-
1
-
-
0028784820
-
Hypermyelination and demyelinating peripheral neuropathy inPmp22
-
Adlkofer K., Martini R., Aguzzi A., Zielasek J., Toyka K. V., Suter U. Hypermyelination and demyelinating peripheral neuropathy inPmp22. Nature Genet. 11:1995;274-280.
-
(1995)
Nature 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
-
-
0017593352
-
Abnormal myelination in transplanted trembler mouse Schwann cells
-
Aguayo A. J., Attiwell M., Trecarten J., Perkins S., Bray G. M. Abnormal myelination in transplanted trembler mouse Schwann cells. Nature. 265:1977;73-75.
-
(1977)
Nature
, vol.265
, pp. 73-75
-
-
Aguayo, A.J.1
Attiwell, M.2
Trecarten, J.3
Perkins, S.4
Bray, G.M.5
-
3
-
-
0015785567
-
Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man
-
Ayers M. M., Anderson R. M. Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man. Acta Neuropathol. 25:1973;54-70.
-
(1973)
Acta Neuropathol.
, vol.25
, pp. 54-70
-
-
Ayers, M.M.1
Anderson, R.M.2
-
4
-
-
0029588323
-
Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development
-
Baechner D., Liehr T., Hameister H., Altenberger H., Grehl H., Suter U., Rautenstrauss B. Widespread expression of the peripheral myelin protein-22 gene (PMP22) in the neural and non-neural tissues during murine development. J. Neurosci. Res. 42:1995;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
-
5
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J., Scherer S. S., Wang S., Oronzi Scott M., Bone L. J., Chen K., Lensch M. W., Chance P. F., Fischbeck K. H. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 262:1993;2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi Scott, M.4
Bone, L.J.5
Chen, K.6
Lensch, M.W.7
Chance, P.F.8
Fischbeck, K.H.9
-
6
-
-
0027986675
-
Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
-
Boison D., Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc. Natl. Acad. Sci. USA. 91:1994;11709-11713.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 11709-11713
-
-
Boison, D.1
Stoffel, W.2
-
7
-
-
0028268350
-
Differential expression of two mRNA species indicates a dual function of the peripheral myelin protein PMP22 in cell growth and myelination
-
Bosse F., Zoidl G., Wilms S., Gillen C. P., Kuhn H. G., Muller H. W. Differential expression of two mRNA species indicates a dual function of the peripheral myelin protein PMP22 in cell growth and myelination. J. Neurosci. Res. 37:1994;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
-
8
-
-
0029997484
-
Role of microglia and host prion protein in neurotoxicity of a prion protein fragment
-
Brown D. R., Schmidt B., Kretzschmar H. A. Role of microglia and host prion protein in neurotoxicity of a prion protein fragment. Nature. 380:1996;345-347.
-
(1996)
Nature
, vol.380
, pp. 345-347
-
-
Brown, D.R.1
Schmidt, B.2
Kretzschmar, H.A.3
-
9
-
-
0030250207
-
The cellular internet: On-line with connexins
-
Bruzzone R., White T. W., Goodenough D. A. The cellular internet: On-line with connexins. BioEssays. 18:1996;709-718.
-
(1996)
BioEssays
, vol.18
, pp. 709-718
-
-
Bruzzone, R.1
White, T.W.2
Goodenough, D.A.3
-
10
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance P. F., Alderson M. K., Leppig K. A., Lensch M. W., Matsunami N., Smith B., Swanson P. D., Odelberg S. J., Disteche C. M., Bird T. D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72:1993;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
-
11
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng S. H., Gregory R. J., Marshall J., Paul S., Souza D. W., White G. A., O'Riordan C. R., Smith A. E. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell. 63:1990;827-834.
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
White, G.A.6
O'Riordan, C.R.7
Smith, A.E.8
-
12
-
-
0026781952
-
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
-
Denning G. M., Anderson M. P., Amara J. F., Marshall J., Smith A. E., Welsh M. J. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature. 358:1992;761-764.
-
(1992)
Nature
, vol.358
, pp. 761-764
-
-
Denning, G.M.1
Anderson, M.P.2
Amara, J.F.3
Marshall, J.4
Smith, A.E.5
Welsh, M.J.6
-
13
-
-
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. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev. 9:1995;1846-1856.
