-
1
-
-
0028784820
-
Hypermyclination and demyclinating peripheral neuropathy in Pmp22-deficient mice
-
Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyclination and demyclinating 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
-
2
-
-
0025885341
-
Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum
-
Bonifacino JS, Cosson P, Shah N, Klausner RD (1991) Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum. EMBO J 10:2783-2793.
-
(1991)
EMBO J
, vol.10
, pp. 2783-2793
-
-
Bonifacino, J.S.1
Cosson, P.2
Shah, N.3
Klausner, R.D.4
-
3
-
-
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, Müller 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
Müller, H.W.6
-
4
-
-
0018381233
-
Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve
-
Brockes JP, Fields KL, Raff MC (1979) Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve. Brain Res 165:105-118.
-
(1979)
Brain Res
, vol.165
, pp. 105-118
-
-
Brockes, J.P.1
Fields, K.L.2
Raff, M.C.3
-
5
-
-
0026696189
-
Age-dependent changes in the oligosaccharide structure of the major myelin glycoprotein
-
Brunden KR (1992) Age-dependent changes in the oligosaccharide structure of the major myelin glycoprotein. P0. J Neurochem 58:1659-1666.
-
(1992)
P0. J Neurochem
, vol.58
, pp. 1659-1666
-
-
Brunden, K.R.1
-
6
-
-
0023110720
-
Lysosomal delivery of the major myelin glycoprotein in the absence of myelin assembly: Posttranslational regulation of the level of expression by Schwann cells
-
Brunden KR, Poduslo JF (1987) Lysosomal delivery of the major myelin glycoprotein in the absence of myelin assembly: posttranslational regulation of the level of expression by Schwann cells. J Cell Biol 104:661-669.
-
(1987)
J Cell Biol
, vol.104
, pp. 661-669
-
-
Brunden, K.R.1
Poduslo, J.F.2
-
7
-
-
0025014582
-
Catabolic regulation of the expression of the major myelin glycoprotein by Schwann cells in culture
-
Brunden KR, Windebank AJ, Poduslo JF (1990a) Catabolic regulation of the expression of the major myelin glycoprotein by Schwann cells in culture. J Neurochem 54:459-466.
-
(1990)
J Neurochem
, vol.54
, pp. 459-466
-
-
Brunden, K.R.1
Windebank, A.J.2
Poduslo, J.F.3
-
8
-
-
0025358898
-
Role of axons in the regulation of P0 biosynthesis by Schwann cells
-
Brunden KR, Windebank AJ, Poduslo JF (1990b) Role of axons in the regulation of P0 biosynthesis by Schwann cells. J Neurosci Res 26:135-143.
-
(1990)
J Neurosci Res
, vol.26
, pp. 135-143
-
-
Brunden, K.R.1
Windebank, A.J.2
Poduslo, J.F.3
-
9
-
-
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
-
10
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3:223-228.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
11
-
-
0028200642
-
SR13/PMP-22 expression in rat nervous system, in PC12 cells, and C6 glial cell lines
-
De Leon M, Nahin RL, Mendoza ME, Ruda MA (1994) SR13/PMP-22 expression in rat nervous system, in PC12 cells, and C6 glial cell lines. J Neurosci Res 38:167-181.
-
(1994)
J Neurosci Res
, vol.38
, pp. 167-181
-
-
De Leon, M.1
Nahin, R.L.2
Mendoza, M.E.3
Ruda, M.A.4
-
12
-
-
0018101702
-
Isolation and partial characterization of rat CNS axolemma enriched fractions
-
DeVries GH, Matthieu J, Beny M, Chicheportiche R, Lazdunski M, Dolivo M (1978) Isolation and partial characterization of rat CNS axolemma enriched fractions. Brain Res 147:339-352.
-
(1978)
Brain Res
, vol.147
, pp. 339-352
-
-
Devries, G.H.1
Matthieu, J.2
Beny, M.3
Chicheportiche, R.4
Lazdunski, M.5
Dolivo, M.6
-
13
-
-
0027445652
-
Axonal regulation of Schwann cell integrin expression suggests a role for alpha 6 beta 4 in myelination
-
Einheber S, Milner TA, Giancotti F, Salzer JL (1993) Axonal regulation of Schwann cell integrin expression suggests a role for alpha 6 beta 4 in myelination. J Cell Biol 123:1223-1236.
-
(1993)
J Cell Biol
, vol.123
, pp. 1223-1236
-
-
Einheber, S.1
Milner, T.A.2
Giancotti, F.3
Salzer, J.L.4
-
14
-
-
0001010274
-
Tissue culture methods for the study of myelination
-
Banker G, Goslin K, eds. Cambridge, MA: Massachusetts Institute of Technology
-
Kleitman N, Wood PM, Bunge RP (1991) Tissue culture methods for the study of myelination. In: Culturing nerve cells (Banker G, Goslin K, eds). pp 337-378. Cambridge, MA: Massachusetts Institute of Technology.
