.7
Muller, H.W.8
-
17
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
-
Snipes GJ, Suter U, Welcher AA, Shooter EM (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 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
-
18
-
-
0029912334
-
Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A
-
Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD (1996) Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J Neuropathol Exp Neurol 55:290-299
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 290-299
-
-
Haney, C.1
Snipes, G.J.2
Shooter, E.M.3
Suter, U.4
Garcia, C.5
Griffin, J.W.6
Trapp, B.D.7
-
19
-
-
0033631414
-
The peripheral myelin protein 22 and epithelial membrane protein family
-
Jetten AM, Suter U (2000) The peripheral myelin protein 22 and epithelial membrane protein family. Prog Nucleic Acid Res Mol Biol 64:97-129
-
(2000)
Prog Nucleic Acid Res Mol Biol
, vol.64
, pp. 97-129
-
-
Jetten, A.M.1
Suter, U.2
-
20
-
-
0027221141
-
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
-
Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 5:31-34
-
(1993)
Nat Genet
, vol.5
, pp. 31-34
-
-
Hayasaka, K.1
Himoro, M.2
Sato, W.3
Takada, G.4
Uyemura, K.5
Shimizu, N.6
Bird, T.D.7
Conneally, P.M.8
Chance, P.F.9
-
21
-
-
16044362374
-
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
-
Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR (1996) Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451-460
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
Killian, J.M.4
Kolodry, E.H.5
Karpati, G.6
Carpenter, S.7
Watters, G.V.8
Wheeler, C.9
Witt, D.10
Bodell, A.11
Nelis, E.12
Van Broeckhoven, C.13
Lupski, J.R.14
-
22
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Scott, M.O.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
23
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
McDonald, C.M.4
Keppen, L.5
Koob, K.G.6
Lupski, J.R.7
-
24
-
-
0031026677
-
Myelin: Keeping nerves well wrapped up
-
Suter U (1997) Myelin: keeping nerves well wrapped up. Curr Biol 7:R21-R23
-
(1997)
Curr Biol
, vol.7
-
-
Suter, U.1
-
25
-
-
0032563605
-
Functional gap junctions in the schwann cell myelin sheath
-
Balice-Gordon RJ, Bone LJ, Scherer SS (1998) Functional gap junctions in the schwann cell myelin sheath. J Cell Biol 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
-
26
-
-
0027984497
-
Krox-20 controls myelination in the peripheral nervous system
-
Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Chamay P (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371:796-799
-
(1994)
Nature
, vol.371
, pp. 796-799
-
-
Topilko, P.1
Schneider-Maunoury, S.2
Levi, G.3
Baron-Van Evercooren, A.4
Chennoufi, A.B.5
Seitanidou, T.6
Babinet, C.7
Chamay, P.8
-
27
-
-
0034981923
-
EGR2 mutations in inherited neuropathies dominantnegatively inhibit myelin gene expression
-
Nagarajan R, Svaren J, Le N, Araki T, Watson M, Milbrandt J (2001) EGR2 mutations in inherited neuropathies dominantnegatively inhibit myelin gene expression. Neuron 30:355-368
-
(2001)
Neuron
, vol.30
, pp. 355-368
-
-
Nagarajan, R.1
Svaren, J.2
Le, N.3
Araki, T.4
Watson, M.5
Milbrandt, J.6
-
28
-
-
0033910767
-
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
-
Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, Jonge R de, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67:47-58
-
(2000)
Am J Hum Genet
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
Heather, L.4
Baas, F.5
De Jonge, R.6
Blechschmidt, K.7
Angelicheva, D.8
Chandler, D.9
Worsley, P.10
Rosenthal, A.11
King, R.H.12
Thomas, P.K.13
-
29
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25:17-19
-
(2000)
Nat Genet
, vol.25
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.5
Georgiou, D.M.6
Christodoulou, K.7
Hausmanowa-Petrusewicz, I.8
Mandich, P.9
Schenone, A.10
Gambardella, A.11
Bono, F.12
Quattrone, A.13
Devoto, M.14
Monaco, A.P.15
-
30
-
-
0035864930
-
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
-
Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M (2001) A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 10:415-421
-
(2001)
Hum Mol Genet
, vol.10
, pp. 415-421
-
-
Guilbot, A.1
Williams, A.2
Ravise, N.3
Verny, C.4
Brice, A.5
Sherman, D.L.6
Brophy, P.J.7
LeGuern, E.8
Delague, V.9
Bareil, C.10
Megarbane, A.11
Claustres, M.12
-
31
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001) Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68:325-333
-
(2001)
Am J Hum Genet
, vol.68
, pp. 325-333
-
-
Boerkoel, C.F.1
Takashima, H.2
Stankiewicz, P.3
Garcia, C.A.4
Leber, S.M.5
Rhee-Morris, L.6
Lupski, J.R.7
-
32
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37-46
-
(2000)
Am J Hum Genet
, vol.67
, pp. 37-46
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
Sitnikov, V.F.4
Dadali, E.L.5
Oparin, R.B.6
Petrin, A.N.7
Evgrafov, O.V.8
-
33
-
-
0033763056
-
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
-
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26:370-374
-
(2000)
Nat Genet
, vol.26
, pp. 370-374
-
-
Bomont, P.1
Cavalier, L.2
Blondeau, F.3
Ben Hamida, C.4
Belal, S.5
Tazir, M.6
Demir, E.7
Topaloglu, H.8
Korinthenberg, R.9
Tuysuz, B.10
Landrieu, P.11
Hentati, F.12
Koenig, M.13
-
34
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
-
Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (2001) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105:587-597
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
Yang, H.W.7
Terada, S.8
Nakata, T.9
Takei, Y.10
Saito, M.11
Tsuji, S.12
Hayashi, Y.13
Hirokawa, N.14
-
35
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Oca Luna RM de, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca Luna, R.M.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
Patel, P.I.12
-
36
-
-
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 (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 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
-
37
-
-
0033554364
-
Molecular mechanisms for CMT1A duplication and HNPP deletion
-
Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR (1999) Molecular mechanisms for CMT1A duplication and HNPP deletion. Ann N Y Acad Sci 883:22-35
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 22-35
-
-
Boerkoel, C.F.1
Inoue, K.2
Reiter, L.T.3
Warner, L.E.4
Lupski, J.R.5
-
38
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1:159-165
-
(1992)
Nat Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
Schoener-Scott, R.4
Trask, B.J.5
Pentao, L.6
Snipes, G.J.7
Garcia, C.A.8
Francke, U.9
Shooter, E.M.10
-
39
-
-
0026879838
-
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
-
Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1:176-179
-
(1992)
Nat Genet
, vol.1
, pp. 176-179
-
-
Matsunami, N.1
Smith, B.2
Ballard, L.3
Lensch, M.W.4
Robertson, M.5
Albertsen, H.6
Hanemann, C.O.7
Muller, H.W.8
Bird, T.D.9
White, R.10
-
40
-
-
0026879615
-
The peripheral myelin protein gene PMP22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
-
Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al (1992) The peripheral myelin protein gene PMP22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1:171-175
-
(1992)
Nat Genet
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
Nieuwenhuijsen, B.W.4
Chen, K.L.5
Wang, S.6
Ben Othman, K.7
Cullen, B.8
Leach, R.J.9
Hanemann, C.O.10
-
41
-
-
0026879648
-
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
-
Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, Bosch N van den, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, et al (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1:166-170
-
(1992)
Nat Genet
, vol.1
, pp. 166-170
-
-
Valentijn, L.J.1
Bolhuis, P.A.2
Zorn, I.3
Hoogendijk, J.E.4
Van den Bosch, N.5
Hensels, G.W.6
Stanton V.P., Jr.7
Housman, D.E.8
Fischbeck, K.H.9
Ross, D.A.10
-
42
-
-
0029931697
-
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
-
Vallat JM, Sindou P, Preux PM, Tabaraud F, Milor AM, Couratier P, LeGuern E, Brice A (1996) Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 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
Couratier, P.6
LeGuern, E.7
Brice, A.8
-
43
-
-
0029843863
-
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
-