-
(1995)
Genes Dev.
, vol.9
, pp. 1846-1856
-
-
Fabbretti, E.1
Edomi, P.2
Brancolini, C.3
Schneider, C.4
-
14
-
-
65749318026
-
Two new mutants, "trembler" and "reeler" with neurological actions in the house mouse
-
Falconer D. S. Two new mutants, "Trembler" and "Reeler" with neurological actions in the house mouse. Genetics. 50:1951;192-201.
-
(1951)
Genetics
, vol.50
, pp. 192-201
-
-
Falconer, D.S.1
-
15
-
-
0026615047
-
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
-
Giese K. P., Martini R., Lemke G., Soriano P., Schachner M. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell. 71:1992;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
-
16
-
-
0028287054
-
Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein
-
Gow A., Friedrich V. L., Lazzarini R. A. Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J. Neurosci. Res. 37:1994a;563-573.
-
(1994)
J. Neurosci. Res.
, vol.37
, pp. 563-573
-
-
Gow, A.1
Friedrich, V.L.2
Lazzarini, R.A.3
-
17
-
-
0028226949
-
Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport
-
Gow A., Friedrich V. L., Lazzarini R. A. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J. Neurosci. Res. 37:1994b;574-583.
-
(1994)
J. Neurosci. Res.
, vol.37
, pp. 574-583
-
-
Gow, A.1
Friedrich, V.L.2
Lazzarini, R.A.3
-
18
-
-
0030036917
-
A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
-
Gow A., Lazzarini R. A. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nature Genet. 13:1996;422-428.
-
(1996)
Nature Genet.
, vol.13
, pp. 422-428
-
-
Gow, A.1
Lazzarini, R.A.2
-
19
-
-
0029080438
-
Transgenic and natural mouse models of proteolipid protein (PLP)-related dysmyelination and demyelination
-
Griffiths I. R., Schneider A., Anderson J., Nave K. A. Transgenic and natural mouse models of proteolipid protein (PLP)-related dysmyelination and demyelination. Brain Pathol. 5:1995;275-281.
-
(1995)
Brain Pathol.
, vol.5
, pp. 275-281
-
-
Griffiths, I.R.1
Schneider, A.2
Anderson, J.3
Nave, K.A.4
-
20
-
-
0030271561
-
Myelin mutants: Model systems for the study of normal an abnormal myelination
-
Griffiths I. R. Myelin mutants: Model systems for the study of normal an abnormal myelination. BioEssays. 18:1996;789-797.
-
(1996)
BioEssays
, vol.18
, pp. 789-797
-
-
Griffiths, I.R.1
-
21
-
-
0029912334
-
Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A
-
Haney C., Snipes G. J., Shooter E. M., Suter U., Garcia C., Griffin J. W., Trapp B. D. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J. Neuropathol. Exp. Neurol. 55:1996;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
-
22
-
-
0028908516
-
Direct evidence of oxidative injury produced by the Alzheimer's beta-amyloid peptide (1-40) in cultured hippocampal neurons
-
Harris M. E., Hensley K., Butterfield D. A., Leedle R. A., Carney J. M. Direct evidence of oxidative injury produced by the Alzheimer's beta-amyloid peptide (1-40) in cultured hippocampal neurons. Exp. Neurol. 131:1995;193-202.
-
(1995)
Exp. Neurol.
, vol.131
, pp. 193-202
-
-
Harris, M.E.1
Hensley, K.2
Butterfield, D.A.3
Leedle, R.A.4
Carney, J.M.5
-
23
-
-
0023794823
-
Long lives for homozygous trembler mutant mice despite virtual absence of peripheral myelin
-
Henry E. W., Sidman R. L. Long lives for homozygous trembler mutant mice despite virtual absence of peripheral myelin. Science. 241:1988;344-346.
-
(1988)
Science
, vol.241
, pp. 344-346
-
-
Henry, E.W.1
Sidman, R.L.2
-
24
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
Hobbs H. H., Russell D. W., Brown M. S., Goldstein J. L. The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein. Annu. Rev. Genet. 24:1990;133-170.
-
(1990)
Annu. Rev. Genet.