-
(1991)
Culturing Nerve Cells
, pp. 337-378
-
-
Kleitman, N.1
Wood, P.M.2
Bunge, R.P.3
-
15
-
-
0029052144
-
Progesterone synthesis and myelin formation by Schwann cells
-
Koenig HL, Schumacher M, Ferzaz B, Do Thi AN, Ressouches A, Guennoun R, Jung-Testas I, Robel P, Akwa Y, Baulieu E-E (1995) Progesterone synthesis and myelin formation by Schwann cells. Science 268:1500-1503.
-
(1995)
Science
, vol.268
, pp. 1500-1503
-
-
Koenig, H.L.1
Schumacher, M.2
Ferzaz, B.3
Do Thi, A.N.4
Ressouches, A.5
Guennoun, R.6
Jung-Testas, I.7
Robel, P.8
Akwa, Y.9
Baulieu, E.-E.10
-
16
-
-
0021891884
-
Assembly of asparagine-linked oligosac-charides
-
Kornfeld R, Kornfeld S (1985) Assembly of asparagine-linked oligosac-charides. Annu Rev Biochem 54:631-664.
-
(1985)
Annu Rev Biochem
, vol.54
, pp. 631-664
-
-
Kornfeld, R.1
Kornfeld, S.2
-
17
-
-
0026088579
-
An alternatively spliced miniexon alters the subcellular fate of the human asialoglycoprotein receptor H2 subunit. Endoplasmic reticulum retention and degradation or cell surface expression
-
Lederkremer GZ, Lodish HF (1991) An alternatively spliced miniexon alters the subcellular fate of the human asialoglycoprotein receptor H2 subunit. Endoplasmic reticulum retention and degradation or cell surface expression. J Biol Chem 266:1237-1244.
-
(1991)
J Biol Chem
, vol.266
, pp. 1237-1244
-
-
Lederkremer, G.Z.1
Lodish, H.F.2
-
18
-
-
0023864835
-
Axons regulate Schwann cell expression of the major myelin and NGF receptor genes
-
Lemke G, Chao M (1988) Axons regulate Schwann cell expression of the major myelin and NGF receptor genes. Development 102:499-504.
-
(1988)
Development
, vol.102
, pp. 499-504
-
-
Lemke, G.1
Chao, M.2
-
20
-
-
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
-
21
-
-
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
-
22
-
-
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, While R, Chance PF (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
While, R.10
Chance, P.F.11
-
23
-
-
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
-
24
-
-
0028047115
-
Kin recognition between medial Golgi enzymes in HeLa cells
-
Nilsson T, Hoe MH, Slusarewicz P, Rabouille C, Watson R, Hunte F, Watzele G, Berger EG, Warren G (1994) Kin recognition between medial Golgi enzymes in HeLa cells. EMBO J 13:562-574.
-
(1994)
EMBO J
, vol.13
, pp. 562-574
-
-
Nilsson, T.1
Hoe, M.H.2
Slusarewicz, P.3
Rabouille, C.4
Watson, R.5
Hunte, F.6
Watzele, G.7
Berger, E.G.8
Warren, G.9
-
25
-
-
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
-
26
-
-
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
-
27
-
-
0029075810
-
Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons
-
Parmantier E, Canon F, Braun C, D'Urso D, Müller 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
Canon, F.2
Braun, C.3
D'Urso, D.4
Müller, H.W.5
Zalc, B.6
-
28
-
-
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, Lupski JR, Suter U (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
Lupski, J.R.11
Suter, U.12
-
29
-
-
0021330574
-
Regulation of myelination: Biosynthesis of the major myelin glycoprotein by Schwann cells in the presence and absence of myelin assembly
-
Poduslo JF (1984) Regulation of myelination: biosynthesis of the major myelin glycoprotein by Schwann cells in the presence and absence of myelin assembly. J Neurochem 42:493-503.
-
(1984)
J Neurochem
, vol.42
, pp. 493-503
-
-
Poduslo, J.F.1
-
30
-
-
0021995589
-
Regulation of myelination: Schwann cell transition from a myelin-maintaining state to a quiescent state after permanent nerve transaction
-
Poduslo JF, Dyck PJ, Berg CT (1985) Regulation of myelination: Schwann cell transition from a myelin-maintaining state to a quiescent state after permanent nerve transaction. J Neurochem 44:388-400.
-
(1985)
J Neurochem
, vol.44
, pp. 388-400
-
-
Poduslo, J.F.1
Dyck, P.J.2
Berg, C.T.3
-
31
-
-
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, Lupski JR (1993a) 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
Lupski, J.R.11
-
32
-
-
0027489565
-
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
-
Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR (1993b) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 5:189-194.