Magyar JP, Martini R, Ruelicke T, Aguzzi A, Adlkofer K, Dembic Z, Zielasek J, Toyka KV, Suter U (1996) Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci 16:5351-5360
-
(1996)
J Neurosci
, vol.16
, pp. 5351-5360
-
-
Magyar, J.P.1
Martini, R.2
Ruelicke, T.3
Aguzzi, A.4
Adlkofer, K.5
Dembic, Z.6
Zielasek, J.7
Toyka, K.V.8
Suter, U.9
-
44
-
-
0029877942
-
Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
-
Huxley C, Passage E, Manson A, Putzu G, Figarella-Branger D, Pellissier JF, Fontes M (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 5:563-569
-
(1996)
Hum Mol Genet
, vol.5
, pp. 563-569
-
-
Huxley, C.1
Passage, E.2
Manson, A.3
Putzu, G.4
Figarella-Branger, D.5
Pellissier, J.F.6
Fontes, M.7
-
45
-
-
0035011907
-
Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model
-
Norreel JC, Jamon M, Riviere G, Passage E, Fontes M, Clarac F (2001) Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model. Eur J Neurosci 13:1625-1634
-
(2001)
Eur J Neurosci
, vol.13
, pp. 1625-1634
-
-
Norreel, J.C.1
Jamon, M.2
Riviere, G.3
Passage, E.4
Fontes, M.5
Clarac, F.6
-
46
-
-
0032815826
-
Distal axonopathy in peripheral nerves of PMP22-mutant mice
-
Sancho S, Magyar JP, Aguzzi A, Suter U (1999) Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain 122:1563-1577
-
(1999)
Brain
, vol.122
, pp. 1563-1577
-
-
Sancho, S.1
Magyar, J.P.2
Aguzzi, A.3
Suter, U.4
-
47
-
-
0035173786
-
Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A
-
Sancho S, Young P, Suter U (2001) Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A. Brain 124:2177-2187
-
(2001)
Brain
, vol.124
, pp. 2177-2187
-
-
Sancho, S.1
Young, P.2
Suter, U.3
-
48
-
-
15844393894
-
A rat transgenic model for Charcot-Marie-Tooth disease
-
Sereda M, Griffiths I, Puhlhofer A, Stewart H, Rossner MJ, Zimmermann F, Magyar JP, Schneider A, Hund E, Meinck H-M, Suter U, Nave KA (1996) A rat transgenic model for Charcot-Marie-Tooth disease. Neuron 16:1049-1060
-
(1996)
Neuron
, vol.16
, pp. 1049-1060
-
-
Sereda, M.1
Griffiths, I.2
Puhlhofer, A.3
Stewart, H.4
Rossner, M.J.5
Zimmermann, F.6
Magyar, J.P.7
Schneider, A.8
Hund, E.9
Meinck, H.-M.10
Suter, U.11
Nave, K.A.12
-
49
-
-
0034212644
-
Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22
-
Niemann S, Sereda MW, Suter U, Griffiths IR, Nave KA (2000) Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22. J Neurosci 20:4120-4128
-
(2000)
J Neurosci
, vol.20
, pp. 4120-4128
-
-
Niemann, S.1
Sereda, M.W.2
Suter, U.3
Griffiths, I.R.4
Nave, K.A.5
-
50
-
-
0034950348
-
PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A
-
Nobbio L, Mancardi G, Grandis M, Levi G, Suter U, Nave KA, Windebank AJ, Abbruzzese M, Schenone A (2001) PMP22 transgenic dorsal root ganglia cultures show myelin abnormalities similar to those of human CMT1A. Ann Neurol 50:47-55
-
(2001)
Ann Neurol
, vol.50
, pp. 47-55
-
-
Nobbio, L.1
Mancardi, G.2
Grandis, M.3
Levi, G.4
Suter, U.5
Nave, K.A.6
Windebank, A.J.7
Abbruzzese, M.8
Schenone, A.9
-
51
-
-
0031031995
-
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease
-
LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A (1997) Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 41:104-108
-
(1997)
Ann Neurol
, vol.41
, pp. 104-108
-
-
LeGuern, E.1
Gouider, R.2
Mabin, D.3
Tardieu, S.4
Birouk, N.5
Parent, P.6
Bouche, P.7
Brice, A.8
-
52
-
-
0034211017
-
Small axons relative to number of myelin lamellae in Charcot-Marie-Tooth disease 1A with peripheral myelin protein 22 gene duplication
-
Ohnishi A, Yamamoto T, Ikeda M (2000) Small axons relative to number of myelin lamellae in Charcot-Marie-Tooth disease 1A with peripheral myelin protein 22 gene duplication. J Uoeh 22:107-117
-
(2000)
J Uoeh
, vol.22
, pp. 107-117
-
-
Ohnishi, A.1
Yamamoto, T.2
Ikeda, M.3
-
53
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000) Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123:1516-1527
-
(2000)
Brain
, vol.123
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
Kamholz, J.7
Shy, M.E.8
-
54
-
-
0033963592
-
Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy
-
Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME (2000) Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain 123:222-233
-
(2000)
Brain
, vol.123
, pp. 222-233
-
-
Kamholz, J.1
Menichella, D.2
Jani, A.3
Garbern, J.4
Lewis, R.A.5
Krajewski, K.M.6
Lilien, J.7
Scherer, S.S.8
Shy, M.E.9
-
55
-
-
0034843654
-
Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene
-
Hai M, Bidichandani SI, Hogan ME, Patel PI (2001) Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. Antisense Nucleic Acid Drug Dev 11:233-246
-
(2001)
Antisense Nucleic Acid Drug Dev
, vol.11
, pp. 233-246
-
-
Hai, M.1
Bidichandani, S.I.2
Hogan, M.E.3
Patel, P.I.4
-
56
-
-
0033665302
-
Mouse genetics in cell biology
-
Mansuy IM, Suter U (2000) Mouse genetics in cell biology. Exp Physiol 85:661-679
-
(2000)
Exp Physiol
, vol.85
, pp. 661-679
-
-
Mansuy, I.M.1
Suter, U.2
-
57
-
-
0035339043
-
Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A
-
Perea J, Robertson A, Tolmachova T, Muddle J, King RH, Ponsford S, Thomas PK, Huxley C (2001) Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 10:1007-1018
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1007-1018
-
-
Perea, J.1
Robertson, A.2
Tolmachova, T.3
Muddle, J.4
King, R.H.5
Ponsford, S.6
Thomas, P.K.7
Huxley, C.8
-
58
-
-
0028339044
-
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
-
Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 6:263-266
-
(1994)
Nat Genet
, vol.6
, pp. 263-266
-
-
Nicholson, G.A.1
Valentijn, L.J.2
Cherryson, A.K.3
Kennerson, M.L.4
Bragg, T.L.5
DeKroon, R.M.6
Ross, D.A.7
Pollard, J.D.8
McLeod, J.G.9
Bolhuis, P.A.10
-
59
-
-
0031028126
-
A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies
-
Young P, Wiebusch H, Stogbauer F, Ringelstein B, Assmann G, Funke H (1997) A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology 48:450-452
-
(1997)
Neurology
, vol.48
, pp. 450-452
-
-
Young, P.1
Wiebusch, H.2
Stogbauer, F.3
Ringelstein, B.4
Assmann, G.5
Funke, H.6
-
60
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dyck PJ, Thomas PK, Grffin JW, Low PA, Poduslo JF (eds). Saunders, Philadelphia
-
Windebank AJ (1993) Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Grffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy, 3rd edn. Saunders, Philadelphia, pp 1137-1148
-
(1993)
Peripheral Neuropathy, 3rd Edn.
, pp. 1137-1148
-
-
Windebank, A.J.1
-
61
-
-
0027269567
-
Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study
-
Verhagen WI, Gabreels-Festen AA, Wensen PJ van, Joosten EM, Vingerhoets HM, Gabreels FJ, Graaf R de (1993) Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci 116:176-184
-
(1993)
J Neurol Sci
, vol.116
, pp. 176-184
-
-
Verhagen, W.I.1
Gabreels-Festen, A.A.2
Van Wensen, P.J.3
Joosten, E.M.4
Vingerhoets, H.M.5
Gabreels, F.J.6
De Graaf, R.7
-
62
-
-
0030031715
-
Tomaculous neuropathy: A clinical and electrophysiological study in patients with and with-out 1.5-Mb deletions in chromosome 17p11.2
-
Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ (1996) Tomaculous neuropathy: a clinical and electrophysiological study in patients with and with-out 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 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
-
63
-
-
0034013018
-
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies
-
Sander S, Ouvrier RA, McLeod JG, Nicholson GA, Pollard JD (2000) Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 68:483-488
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.68
, pp. 483-488
-
-
Sander, S.1
Ouvrier, R.A.2
McLeod, J.G.3
Nicholson, G.A.4
Pollard, J.D.5
-
64
-
-
0343067099
-
Hereditary recurrent focal neuropathies: Clinical and molecular features
-
Stogbauer F, Young P, Kuhlenbaumer G, De Jonghe P, Timmerman V (2000) Hereditary recurrent focal neuropathies: clinical and molecular features. Neurology 54.546-551
-
(2000)
Neurology
, vol.54
, pp. 546-551
-
-
Stogbauer, F.1
Young, P.2
Kuhlenbaumer, G.3
De Jonghe, P.4
Timmerman, V.5
-
65
-
-
0028784820
-
Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
-
Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 11:274-280
-