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
26
-
-
0021986367
-
Myelin-associated glycoprotein and other proteins in Trembler mice
-
Inuzuka T., Quarles R. H., Heath J., Trapp B. D. Myelin-associated glycoprotein and other proteins in Trembler mice. J. Neurochem. 44:1985;793-797.
-
(1985)
J. Neurochem.
, vol.44
, pp. 793-797
-
-
Inuzuka, T.1
Quarles, R.H.2
Heath, J.3
Trapp, B.D.4
-
27
-
-
0028788494
-
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene
-
Ionasescu V. V., Ionasescu R., Searby C., Neahring R. Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology. 45:1995;1766-1767.
-
(1995)
Neurology
, vol.45
, pp. 1766-1767
-
-
Ionasescu, V.V.1
Ionasescu, R.2
Searby, C.3
Neahring, R.4
-
28
-
-
0028858161
-
Multiple proteolytic systems, including the proteasome, contribute to CFTR processing
-
Jensen T. J., Loo M. A., Pind S., Williams D. B., Goldberg A. L., Riordan J. R. Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell. 83:1995;129-135.
-
(1995)
Cell
, vol.83
, pp. 129-135
-
-
Jensen, T.J.1
Loo, M.A.2
Pind, S.3
Williams, D.B.4
Goldberg, A.L.5
Riordan, J.R.6
-
29
-
-
0029845073
-
Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): Evidence that PLP misfolding underlies dysmyelination in mutant mice
-
Jung M., Sommer I., Schachner M., Nave K.-A. Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): Evidence that PLP misfolding underlies dysmyelination in mutant mice. J. Neurosci. 16:1996;7920-7929.
-
(1996)
J. Neurosci.
, vol.16
, pp. 7920-7929
-
-
Jung, M.1
Sommer, I.2
Schachner, M.3
Nave, K.-A.4
-
30
-
-
0017147462
-
Purification and partial characterization of two glycoproteins in bovine peripheral nerve myelin membrane
-
Kitamura K., Suzuki M., Uyemura K. Purification and partial characterization of two glycoproteins in bovine peripheral nerve myelin membrane. Biochim. Biophys. Acta. 455:1976;806-816.
-
(1976)
Biochim. Biophys. Acta
, vol.455
, pp. 806-816
-
-
Kitamura, K.1
Suzuki, M.2
Uyemura, K.3
-
31
-
-
0031037761
-
Assembly of CNS myelin in the absence of proteolipid protein
-
Klugmann M., Schwab M. H., Pühlhofer A., Schneider A., Zimmermann F., Griffiths I. R., Nave K.-A. Assembly of CNS myelin in the absence of proteolipid protein. Neuron. 18:1997;59-70.
-
(1997)
Neuron
, vol.18
, pp. 59-70
-
-
Klugmann, M.1
Schwab, M.H.2
Pühlhofer, A.3
Schneider, A.4
Zimmermann, F.5
Griffiths, I.R.6
Nave, K.-A.7
-
32
-
-
0025721851
-
Schwann cell proliferation during postnatal development, Wallerian degeneration and axon regeneration in trembler dysmyelinating mutant
-
New York: Plenum. p. 227-238
-
Koenig H., Do Thi A., Ferzaz B., Ressouches A. Schwann cell proliferation during postnatal development, Wallerian degeneration and axon regeneration in trembler dysmyelinating mutant. Plasticity and Regeneration of the Nervous System. 1991;Plenum, New York. p. 227-238.
-
(1991)
Plasticity and Regeneration of the Nervous System
-
-
Koenig, H.1
Do Thi, A.2
Ferzaz, B.3
Ressouches, A.4
-
33
-
-
0024788009
-
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase
-
Lau M. M., Neufeld E. F. A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase. J. Biol. Chem. 264:1989;21376-21380.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 21376-21380
-
-
Lau, M.M.1
Neufeld, E.F.2
-
34
-
-
0016784725
-
Hereditary demyelinating neuropathy in the trembler mouse
-
Low P. A., McLeod J. G. Hereditary demyelinating neuropathy in the trembler mouse. J. Neurol. Sci. 26:1975;565-575.
-
(1975)
J. Neurol. Sci.
, vol.26
, pp. 565-575
-
-
Low, P.A.1
McLeod, J.G.2
-
35
-
-
0017194584
-
Hereditary hypertrophic neuropathy in the trembler mouse: Part 2: Histopathological studies: Electron microscopy
-
Low P. A. Hereditary hypertrophic neuropathy in the trembler mouse: Part 2: Histopathological studies: Electron microscopy. J. Neurol. Sci. 30:1976;343-368.