-
(1993)
Nat Genet
, vol.5
, pp. 189-194
-
-
Roa, B.B.1
Garcia, C.A.2
Pentao, L.3
Killian, J.M.4
Trask, B.J.5
Suter, U.6
Snipes, G.J.7
Ortiz-Lopez, R.8
Shooter, E.M.9
Patel, P.I.10
Lupski, J.R.11
-
33
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
-
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993c) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5:269-273.
-
(1993)
Nat Genet
, vol.5
, pp. 269-273
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
34
-
-
0029411032
-
Myelin genes: Getting the dosage right
-
Scherer SS, Chance PF (1995) Myelin genes: getting the dosage right. Nat Genet 11:226-228.
-
(1995)
Nat Genet
, vol.11
, pp. 226-228
-
-
Scherer, S.S.1
Chance, P.F.2
-
35
-
-
15844393894
-
A transgenic rat model of Charcot-Marie-Tooth disease
-
Sereda M, Griffiths I, Pühlhofer A, Stewart H, Rossner MJ, Zimmermann F, Magyar JP, Schneider A, Hund E, Meinck H-M, Suter U, Nave K-A (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16:1049-1060.
-
(1996)
Neuron
, vol.16
, pp. 1049-1060
-
-
Sereda, M.1
Griffiths, I.2
Pühlhofer, 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
-
36
-
-
0029014126
-
Molecular anatomy and genetics of myelin proteins in the peripheral nervous system
-
Snipes GJ, Suter U (1995) Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anal 186:483-494.
-
(1995)
J Anal
, vol.186
, pp. 483-494
-
-
Snipes, G.J.1
Suter, U.2
-
37
-
-
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
-
38
-
-
0027425265
-
Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope
-
Snipes GJ, Suter U, Shooter EM (1993) Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. J Neurochem 61:1961-1964.
-
(1993)
J Neurochem
, vol.61
, pp. 1961-1964
-
-
Snipes, G.J.1
Suter, U.2
Shooter, E.M.3
-
39
-
-
0026605507
-
Trembler mouse carries a point mutation in a myelin gene
-
Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM (1992a) 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-Gagliardi, S.7
Sidman, R.L.8
Shooter, E.M.9
-
40
-
-
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 (1992b) 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
-
41
-
-
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
-
42
-
-
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
-
43
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 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, De Jonghe P, Raeymaekers P, van Ommen G-JB, Martin J-J, Müller HW, Vance JM, Fischbeck KH, Van Broeckhoven C (1992) The peripheral myelin protein gene PMP-22 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
De Jonghe, P.11
Raeymaekers, P.12
Van Ommen, G.-J.B.13
Martin, J.-J.14
Müller, H.W.15
Vance, J.M.16
Fischbeck, K.H.17
Van Broeckhoven, C.18
-
44
-
-
0009482260
-
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
-
Towbin H, Staehelin T, Gordon J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc Natl Acad Sci USA 76:4350-4354.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 4350-4354
-
-
Towbin, H.1
Staehelin, T.2
Gordon, J.3
-
45
-
-
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, van den Bosch N, Hensels GW, Stanton Jr VP, Housman DE, Fischbeck KH, Ross DA, Nicholson GA, Meershoek EJ, Dauwerse HG, van Ommen G-JB, Baas F (1992a) 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
Nicholson, G.A.11
Meershoek, E.J.12
Dauwerse, H.G.13
Van Ommen, G.-J.B.14
Baas, F.15
-
46
-
-
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, van den Bosch NHA, Zorn I, Gabreëls-Festen AAWM, de Visser M, Bolhuis PA (1992b) 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, A.A.W.M.5
Zorn, I.6
Gabreëls-Festen, N.H.A.7
De Visser, M.8
Bolhuis, P.A.9
-
47
-
-
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, Kolodny 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
Kolodny, 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
-
48
-
-
0026514050
-
Endoplasmic reticulum degradation of a subunit of the asialoglycoprotein receptor in vitro. Vesicular transport from endoplasmic reticulum is unnecessary
-
Wikström L, Lodish HF (1992) Endoplasmic reticulum degradation of a subunit of the asialoglycoprotein receptor in vitro. Vesicular transport from endoplasmic reticulum is unnecessary. J Biol Chem 267:5-8.
-
(1992)
J Biol Chem
, vol.267
, pp. 5-8
-
-
Wikström, L.1
Lodish, H.F.2
-
49
-
-
0027767659
-
Two pathways for the degradation of the H2 subunit of the asialoglycoprotein receptor in the endoplasmic reticulum
-
Yuk MH, Lodish HF (1993) Two pathways for the degradation of the H2 subunit of the asialoglycoprotein receptor in the endoplasmic reticulum. J Cell Biol 123:1735-1749.
-
(1993)
J Cell Biol
, vol.123
, pp. 1735-1749
-
-
Yuk, M.H.1
Lodish, H.F.2
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