(1995)
Nat Genet
, vol.11
, pp. 274-280
-
-
Adlkofer, K.1
Martini, R.2
Aguzzi, A.3
Zielasek, J.4
Toyka, K.V.5
Suter, U.6
-
66
-
-
0030994297
-
Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
-
Adlkofer K, Frei R, Neuberg DH, Zielasek J, Toyka KV, Suter U (1997) Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci 17:4662-4671
-
(1997)
J Neurosci
, vol.17
, pp. 4662-4671
-
-
Adlkofer, K.1
Frei, R.2
Neuberg, D.H.3
Zielasek, J.4
Toyka, K.V.5
Suter, U.6
-
67
-
-
0030440916
-
A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies
-
Maycox PR, Ortuno D, Burrola P, Kuhn R, Bieri PL, Arrezo JC, Lemke G (1997) A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies. Mol Cell Neurosci 8:405-416
-
(1997)
Mol Cell Neurosci
, vol.8
, pp. 405-416
-
-
Maycox, P.R.1
Ortuno, D.2
Burrola, P.3
Kuhn, R.4
Bieri, P.L.5
Arrezo, J.C.6
Lemke, G.7
-
68
-
-
0031290336
-
Charcot-Marie-Tooth disease and related peripheral neuropathies
-
De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C (1997) Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 2:370-387
-
(1997)
J Peripher Nerv Syst
, vol.2
, pp. 370-387
-
-
De Jonghe, P.1
Timmerman, V.2
Nelis, E.3
Martin, J.J.4
Van Broeckhoven, C.5
-
69
-
-
0028800889
-
Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations
-
Gabreels-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreels FJ (1995) Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (Berl) 90:645-649
-
(1995)
Acta Neuropathol (Berl)
, vol.90
, pp. 645-649
-
-
Gabreels-Festen, A.A.1
Bolhuis, P.A.2
Hoogendijk, J.E.3
Valentijn, L.J.4
Eshuis, E.J.5
Gabreels, F.J.6
-
70
-
-
0030452124
-
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene
-
Ionasescu VV, Searby C, Greenberg SA (1996) Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. J Med Genet 33:1048-1049
-
(1996)
J Med Genet
, vol.33
, pp. 1048-1049
-
-
Ionasescu, V.V.1
Searby, C.2
Greenberg, S.A.3
-
71
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, et al (1993) Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
-
(1993)
N Engl J Med
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
Kulpa, D.A.4
Wise, C.A.5
Mueller, J.6
Welcher, A.A.7
Snipes, G.J.8
Shooter, E.M.9
Patel, P.I.10
-
72
-
-
0028788494
-
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene
-
Ionasescu VV, Ionasescu R, Searby C, Neahring R (1995) Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology 45:1766-1767
-
(1995)
Neurology
, vol.45
, pp. 1766-1767
-
-
Ionasescu, V.V.1
Ionasescu, R.2
Searby, C.3
Neahring, R.4
-
73
-
-
0027031611
-
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
-
Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, Bosch NH van den, Zorn I, Gabreels-Festen AW, Visser M de, Bolhuis PA (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2:288-291
-
(1992)
Nat Genet
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Baas, F.2
Wolterman, R.A.3
Hoogendijk, J.E.4
Van den Bosch, N.H.5
Zorn, I.6
Gabreels-Festen, A.W.7
De Visser, M.8
Bolhuis, P.A.9
-
74
-
-
0031032932
-
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene
-
Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R (1997) Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve 20:97-99
-
(1997)
Muscle Nerve
, vol.20
, pp. 97-99
-
-
Ionasescu, V.V.1
Searby, C.C.2
Ionasescu, R.3
Chatkupt, S.4
Patel, N.5
Koenigsberger, R.6
-
75
-
-
0027459799
-
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
-
Suter U, Welcher AA, Snipes GJ (1993) Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci 16:50-56
-
(1993)
Trends Neurosci
, vol.16
, pp. 50-56
-
-
Suter, U.1
Welcher, A.A.2
Snipes, G.J.3
-
76
-
-
0028902548
-
Biology and genetics of hereditary motor and sensory neuropathies
-
Suter U, Snipes GJ (1995) Biology and genetics of hereditary motor and sensory neuropathies. Annu Rev Neurosci 18:45-75
-
(1995)
Annu Rev Neurosci
, vol.18
, pp. 45-75
-
-
Suter, U.1
Snipes, G.J.2
-
77
-
-
0030991166
-
Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy
-
Notterpek L, Shooter EM, Snipes GJ (1997) Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. J Neurosci 17:4190-4200
-
(1997)
J Neurosci
, vol.17
, pp. 4190-4200
-
-
Notterpek, L.1
Shooter, E.M.2
Snipes, G.J.3
-
78
-
-
0030996714
-
Abnormal Schwann cell/axon interactions in the Trembler-J mouse
-
Robertson AM, King RH, Muddle JR, Thomas PK (1997) Abnormal Schwann cell/axon interactions in the Trembler-J mouse. J Anat 190:423-432
-
(1997)
J Anat
, vol.190
, pp. 423-432
-
-
Robertson, A.M.1
King, R.H.2
Muddle, J.R.3
Thomas, P.K.4
-
79
-
-
0032758859
-
Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice
-
Robertson AM, Huxley C, King RH, Thomas PK (1999) Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice. J Anat 195:331-339
-
(1999)
J Anat
, vol.195
, pp. 331-339
-
-
Robertson, A.M.1
Huxley, C.2
King, R.H.3
Thomas, P.K.4
-
80
-
-
0033852333
-
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
-
Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK, Gray IC (2000) Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Hum Mol Genet 9:1865-1871
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1865-1871
-
-
Isaacs, A.M.1
Davies, K.E.2
Hunter, A.J.3
Nolan, P.M.4
Vizor, L.5
Peters, J.6
Gale, D.G.7
Kelsell, D.P.8
Latham, I.D.9
Chase, J.M.10
Fisher, E.M.11
Bouzyk, M.M.12
Potter, A.13
Masih, M.14
Walsh, F.S.15
Sims, M.A.16
Doncaster, K.E.17
Parsons, C.A.18
Martin, J.19
Brown, S.D.20
Rastan, S.21
Spurr, N.K.22
Gray, I.C.23
more..
-
81
-
-
0030825570
-
An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice
-
Suh JG, Ichihara N, Saigoh K, Nakabayashi O, Yamanishi T, Tanaka K, Wada K, Kikuchi T (1997) An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mice. Neuroscience 79:735-744
-
(1997)
Neuroscience
, vol.79
, pp. 735-744
-
-
Suh, J.G.1
Ichihara, N.2
Saigoh, K.3
Nakabayashi, O.4
Yamanishi, T.5
Tanaka, K.6
Wada, K.7
Kikuchi, T.8
-
82
-
-
0030883723
-
Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
-
Adlkofer K, Naef R, Suter U (1997) Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. J Neurosci Res 49:671-680
-
(1997)
J Neurosci Res
, vol.49
, pp. 671-680
-
-
Adlkofer, K.1
Naef, R.2
Suter, U.3
-
83
-
-
0030900850
-
Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies
-
Naef R, Adlkofer K, Lescher B, Suter U (1997) Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol Cell Neurosci 9:13-25
-
(1997)
Mol Cell Neurosci
, vol.9
, pp. 13-25
-
-
Naef, R.1
Adlkofer, K.2
Lescher, B.3
Suter, U.4
-
84
-
-
0031972929
-
Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
-
D'Urso D, Prior R, Greiner-Petter R, Gabreels-Festen AA, Muller HW (1998) Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 18:731-740
-
(1998)
J Neurosci
, vol.18
, pp. 731-740
-
-
D'Urso, D.1
Prior, R.2
Greiner-Petter, R.3
Gabreels-Festen, A.A.4
Muller, H.W.5
-
85
-
-
0033559844
-
Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction
-
Tobler AR, Notterpek L, Naef R, Taylor V, Suter U, Shooter EM (1999) Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J Neurosci 19:2027-2036
-
(1999)
J Neurosci
, vol.19
, pp. 2027-2036
-
-
Tobler, A.R.1
Notterpek, L.2
Naef, R.3
Taylor, V.4
Suter, U.5
Shooter, E.M.6
-
86
-
-
0034100295
-
Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A
-
Hanemann CO, D'Urso D, Gabreels-Festen AA, Muller HW (2000) Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 123:1001-1006
-
(2000)
Brain
, vol.123
, pp. 1001-1006
-
-
Hanemann, C.O.1
D'Urso, D.2
Gabreels-Festen, A.A.3
Muller, H.W.4
-
87
-
-
0034523142
-
PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells
-
Colby J, Nicholson R, Dickson KM, Orfali W, Naef R, Suter U, Snipes GJ (2000) PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neurobiol Dis 7:561-573
-
(2000)
Neurobiol Dis
, vol.7
, pp. 561-573
-
-
Colby, J.1
Nicholson, R.2
Dickson, K.M.3
Orfali, W.4
Naef, R.5
Suter, U.6
Snipes, G.J.7
-
88
-
-
0032894049
-
Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
-
Naef R, Suter U (1999) Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 6:1-14
-
(1999)
Neurobiol Dis
, vol.6
, pp. 1-14
-
-
Naef, R.1
Suter, U.2
-
89
-
-
0027196844
-
Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells
-