-
(1976)
J. Neurol. Sci.
, vol.30
, pp. 343-368
-
-
Low, P.A.1
-
36
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski J. R., de Oca Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., Saucedo-Cardenas O., Barker D. F., Killian J. M., Garcia C. A., Chakravarti A., Patel P. I. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66:1991;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
-
37
-
-
0029843863
-
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
-
Magyar J. P., Martini R., Ruelicke T., Aguzzi A., Adlkofer K., Dembic Z., Zielasek J., Toyka K. V., Suter U. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16:1996;5331-5360.
-
(1996)
J. Neurosci.
, vol.16
, pp. 5331-5360
-
-
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
-
38
-
-
0025328309
-
A growth arrest-specific (gas) gene codes for a membrane protein
-
Manfioletti G., Ruaro M. E., Del Sal G., Philipson L., Schneider C. A growth arrest-specific (gas) gene codes for a membrane protein. Mol. Cell. Biol. 10:1990;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
-
39
-
-
0028824925
-
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
-
Martini R., Zielasek J., Toyka K. V., Giese K. P., Schachner M. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nature Genet. 11:1995;281-286.
-
(1995)
Nature Genet.
, vol.11
, pp. 281-286
-
-
Martini, R.1
Zielasek, J.2
Toyka, K.V.3
Giese, K.P.4
Schachner, M.5
-
40
-
-
0028841888
-
Identification and characterization of a novel squamous cell-associated gene related to PMP22
-
Marvin K. W., Fujimoto W., Jetten A. M. Identification and characterization of a novel squamous cell-associated gene related to PMP22. J. Biol. Chem. 270:1995;28910-28916.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 28910-28916
-
-
Marvin, K.W.1
Fujimoto, W.2
Jetten, A.M.3
-
41
-
-
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 M. W., Robertson M., Albertsen H., Hanemann C. O., Muller H. W., Bird T. D., White R., Chance P. F. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet. 1:1992;176-179.
-
(1992)
Nature 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
Chance, P.F.11
-
42
-
-
0030012076
-
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease
-
Navon R., Seifried B., Gal-On N. S., Sadeh M. A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. Hum. Genet. 97:1996;685-687.
-
(1996)
Hum. Genet.
, vol.97
, pp. 685-687
-
-
Navon, R.1
Seifried, B.2
Gal-On, N.S.3
Sadeh, M.4
-
43
-
-
0029977355
-
Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
-
Omori Y., Mesnil M., Yamasaki H. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects. Mol. Biol. Cell. 7:1996;907-916.
-
(1996)
Mol. Biol. Cell
, vol.7
, pp. 907-916
-
-
Omori, Y.1
Mesnil, M.2
Yamasaki, H.3
-
44
-
-
0027196844
-
Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells
-
Pareek S., Suter U., Snipes G. J., Welcher A. A., Shooter E. M., Murphy R. A. Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J. Biol. Chem. 268:1993;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
-
45
-
-
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., Müller H. W., Zalc B. Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons. Eur. J. Neurosci. 7:1995;1080-1088.
-
(1995)
Eur. J. Neurosci.
, vol.7
, pp. 1080-1088
-
-
Parmantier, E.1
Cabon, F.2
Braun, C.3
D'Urso, D.4
Müller, H.W.5
Zalc, B.6
-
46
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel P. I., Roa B. B., Welcher A. A., Schoener-Scott R., Trask B. J., Pentao L., Snipes G. J., Garcia C. A., Francke U., Shooter E. M., Lupski J. R., Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:1992;159-165.
-
(1992)
Nature 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
-
48
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
-
Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., De Visser M., Bolhuis P. A., Van Broeckhoven C. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul. Disord. 1:1991;93-97.
-
(1991)
The HMSN Collaborative Research Group. Neuromuscul. Disord.
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
49
-
-
0026352126
-
Cotransformation and gene targeting in mouse embryonic stem cells
-
Reid L. H., Shesely E. G., Kim H. S., Smithies O. Cotransformation and gene targeting in mouse embryonic stem cells. Mol. Cell. Biol. 11:1991;2769-2777.