Pareek S, Suter U, Snipes GJ, Welcher AA, Shooter EM, Murphy RA (1993) Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J Biol Chem 268:10372-10379
-
(1993)
J Biol Chem
, vol.268
, pp. 10372-10379
-
-
Pareek, S.1
Suter, U.2
Snipes, G.J.3
Welcher, A.A.4
Shooter, E.M.5
Murphy, R.A.6
-
90
-
-
0033816938
-
Role of the peripheral myelin protein 22 N-linked glycan in oligomer stability
-
Ryan MC, Notterpek L, Tobler AR, Liu N, Shooter EM (2000) Role of the peripheral myelin protein 22 N-linked glycan in oligomer stability. J Neurochem 75:1465-1474
-
(2000)
J Neurochem
, vol.75
, pp. 1465-1474
-
-
Ryan, M.C.1
Notterpek, L.2
Tobler, A.R.3
Liu, N.4
Shooter, E.M.5
-
91
-
-
0035859867
-
Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins
-
Sanders CR, Ismail-Beigi F, McEnery MW (2001) Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins. Biochemistry 40:9453-9459
-
(2001)
Biochemistry
, vol.40
, pp. 9453-9459
-
-
Sanders, C.R.1
Ismail-Beigi, F.2
McEnery, M.W.3
-
92
-
-
0030754830
-
Neurons promote the translocation of peripheral myelin protein 22 into myelin
-
Pareek S, Notterpek L, Snipes GJ, Naef R, Sossin W, Laliberté J, Iacampo S, Suter U, Shooter EM, Murphy RA (1997) Neurons promote the translocation of peripheral myelin protein 22 into myelin. J Neurosci 17:7754-7762
-
(1997)
J Neurosci
, vol.17
, pp. 7754-7762
-
-
Pareek, S.1
Notterpek, L.2
Snipes, G.J.3
Naef, R.4
Sossin, W.5
Laliberté, J.6
Iacampo, S.7
Suter, U.8
Shooter, E.M.9
Murphy, R.A.10
-
94
-
-
0028073907
-
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
-
Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel PI (1994) Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 269:25795-25808
-
(1994)
J Biol Chem
, vol.269
, pp. 25795-25808
-
-
Suter, U.1
Snipes, G.J.2
Schoener-Scott, R.3
Welcher, A.A.4
Pareek, S.5
Lupski, J.R.6
Murphy, R.A.7
Shooter, E.M.8
Patel, P.I.9
-
95
-
-
0028268350
-
Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination
-
Bosse F, Zoidl G, Wilms S, Gillen CP, Kuhn HG, Muller HW (1994) Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination. J Neurosci Res 37:529-537
-
(1994)
J Neurosci Res
, vol.37
, pp. 529-537
-
-
Bosse, F.1
Zoidl, G.2
Wilms, S.3
Gillen, C.P.4
Kuhn, H.G.5
Muller, H.W.6
-
96
-
-
0035379743
-
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines
-
Huehne K, Rautenstrauss B (2001) Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines. Int J Mol Med 7:669-675
-
(2001)
Int J Mol Med
, vol.7
, pp. 669-675
-
-
Huehne, K.1
Rautenstrauss, B.2
-
97
-
-
0342803695
-
Molecular dissection of the Schwann cell specific promoter of the PMP22 gene
-
Saberan-Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, Fontes M (2000) Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene 248:223-231
-
(2000)
Gene
, vol.248
, pp. 223-231
-
-
Saberan-Djoneidi, D.1
Sanguedolce, V.2
Assouline, Z.3
Levy, N.4
Passage, E.5
Fontes, M.6
-
98
-
-
0035884962
-
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene
-
Hai M, Bidichandani SI, Patel PI (2001) Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. J Neurosci Res 65:508-519
-
(2001)
J Neurosci Res
, vol.65
, pp. 508-519
-
-
Hai, M.1
Bidichandani, S.I.2
Patel, P.I.3
-
99
-
-
0344666404
-
Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells
-
Desarnaud F, Do Thi AN, Brown AM, Lemke G, Suter U, Baulieu EE, Schumacher M (1998) Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. J Neurochem 71:1765-1768
-
(1998)
J Neurochem
, vol.71
, pp. 1765-1768
-
-
Desarnaud, F.1
Do Thi, A.N.2
Brown, A.M.3
Lemke, G.4
Suter, U.5
Baulieu, E.E.6
Schumacher, M.7
-
100
-
-
0343619371
-
Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells
-
Desarnaud F, Bidichandani S, Patel PI, Baulieu EE, Schumacher M (2000) Glucocorticosteroids stimulate the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. Brain Res 865:12-16
-
(2000)
Brain Res
, vol.865
, pp. 12-16
-
-
Desarnaud, F.1
Bidichandani, S.2
Patel, P.I.3
Baulieu, E.E.4
Schumacher, M.5
-
101
-
-
0033562482
-
Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: Possible mechanisms of action
-
Melcangi RC, Magnaghi V, Cavarretta I, Zucchi I, Bovolin P, D'Urso D, Martini L (1999) Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action. J Neurosci Res 56:349-357
-
(1999)
J Neurosci Res
, vol.56
, pp. 349-357
-
-
Melcangi, R.C.1
Magnaghi, V.2
Cavarretta, I.3
Zucchi, I.4
Bovolin, P.5
D'Urso, D.6
Martini, L.7
-
102
-
-
0025328309
-
A growth arrest-specific (gas) gene codes for a membrane protein
-
Manfioletti G, Ruaro ME, Del Sal G, Philipson L, Schneider C (1990) A growth arrest-specific (gas) gene codes for a membrane protein. Mol Cell Biol 10:2924-2930
-
(1990)
Mol Cell Biol
, vol.10
, pp. 2924-2930
-
-
Manfioletti, G.1
Ruaro, M.E.2
Del Sal, G.3
Philipson, L.4
Schneider, C.5
-
103
-
-
0033555901
-
Post-transcriptional regulation of the peripheral myelin protein gene PMP22/gas3
-
Bosse F, Brodbeck J, Muller HW (1999) Post-transcriptional regulation of the peripheral myelin protein gene PMP22/gas3. J Neurosci Res 55:164-177
-
(1999)
J Neurosci Res
, vol.55
, pp. 164-177
-
-
Bosse, F.1
Brodbeck, J.2
Muller, H.W.3
-
104
-
-
0031006325
-
Susceptibility to p53 dependent apoptosis correlates with increased levels of Gas2 and Gas3 proteins
-
Brancolini C, Marzinotto S, Schneider C (1997) Susceptibility to p53 dependent apoptosis correlates with increased levels of Gas2 and Gas3 proteins. Cell Death Differ 4:247-253
-
(1997)
Cell Death Differ
, vol.4
, pp. 247-253
-
-
Brancolini, C.1
Marzinotto, S.2
Schneider, C.3
-
105
-
-
0028950408
-
Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth
-
Zoidl G, Blass-Kampmann S, D'Urso D, Schmalenbach C, Muller HW (1995) Retroviral- mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBO J 14:1122-1128
-
(1995)
EMBO J
, vol.14
, pp. 1122-1128
-
-
Zoidl, G.1
Blass-Kampmann, S.2
D'Urso, D.3
Schmalenbach, C.4
Muller, H.W.5
-
106
-
-
0031054533
-
Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22Trembler on cell growth of NIH3T3 fibroblasts
-
Zoidl G, D'Urso D, Blass-Kampmann S, Schmalenbach C, Kuhn R, Muller HW (1997) Influence of elevated expression of rat wild-type PMP22 and its mutant PMP22Trembler on cell growth of NIH3T3 fibroblasts. Cell Tissue Res 287:459-470
-
(1997)
Cell Tissue Res
, vol.287
, pp. 459-470
-
-
Zoidl, G.1
D'Urso, D.2
Blass-Kampmann, S.3
Schmalenbach, C.4
Kuhn, R.5
Muller, H.W.6
-
107
-
-
0029159803
-
Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A
-
Fabbretti E, Edomi P, Brancolini C, Schneider C (1995) Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev 9:1846-1856
-
(1995)
Genes Dev
, vol.9
, pp. 1846-1856
-
-
Fabbretti, E.1
Edomi, P.2
Brancolini, C.3
Schneider, C.4
-
108
-
-
0032836436
-
Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22
-
Brancolini C, Marzinotto S, Edomi P, Agostoni E, Fiorentini C, Muller HW, Schneider C (1999) Rho-dependent regulation of cell spreading by the tetraspan membrane protein Gas3/PMP22. Mol Biol Cell 10:2441-2459
-
(1999)
Mol Biol Cell
, vol.10
, pp. 2441-2459
-
-
Brancolini, C.1
Marzinotto, S.2
Edomi, P.3
Agostoni, E.4
Fiorentini, C.5
Muller, H.W.6
Schneider, C.7
-
109
-
-
0035884770
-
Regulation of Schwann cell morphology and adhesion by receptor-mediated lysophosphatidic acid signaling
-
Weiner JA, Fukushima N, Contos JJ, Scherer SS, Chun J (2001) Regulation of Schwann cell morphology and adhesion by receptor-mediated lysophosphatidic acid signaling. J Neurosci 21:7069-7078
-
(2001)
J Neurosci
, vol.21
, pp. 7069-7078
-
-
Weiner, J.A.1
Fukushima, N.2
Contos, J.J.3
Scherer, S.S.4
Chun, J.5
-
110
-
-
0034493505
-
Exposure at the cell surface is required for gas3/PMP22 to regulate both cell death and cell spreading: Implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases
-
Brancolini C, Edomi P, Marzinotto S, Schneider C (2000) Exposure at the cell surface is required for gas3/PMP22 to regulate both cell death and cell spreading: implication for the Charcot-Marie-Tooth type 1A and Dejerine-Sottas diseases. Mol Biol Cell 11:2901-2914
-
(2000)
Mol Biol Cell
, vol.11
, pp. 2901-2914
-
-
Brancolini, C.1
Edomi, P.2
Marzinotto, S.3
Schneider, C.4
-
111
-
-
0034654623
-
PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family
-
Attardi LD, Reczek EE, Cosmas C, Demicco EG, McCurrach ME, Lowe SW, Jacks T (2000) PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family. Genes Dev 14:704-718
-
(2000)
Genes Dev
, vol.14
, pp. 704-718
-
-
Attardi, L.D.1
Reczek, E.E.2
Cosmas, C.3
Demicco, E.G.4
McCurrach, M.E.5
Lowe, S.W.6
Jacks, T.7
-
113
-
-
9144240042
-
Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22/Epithelial Membrane Proteins and the Claudins
-
Christophe-Hobertus C, Szpirer C, Guyon R, Christophe D (2001) Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22/Epithelial Membrane Proteins and the Claudins. BMC Genomics 2:3
-
(2001)
BMC Genomics
, vol.2
, pp. 3
-
-
Christophe-Hobertus, C.1
Szpirer, C.2
Guyon, R.3
Christophe, D.4
-
114
-
-
0012855630
-
Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia
-
Notterpek L, Roux KJ, Amici SA, Yazdanpour A, Rahner C, Fletcher BS (2001) Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia. Proc Natl Acad Sci USA 20:20
-
(2001)
Proc Natl Acad Sci USA
, vol.20
, pp. 20
-
-
Notterpek, L.1
Roux, K.J.2
Amici, S.A.3
Yazdanpour, A.4
Rahner, C.5
Fletcher, B.S.6
-
115
-
-
0033566665
-
Characterization of peripheral myelin protein 22 in zebrafish (zPMP22) suggests an early role in the development of the peripheral nervous system
-
Wulf P, Bernhardt RR, Suter U (1999) Characterization of peripheral myelin protein 22 in zebrafish (zPMP22) suggests an early role in the development of the peripheral nervous system. J Neurosci Res 57:467-478
-
(1999)
J Neurosci Res
, vol.57
, pp. 467-478
-
-
Wulf, P.1
Bernhardt, R.R.2
Suter, U.3
-
116
-
-
0032987861
-
Identification and characterization of a new member of the gas3/PMP22 gene family in C. elegans
-
Agostoni E, Gobessi S, Brancolini C, Schneider C (1999) Identification and characterization of a new member of the gas3/PMP22 gene family in C. elegans. Gene 234:267-274
-
(1999)
Gene
, vol.234
, pp. 267-274
-
-
Agostoni, E.1
Gobessi, S.2
Brancolini, C.3
Schneider, C.4
-
117
-
-
0028793694
-
Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family
-
Taylor V, Welcher AA, Program AE, Suter U (1995) Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family. J Biol Chem 270:28824-28833
-
(1995)
J Biol Chem
, vol.270
, pp. 28824-28833
-
-
Taylor, V.1
Welcher, A.A.2
Program, A.E.3
Suter, U.4
-
118
-
-
0029588323
-
Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development
-
Baechner D, Liehr T, Hameister H, Altenberger H, Grehl H, Suter U, Rautenstrauss B (1995) Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development. J Neurosci Res 42:733-741
-
(1995)
J Neurosci Res
, vol.42
, pp. 733-741
-
-
Baechner, D.1
Liehr, T.2
Hameister, H.3
Altenberger, H.4
Grehl, H.5
Suter, U.6
Rautenstrauss, B.7
-
119
-
-
0029075810
-
Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons
-
Parmantier E, Cabon F, Braun C, D'Urso D, Muller HW, Zalc B (1995) Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons. Eur J Neurosci 7:1080-1088
-
(1995)
Eur J Neurosci
, vol.7
, pp. 1080-1088
-
-
Parmantier, E.1
Cabon, F.2
Braun, C.3
D'Urso, D.4
Muller, H.W.5
Zalc, B.6
-
120
-
-
0031037253
-
PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns
-
Parmantier E, Braun C, Thomas JL, Peyron F, Martinez S, Zalc B (1997) PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns. J Comp Neurol 378:159-172
-
(1997)
J Comp Neurol
, vol.378
, pp. 159-172
-
-
Parmantier, E.1
Braun, C.2
Thomas, J.L.3
Peyron, F.4
Martinez, S.5
Zalc, B.6
-
121
-
-
0032871477
-
P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-beta family factors
-
Hagedorn L, Suter U, Sommer L (1999) P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-beta family factors. Development 126:3781-3794
-
(1999)
Development
, vol.126
, pp. 3781-3794
-
-
Hagedorn, L.1
Suter, U.2
Sommer, L.3
-
122
-
-
1842412458
-
Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): Normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs
-
Hanemann CO, Gabreels-Festen AA, Stoll G, Muller HW (1997) Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. Acta Neuropathol (Berl) 94:310-315
-
(1997)
Acta Neuropathol (Berl)
, vol.94
, pp. 310-315
-
-
Hanemann, C.O.1
Gabreels-Festen, A.A.2
Stoll, G.3
Muller, H.W.4
-
123
-
-
0032104866
-
Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients
-
Hanemann CO, Rosenbaum C, Kupfer S, Wosch S, Stoegbauer F, Muller HW (1998) Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients. Glia 23:89-98
-
(1998)
Glia
, vol.23
, pp. 89-98
-
-
Hanemann, C.O.1
Rosenbaum, C.2
Kupfer, S.3
Wosch, S.4
Stoegbauer, F.5
Muller, H.W.6
-
124
-
-
0037083127
-
Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1
-
Atanasoski S, Scherer SS, Nave KA, Suter U (2001) Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1. J Neurosci Res 67:443-449
-
(2001)
J Neurosci Res
, vol.67
, pp. 443-449
-
-
Atanasoski, S.1
Scherer, S.S.2
Nave, K.A.3
Suter, U.4
-
125
-
-
0035687780
-
Differential cycline D1 requirements of proliferating Schwann cells during development and after injury
-
Atanasoski S, Shumas S, Dickson C, Scherer SS, Suter U (2001) Differential cycline D1 requirements of proliferating Schwann cells during development and after injury. Mol Cell Neurosci 18:581-592
-
(2001)
Mol Cell Neurosci
, vol.18
, pp. 581-592
-
-
Atanasoski, S.1
Shumas, S.2
Dickson, C.3
Scherer, S.S.4
Suter, U.5
-
126
-
-
0031781215
-
Fate of Schwann cells in CMT1A and HNPP: Evidence for apoptosis
-
Erdem S, Mendell JR, Sahenk Z (1998) Fate of Schwann cells in CMT1A and HNPP: evidence for apoptosis. J Neuropathol Exp Neurol 57:635-642
-
(1998)
J Neuropathol Exp Neurol
, vol.57
, pp. 635-642
-
-
Erdem, S.1
Mendell, J.R.2
Sahenk, Z.3
-
127
-
-
0029955993
-
Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages
-
Hanemann CO, Gabreels-Fasten AA, Muller HW, Stoll G (1996) Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages. Brain 119:1461-1469
-
(1996)
Brain
, vol.119
, pp. 1461-1469
-
-
Hanemann, C.O.1
Gabreels-Fasten, A.A.2
Muller, H.W.3
Stoll, G.4
-
128
-
-
0033485879
-
Altered molecular architecture of peripheral nerves in mice lacking the peripheral myelin protein 22 or connexin32
-
Neuberg DH, Sancho S, Suter U (1999) Altered molecular architecture of peripheral nerves in mice lacking the peripheral myelin protein 22 or connexin32. J Neurosci Res 58:612-623
-
(1999)
J Neurosci Res
, vol.58
, pp. 612-623
-
-
Neuberg, D.H.1
Sancho, S.2
Suter, U.3
-
129
-
-
0021849731
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
-
Lemke G, Axel R (1985) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 40:501-508
-
(1985)
Cell
, vol.40
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
130
-
-
0023967387
-
Isolation and analysis of the gene encoding peripheral myelin protein zero
-
Lemke G, Lamar E, Patterson J (1988) Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1:73-83
-
(1988)
Neuron
, vol.1
, pp. 73-83
-
-
Lemke, G.1
Lamar, E.2
Patterson, J.3
-
131
-
-
0025194356
-
Role of myelin P0 protein as a homophilic adhesion molecule
-
Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GI (1990) Role of myelin P0 protein as a homophilic adhesion molecule. Nature 344:871-872
-
(1990)
Nature
, vol.344
, pp. 871-872
-
-
Filbin, M.T.1
Walsh, F.S.2
Trapp, B.D.3
Pizzey, J.A.4
Tennekoon, G.I.5
-
132
-
-
0027422165
-
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993) De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 5:266-268
-
(1993)
Nat Genet
, vol.5
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaishi, Y.3
Nanao, K.4
Takahashi, T.5
Takada, G.6
Nicholson, G.A.7
Ouvrier, R.A.8
Tachi, N.9
-
133
-
-
0032949034
-
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
-
De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C (1999) The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122:281-290
-
(1999)
Brain
, vol.122
, pp. 281-290
-
-
De Jonghe, P.1
Timmerman, V.2
Ceuterick, C.3
Nelis, E.4
De Vriendt, E.5
Lofgren, A.6
Vercruyssen, A.7
Verellen, C.8
Van Maldergem, L.9
Martin, J.J.10
Van Broeckhoven, C.11
-
134
-
-
0034744106
-
Mutation analysis in Chariot-Marie Tooth disease type 1: Point mutations in the MPZ gene and the GJBI gene cause comparable phenotypic heterogeneity
-
Young P, Grote K, Kuhlenbaumer G, Debus O, Kurlemann H, Halfter H, Funke H, Ringelstein EB, Stogbauer F (2001) Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJBI gene cause comparable phenotypic heterogeneity. J Neurol 248:410-415
-
(2001)
J Neurol
, vol.248
, pp. 410-415
-
-
Young, P.1
Grote, K.2
Kuhlenbaumer, G.3
Debus, O.4
Kurlemann, H.5
Halfter, H.6
Funke, H.7
Ringelstein, E.B.8
Stogbauer, F.9
-
135
-
-
0032589645
-
The Roussy-Levy family: From the original description to the gene
-
Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G (1999) The Roussy-Levy family: from the original description to the gene. Ann Neurol 46:770-773
-
(1999)
Ann Neurol
, vol.46
, pp. 770-773
-
-
Plante-Bordeneuve, V.1
Guiochon-Mantel, A.2
Lacroix, C.3
Lapresle, J.4
Said, G.5
-
136
-
-
0030246987
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
-
Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA (1996) Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 17:435-449
-
(1996)
Neuron
, vol.17
, pp. 435-449
-
-
Shapiro, L.1
Doyle, J.P.2
Hensley, P.3
Colman, D.R.4
Hendrickson, W.A.5
-
137
-
-
0041114444
-
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
-
Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, Gabreels FJ, Bolhuis PA, Beersum S van, Kulkens T, Nelis E, Jennekens FG, Visser M de, Engelen BG van, Van Broeckhoven C, Mariman EC (1996) Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 47:761-765
-
(1996)
Neurology
, vol.47
, pp. 761-765
-
-
Gabreels-Festen, A.A.1
Hoogendijk, J.E.2
Meijerink, P.H.3
Gabreels, F.J.4
Bolhuis, P.A.5
Van Beersum, S.6
Kulkens, T.7
Nelis, E.8
Jennekens, F.G.9
De Visser, M.10
Van Engelen, B.G.11
Van Broeckhoven, C.12
Mariman, E.C.13
-
138
-
-
0028058827
-
The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain
-
Wong MH, Filbin MT (1994) The cytoplasmic domain of the myelin P0 protein influences the adhesive interactions of its extracellular domain. J Cell Biol 126:1089-1097
-
(1994)
J Cell Biol
, vol.126
, pp. 1089-1097
-
-
Wong, M.H.1
Filbin, M.T.2
-
139
-
-
0029797249
-
Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain
-
Wong MH, Filbin MT (1996) Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain. J Cell Biol 134:1531-1541
-
(1996)
J Cell Biol
, vol.134
, pp. 1531-1541
-
-
Wong, M.H.1
Filbin, M.T.2
-
140
-
-
0035851925
-
Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination
-
Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J (2001) Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. J Cell Biol 155:439-446
-
(2001)
J Cell Biol
, vol.155
, pp. 439-446
-
-
Xu, W.1
Shy, M.2
Kamholz, J.3
Elferink, L.4
Xu, G.5
Lilien, J.6
Balsamo, J.7
-
141
-
-
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, Soriano P, Schachner M (1992) Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71:565-576
-
(1992)
Cell
, vol.71
, pp. 565-576
-
-
Giese, K.P.1
Martini, R.2
Lemke, G.3
Soriano, P.4
Schachner, M.5
-
142
-
-
0034660338
-
Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis
-
Xu W, Manichella D, Jiang H, Vallat JM, Lilien J, Baron P, Scarlato G, Kamholz J, Shy ME (2000) Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res 60:714-724
-
(2000)
J Neurosci Res
, vol.60
, pp. 714-724
-
-
Xu, W.1
Manichella, D.2
Jiang, H.3
Vallat, J.M.4
Lilien, J.5
Baron, P.6
Scarlato, G.7
Kamholz, J.8
Shy, M.E.9
-
143
-
-
0345211489
-
Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice
-
Frei R, Motzing S, Kinkelin I, Schachner M, Koltzenburg M, Martini R (1999) Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice. J Neurosci 19:6058-6067
-
(1999)
J Neurosci
, vol.19
, pp. 6058-6067
-
-
Frei, R.1
Motzing, S.2
Kinkelin, I.3
Schachner, M.4
Koltzenburg, M.5
Martini, R.6
-
144
-
-
0028824925
-
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
-
Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M (1995) Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 11:281-286
-
(1995)
Nat Genet
, vol.11
, pp. 281-286
-
-
Martini, R.1
Zielasek, J.2
Toyka, K.V.3
Giese, K.P.4
Schachner, M.5
-
145
-
-
0032125516
-
Myelin Po protein mutated at Cys2l has a dominant-negative effect on adhesion of wild type Po
-
Zhang K, Filbin MT (1998) Myelin Po protein mutated at Cys2l has a dominant-negative effect on adhesion of wild type Po. J Neurosci Res 53:1-6
-
(1998)
J Neurosci Res
, vol.53
, pp. 1-6
-
-
Zhang, K.1
Filbin, M.T.2
-
146
-
-
0030611992
-
Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP)
-
Shy ME, Arroyo E, Sladky J, Menichella D, Jiang H, Xu W, Kamholz J, Scherer SS (1997) Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J Neuropathol Exp Neurol 56:811-821
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, pp. 811-821
-
-
Shy, M.E.1
Arroyo, E.2
Sladky, J.3
Menichella, D.4
Jiang, H.5
Xu, W.6
Kamholz, J.7
Scherer, S.S.8
-
147
-
-
0034651089
-
Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance
-
Schmid CD, Stienekemeier M, Oehen S, Bootz F, Zielasek J, Gold R, Toyka KV, Schachner M, Martini R (2000) Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance. J Neurosci 20:729-735
-
(2000)
J Neurosci
, vol.20
, pp. 729-735
-
-
Schmid, C.D.1
Stienekemeier, M.2
Oehen, S.3
Bootz, F.4
Zielasek, J.5
Gold, R.6
Toyka, K.V.7
Schachner, M.8
Martini, R.9
-
148
-
-
0034948117
-
Bone marrow transfer from wild-type mice reverts the beneficial effect of genetically mediated immune deficiency in myelin mutants
-
Maurer M, Schmid CD, Bootz F, Zielasek J, Toyka KV, Oehen S, Martini R (2001) Bone marrow transfer from wild-type mice reverts the beneficial effect of genetically mediated immune deficiency in myelin mutants. Mol Cell Neurosci 17:1094-1101
-
(2001)
Mol Cell Neurosci
, vol.17
, pp. 1094-1101
-
-
Maurer, M.1
Schmid, C.D.2
Bootz, F.3
Zielasek, J.4
Toyka, K.V.5
Oehen, S.6
Martini, R.7
-
149
-
-
0035931751
-
The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0
-
Carenini S, Maurer M, Werner A, Blazyca H, Toyka KV, Schmid CD, Raivich G, Martini R (2001) The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0. J Cell Biol 152:301-308
-
(2001)
J Cell Biol
, vol.152
, pp. 301-308
-
-
Carenini, S.1
Maurer, M.2
Werner, A.3
Blazyca, H.4
Toyka, K.V.5
Schmid, C.D.6
Raivich, G.7
Martini, R.8
-
150
-
-
0034611010
-
P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves
-
Wrabetz L, Feltri ML, Quattrini A, Imperiale D, Previtali S, D'Antonio M, Martini R, Yin X, Trapp BD, Zhou L, Chiu SY, Messing A (2000) P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 148:1021-1034
-
(2000)
J Cell Biol
, vol.148
, pp. 1021-1034
-
-
Wrabetz, L.1
Feltri, M.L.2
Quattrini, A.3
Imperiale, D.4
Previtali, S.5
D'Antonio, M.6
Martini, R.7
Yin, X.8
Trapp, B.D.9
Zhou, L.10
Chiu, S.Y.11
Messing, A.12
-
151
-
-
0028256108
-
Confirmation of proximal lq duplication using fluorescence in situ hybridization
-
Chen H, Kusyk CJ, Tuck-Muller CM, Martinez JE, Dorand RD, Wertelecki W (1994) Confirmation of proximal lq duplication using fluorescence in situ hybridization. Am J Med Genet 50:28-31
-
(1994)
Am J Med Genet
, vol.50
, pp. 28-31
-
-
Chen, H.1
Kusyk, C.J.2
Tuck-Muller, C.M.3
Martinez, J.E.4
Dorand, R.D.5
Wertelecki, W.6
-
152
-
-
0034722339
-
Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice
-
Previtali SC, Quattrini A, Fasolini M, Panzeri MC, Villa A, Filbin MT, Li W, Chiu SY, Messing A, Wrabetz L, Feltri ML (2000) Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice. J Cell Biol 151:1035-1046
-
(2000)
J Cell Biol
, vol.151
, pp. 1035-1046
-
-
Previtali, S.C.1
Quattrini, A.2
Fasolini, M.3
Panzeri, M.C.4
Villa, A.5
Filbin, M.T.6
Li, W.7
Chiu, S.Y.8
Messing, A.9
Wrabetz, L.10
Feltri, M.L.11
-
153
-
-
0033134949
-
Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin
-
D'Urso D, Ehrhardt P, Muller HW (1999) Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J Neurosci 19:3396-3403
-
(1999)
J Neurosci
, vol.19
, pp. 3396-3403
-
-
D'Urso, D.1
Ehrhardt, P.2
Muller, H.W.3
-
154
-
-
0033485853
-
Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice
-
Carenini S, Neuberg D, Schachner M, Suter U, Martini R (1999) Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice. Glia 28:256-264
-
(1999)
Glia
, vol.28
, pp. 256-264
-
-
Carenini, S.1
Neuberg, D.2
Schachner, M.3
Suter, U.4
Martini, R.5
-
155
-
-
0032604280
-
The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease
-
Scherer SS, Bone LJ, Deschenes SM, Abel A, Balice-Gordon RJ, Fischbeck KH (1999) The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. Novartis Found Symp 219:175-185
-
(1999)
Novartis Found Symp
, vol.219
, pp. 175-185
-
-
Scherer, S.S.1
Bone, L.J.2
Deschenes, S.M.3
Abel, A.4
Balice-Gordon, R.J.5
Fischbeck, K.H.6
-
156
-
-
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, Nelles E, Willecke K, Zielasek J,
-
(1997)
J Neurosci
, vol.17
, pp. 4545-4551
-
-
Anzini, P.1
Neuberg, D.H.2
Schachner, M.3
Nelles, E.4
Willecke, K.5
Zielasek, J.6
Toyka, K.V.7
Suter, U.8
Martini, R.9
-
157
-
-
0032171653
-
Connexin32-null mice develop demyelinating peripheral neuropathy
-
Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ (1998) Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 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
-
158
-
-
0032807346
-
Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease
-
Abel A, Bone LJ, Messing A, Scherer SS, Fischbeck KH (1999) Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. J Neuropathol Exp Neurol 58:702-710
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 702-710
-
-
Abel, A.1
Bone, L.J.2
Messing, A.3
Scherer, S.S.4
Fischbeck, K.H.5
-
159
-
-
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 (2000) Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res Brain Res Rev 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
-
160
-
-
0030723591
-
Altered trafficking of mutant connexin32
-
Deschenes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH (1997) Altered trafficking of mutant connexin32. J Neurosci 17:9077-9084
-
(1997)
J Neurosci
, vol.17
, pp. 9077-9084
-
-
Deschenes, S.M.1
Walcott, J.L.2
Wexler, T.L.3
Scherer, S.S.4
Fischbeck, K.H.5
-
161
-
-
0030930298
-
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
-
Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML (1997) Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet 100:391-397
-
(1997)
Hum Genet
, vol.100
, pp. 391-397
-
-
Silander, K.1
Meretoja, P.2
Pihko, H.3
Juvonen, V.4
Issakainen, J.5
Aula, P.6
Savontaus, M.L.7
-
162
-
-
0032896064
-
The neurobiology of Schwann cells
-
Mirsky R, Jessen KR (1999) The neurobiology of Schwann cells. Brain Pathol 9:293-311
-
(1999)
Brain Pathol
, vol.9
, pp. 293-311
-
-
Mirsky, R.1
Jessen, K.R.2
-
163
-
-
0029791917
-
The regulation of Krox-20 expression reveals important steps in the control of peripheral glial cell development
-
Murphy P, Topilko P, Schneider-Maunoury S, Seitanidou T, Baron-Van Evercooren A, Charnay P (1996) The regulation of Krox-20 expression reveals important steps in the control of peripheral glial cell development. Development 122:2847-2857
-
(1996)
Development
, vol.122
, pp. 2847-2857
-
-
Murphy, P.1
Topilko, P.2
Schneider-Maunoury, S.3
Seitanidou, T.4
Baron-Van Evercooren, A.5
Charnay, P.6
-
164
-
-
0034019478
-
Expression pattern of a Krox-20/Cre knock-in allele in the developing hindbrain, bones, and peripheral nervous system
-
Voiculescu O, Charnay P, Schneider-Maunoury S (2000) Expression pattern of a Krox-20/Cre knock-in allele in the developing hindbrain, bones, and peripheral nervous system. Genesis 26:123-126
-
(2000)
Genesis
, vol.26
, pp. 123-126
-
-
Voiculescu, O.1
Charnay, P.2
Schneider-Maunoury, S.3
-
165
-
-
0032957868
-
Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells
-
Zorick TS, Syroid DE, Brown A, Gridley T, Lemke G (1999) Krox-20 controls SCIP expression, cell cycle exit and susceptibility to apoptosis in developing myelinating Schwann cells. Development 126:1397-1406
-
(1999)
Development
, vol.126
, pp. 1397-1406
-
-
Zorick, T.S.1
Syroid, D.E.2
Brown, A.3
Gridley, T.4
Lemke, G.5
-
166
-
-
17944368880
-
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter
-
Musso M, Balestra P, Bellone E, Cassandrini D, Di Maria E, Doria LL, Grandis M, Mancardi GL, Schenone A, Levi G, Ajmar F, Mandich P (2001) The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. Neurobiol Dis 8:700-706
-
(2001)
Neurobiol Dis
, vol.8
, pp. 700-706
-
-
Musso, M.1
Balestra, P.2
Bellone, E.3
Cassandrini, D.4
Di Maria, E.5
Doria, L.L.6
Grandis, M.7
Mancardi, G.L.8
Schenone, A.9
Levi, G.10
Ajmar, F.11
Mandich, P.12
-
167
-
-
0035406339
-
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
-
Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (2001) EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 3:153-157
-
(2001)
Neurogenetics
, vol.3
, pp. 153-157
-
-
Boerkoel, C.F.1
Takashima, H.2
Bacino, C.A.3
Daentl, D.4
Lupski, J.R.5
-
168
-
-
0028204901
-
Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment
-
Gillespie CS, Sherman DL, Blair GE, Brophy PJ (1994) Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 12:497-508
-
(1994)
Neuron
, vol.12
, pp. 497-508
-
-
Gillespie, C.S.1
Sherman, D.L.2
Blair, G.E.3
Brophy, P.J.4
-
169
-
-
0029615322
-
Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development
-
Scherer SS, Xu YT, Bannerman PG, Sherman DL, Brophy PJ (1995) Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 121:4265-4273
-
(1995)
Development
, vol.121
, pp. 4265-4273
-
-
Scherer, S.S.1
Xu, Y.T.2
Bannerman, P.G.3
Sherman, D.L.4
Brophy, P.J.5
-
170
-
-
0032489463
-
Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells
-
Dytrych L, Sherman DL, Gillespie CS, Brophy PJ (1998) Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells. J Biol Chem 273:5794-5800
-
(1998)
J Biol Chem
, vol.273
, pp. 5794-5800
-
-
Dytrych, L.1
Sherman, D.L.2
Gillespie, C.S.3
Brophy, P.J.4
-
171
-
-
0034681351
-
A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin
-
Sherman DL, Brophy PJ (2000) A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin. J Biol Chem 275:4537-4540
-
(2000)
J Biol Chem
, vol.275
, pp. 4537-4540
-
-
Sherman, D.L.1
Brophy, P.J.2
-
172
-
-
0034968820
-
Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
-
Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ (2001) Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 30:677-687
-
(2001)
Neuron
, vol.30
, pp. 677-687
-
-
Sherman, D.L.1
Fabrizi, C.2
Gillespie, C.S.3
Brophy, P.J.4
-
173
-
-
0033681225
-
Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice
-
Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ (2000) Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26:523-531
-
(2000)
Neuron
, vol.26
, pp. 523-531
-
-
Gillespie, C.S.1
Sherman, D.L.2
Fleetwood-Walker, S.M.3
Cottrell, D.F.4
Tait, S.5
Garry, E.M.6
Wallace, V.C.7
Ure, J.8
Griffiths, I.R.9
Smith, A.10
Brophy, P.J.11
-
174
-
-
0031569888
-
The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx)
-
Gillespie CS, Lee M, Fantes JF, Brophy PJ (1997) The gene encoding the Schwann cell protein periaxin localizes on mouse chromosome 7 (Prx). Genomics 41:297-298
-
(1997)
Genomics
, vol.41
, pp. 297-298
-
-
Gillespie, C.S.1
Lee, M.2
Fantes, J.F.3
Brophy, P.J.4
-
175
-
-
0033924959
-
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q 13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene
-
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M (2000) Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q 13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet 67:236-243
-
(2000)
Am J Hum Genet
, vol.67
, pp. 236-243
-
-
Delague, V.1
Bareil, C.2
Tuffery, S.3
Bouvagnet, P.4
Chouery, E.5
Koussa, S.6
Maisonobe, T.7
Loiselet, J.8
Megarbane, A.9
Claustres, M.10
-
176
-
-
0034051581
-
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22
-
Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP (2000) Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22. Genomics 63:271-278
-
(2000)
Genomics
, vol.63
, pp. 271-278
-
-
Bolino, A.1
Levy, E.R.2
Muglia, M.3
Conforti, F.L.4
LeGuern, E.5
Salih, M.A.6
Georgiou, D.M.7
Christodoulou, R.K.8
Hausmanowa-Petrusewicz, I.9
Mandich, P.10
Gambardella, A.11
Quattrone, A.12
Devoto, M.13
Monaco, A.P.14
-
177
-
-
0031942903
-
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
-
Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A (1998) Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology 50:799-801
-
(1998)
Neurology
, vol.50
, pp. 799-801
-
-
Gambardella, A.1
Bolino, A.2
Muglia, M.3
Valentino, P.4
Bono, F.5
Oliveri, R.L.6
Sabatelli, M.7
Brancolini, V.8
Van Broeckhoven, C.9
Romeo, G.10
Devoto, M.11
Quattrone, A.12
-
178
-
-
0031665007
-
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human
-
Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (1998) Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet 7:1703-1712
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1703-1712
-
-
Laporte, J.1
Blondeau, F.2
Buj-Bello, A.3
Tentler, D.4
Kretz, C.5
Dahl, N.6
Mandel, J.L.7
-
179
-
-
0034244437
-
Inaugural article: Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
-
Taylor GS, Maehama T, Dixon JE (2000) Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci USA 97:8910-8915
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 8910-8915
-
-
Taylor, G.S.1
Maehama, T.2
Dixon, J.E.3
-
180
-
-
0034703432
-
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
-
Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL (2000) Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 9:2223-2229
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2223-2229
-
-
Blondeau, F.1
Laporte, J.2
Bodin, S.3
Superti-Furga, G.4
Payrastre, B.5
Mandel, J.L.6
-
181
-
-
0034306454
-
GRAM, a novel domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins
-
Doerks T, Strauss M, Brendel M, Bork P (2000) GRAM, a novel domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins. Trends Biochem Sci 25:483-485
-
(2000)
Trends Biochem Sci
, vol.25
, pp. 483-485
-
-
Doerks, T.1
Strauss, M.2
Brendel, M.3
Bork, P.4
-
182
-
-
0031945475
-
Association of SET domain and myotubularin@-related proteins modulates growth control
-
Cui X, De Vivo I, Slany R, Miyamoto A, Firestein R, Cleary ML (1998) Association of SET domain and myotubularin@-related proteins modulates growth control. Nat Genet 18:331-337
-
(1998)
Nat Genet
, vol.18
, pp. 331-337
-
-
Cui, X.1
De Vivo, I.2
Slany, R.3
Miyamoto, A.4
Firestein, R.5
Cleary, M.L.6
-
183
-
-
0035313805
-
PTEN and myotubularin phosphoinositide phosphatases: Bringing bioinformatics to the lab bench
-
Wishart MJ, Taylor GS, Slama JT, Dixon JE (2001) PTEN and myotubularin phosphoinositide phosphatases: bringing bioinformatics to the lab bench. Curr Opin Cell Biol 13:172-181
-
(2001)
Curr Opin Cell Biol
, vol.13
, pp. 172-181
-
-
Wishart, M.J.1
Taylor, G.S.2
Slama, J.T.3
Dixon, J.E.4
-
184
-
-
0034743936
-
Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
-
Houlden H, King RH, Wood NW, Thomas PK, Reilly MM (2001) Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 124:907-915
-
(2001)
Brain
, vol.124
, pp. 907-915
-
-
Houlden, H.1
King, R.H.2
Wood, N.W.3
Thomas, P.K.4
Reilly, M.M.5
-
185
-
-
0029860742
-
Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis, GRP78/BiP and novel genes
-
Kokame K, Kato H, Miyata T (1996) Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes. J Biol Chem 271:29659-29665
-
(1996)
J Biol Chem
, vol.271
, pp. 29659-29665
-
-
Kokame, K.1
Kato, H.2
Miyata, T.3
-
186
-
-
0030799666
-
A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms
-
Belzen N van, Dinjens WN, Diesveld MP, Groen NA, Made AC van der, Nozawa Y, Vlietstra R, Trapman J, Bosman FT (1997) A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms. Lab Invest 77:85-92
-
(1997)
Lab Invest
, vol.77
, pp. 85-92
-
-
Van Belzen, N.1
Dinjens, W.N.2
Diesveld, M.P.3
Groen, N.A.4
Van der Made, A.C.5
Nozawa, Y.6
Vlietstra, R.7
Trapman, J.8
Bosman, F.T.9
-
187
-
-
0032188908
-
Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage
-
Kurdistani SK, Arizti P, Reimer CL, Sugrue MM, Aaronson SA, Lee SW (1998) Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage. Cancer Res 58:4439-4444
-
(1998)
Cancer Res
, vol.58
, pp. 4439-4444
-
-
Kurdistani, S.K.1
Arizti, P.2
Reimer, C.L.3
Sugrue, M.M.4
Aaronson, S.A.5
Lee, S.W.6
-
188
-
-
0032523901
-
Cap43, a novel gene specifically induced by Ni2+ compounds
-
Zhou D, Salnikow K, Costa M (1998) Cap43, a novel gene specifically induced by Ni2+ compounds. Cancer Res 58:2182-2189
-
(1998)
Cancer Res
, vol.58
, pp. 2182-2189
-
-
Zhou, D.1
Salnikow, K.2
Costa, M.3
-
189
-
-
0034674282
-
Phosphorylation of RTP, an ER stress-responsive cytoplasmic protein
-
Agarwala KL, Kokame K, Kato H, Miyata T (2000) Phosphorylation of RTP, an ER stress-responsive cytoplasmic protein. Biochem Biophys Res Commun 272:641-647
-
(2000)
Biochem Biophys Res Commun
, vol.272
, pp. 641-647
-
-
Agarwala, K.L.1
Kokame, K.2
Kato, H.3
Miyata, T.4
-
190
-
-
0032821709
-
Neurofilament functions in health and disease
-
Julien JP (1999) Neurofilament functions in health and disease. Curr Opin Neurobiol 9:554-560
-
(1999)
Curr Opin Neurobiol
, vol.9
, pp. 554-560
-
-
Julien, J.P.1
-
191
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249
-
(2001)
Ann Neurol
, vol.49
, pp. 245-249
-
-
De Jonghe, P.1
Mersivanova, I.2
Nelis, E.3
Del Favero, J.4
Martin, J.J.5
Van Broeckhoven, C.6
Evgrafov, O.7
Timmerman, V.8
-
192
-
-
0031263931
-
Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
-
Zhu Q, Couillard-Despres S, Julien JP (1997) Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 148:299-316
-
(1997)
Exp Neurol
, vol.148
, pp. 299-316
-
-
Zhu, Q.1
Couillard-Despres, S.2
Julien, J.P.3
-
193
-
-
0028116467
-
A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
-
Lee MK, Marszalek JR, Cleveland DW (1994) A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 13:975-988
-
(1994)
Neuron
, vol.13
, pp. 975-988
-
-
Lee, M.K.1
Marszalek, J.R.2
Cleveland, D.W.3
-
194
-
-
0032816182
-
Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain
-
Soltysik-Espanola M, Rogers RA, Jiang S, Kim TA, Gaedigk R, White RA, Avraham H, Avraham S (1999) Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. Mol Biol Cell 10:2361-2375
-
(1999)
Mol Biol Cell
, vol.10
, pp. 2361-2375
-
-
Soltysik-Espanola, M.1
Rogers, R.A.2
Jiang, S.3
Kim, T.A.4
Gaedigk, R.5
White, R.A.6
Avraham, H.7
Avraham, S.8
-
195
-
-
0030757226
-
Drosophila kelch is an oligomeric ring canal actin organizer
-
Robinson DN, Cooley L (1997) Drosophila kelch is an oligomeric ring canal actin organizer. J Cell Biol 138:799-810
-
(1997)
J Cell Biol
, vol.138
, pp. 799-810
-
-
Robinson, D.N.1
Cooley, L.2
-
196
-
-
0017487351
-
Giant axonal neuropathy: A childhood disorder of microfilaments
-
Koch T, Schultz P, Williams R, Lampert P (1977) Giant axonal neuropathy: a childhood disorder of microfilaments. Ann Neurol 1:438-451
-
(1977)
Ann Neurol
, vol.1
, pp. 438-451
-
-
Koch, T.1
Schultz, P.2
Williams, R.3
Lampert, P.4
-
197
-
-
0028334489
-
Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
-
Treiber-Held S, Budjarjo-Welim H, Reimann D, Richter J, Kretzschmar HA, Hanefeld F (1994) Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. Neuropediatrics 25:89-93
-
(1994)
Neuropediatrics
, vol.25
, pp. 89-93
-
-
Treiber-Held, S.1
Budjarjo-Welim, H.2
Reimann, D.3
Richter, J.4
Kretzschmar, H.A.5
Hanefeld, F.6
-
198
-
-
0024385737
-
Giant axonal neuropathy. A review
-
Ouvrier RA (1989) Giant axonal neuropathy. A review. Brain Dev 11:207-214
-
(1989)
Brain Dev
, vol.11
, pp. 207-214
-
-
Ouvrier, R.A.1
-
199
-
-
0026580004
-
Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells
-
Waegh SM de, Lee VM, Brady ST (1992) Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 68:451-463
-
(1992)
Cell
, vol.68
, pp. 451-463
-
-
De Waegh, S.M.1
Lee, V.M.2
Brady, S.T.3
-
200
-
-
0032948050
-
Effects of PMP22 duplication and deletions on the axonal cytoskeleton
-
Sahenk Z, Chen L, Mendell JR (1999) Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 45:16-24
-
(1999)
Ann Neurol
, vol.45
, pp. 16-24
-
-
Sahenk, Z.1
Chen, L.2
Mendell, J.R.3
-
201
-
-
0034863510
-
Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice
-
Parkinson NJ, Olsson CL, Hallows JL, McKee-Johnson J, Keogh BP, Noben-Trauth K, Kujawa SG, Tempel BL (2001) Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet 20:20
-
(2001)
Nat Genet
, vol.20
, pp. 20
-
-
Parkinson, N.J.1
Olsson, C.L.2
Hallows, J.L.3
McKee-Johnson, J.4
Keogh, B.P.5
Noben-Trauth, K.6
Kujawa, S.G.7
Tempel, B.L.8
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