-
(1991)
Mol. Cell. Biol.
, vol.11
, pp. 2769-2777
-
-
Reid, L.H.1
Shesely, E.G.2
Kim, H.S.3
Smithies, O.4
-
50
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
-
Roa B. B., Garcia C. A., Suter U., Kulpa D. A., Wise C. A., Mueller J., Welcher A. A., Snipes G. J., Shooter E. M., Patel P. I., Lupski J. R. Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene. N. Engl. J. Med. 329:1993a;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
-
51
-
-
0027489565
-
Evidence for a recessivePMP22
-
Roa B. B., Garcia C. A., Pentao L., Killian J. M., Trask B. J., Suter U., Snipes G. J., Shooter E. M., Patel P. I., Lupski J. R. Evidence for a recessivePMP22. Nature Genet. 5:1993b;189-194.
-
(1993)
Nature 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
Shooter, E.M.8
Patel, P.I.9
Lupski, J.R.10
-
52
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22
-
Roa B. B., Dyck P. J., Marks H. G., Chance P. F., Lupski J. R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22. Nature Genet. 5:1993c;269-272.
-
(1993)
Nature Genet.
, vol.5
, pp. 269-272
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
53
-
-
0030003015
-
B4B, a novel growth-arrest gene, is expressed by a subset of progenitor/pre-B lymphocytes negative for cytoplasmic μ-chain
-
Ruegg C. L., Wu H., Fagnoni F. F., Engleman E. G., Laus R. B4B, a novel growth-arrest gene, is expressed by a subset of progenitor/pre-B lymphocytes negative for cytoplasmic μ-chain. J. Immunol. 157:1996;72-80.
-
(1996)
J. Immunol.
, vol.157
, pp. 72-80
-
-
Ruegg, C.L.1
Wu, H.2
Fagnoni, F.F.3
Engleman, E.G.4
Laus, R.5
-
54
-
-
0029563471
-
Connexin32 is a myelin-related protein in the PNS and CNS
-
Scherer S. S., Deschenes S. M., Xu Y.-T., Grinspan J. B., Fischbeck K. H., Paul D. L. Connexin32 is a myelin-related protein in the PNS and CNS. J. Neurosci. 15:1995;8281-8294.
-
(1995)
J. Neurosci.
, vol.15
, pp. 8281-8294
-
-
Scherer, S.S.1
Deschenes, S.M.2
Xu, Y.-T.3
Grinspan, J.B.4
Fischbeck, K.H.5
Paul, D.L.6
-
55
-
-
0029145584
-
Neuropathology and genetics of Pelizaeus-Merzbacher disease
-
Seitelberger F. Neuropathology and genetics of Pelizaeus-Merzbacher disease. Brain Pathol. 5:1995;267-273.
-
(1995)
Brain Pathol.
, vol.5
, pp. 267-273
-
-
Seitelberger, F.1
-
56
-
-
15844393894
-
A transgenic rat model of Charcot-Marie-Tooth disease
-
Sereda M., Griffiths I., Pühlhofer A., Stewart H., Rossner M. J., Zimmermann F., Magyar J. P., Schneider A., Hund E., Meinck H.-M., Suter U., Nave K.-A. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron. 16:1996;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
-
57
-
-
0029117551
-
Programmed cell death in the dysmyelinating mutants
-
Skoff R. P. Programmed cell death in the dysmyelinating mutants. Brain Pathol. 5:1995;283-288.
-
(1995)
Brain Pathol.
, vol.5
, pp. 283-288
-
-
Skoff, R.P.1
-
58
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
-
Snipes G. J., Suter U., Welcher A. A., Shooter E. M. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell Biol. 117:1992;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
-
59
-
-
0027425265
-
Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate epitope
-
Snipes G. J., Suter U., Shooter E. M. Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate epitope. J. Neurochem. 61:1993;1961-1964.
-
(1993)
J. Neurochem.
, vol.61
, pp. 1961-1964
-
-
Snipes, G.J.1
Suter, U.2
Shooter, E.M.3
-
60
-
-
0029093622
-
Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models
-
Snipes G. J., Suter U. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Pathol. 5:1995;233-247.
-
(1995)
Brain Pathol.
, vol.5
, pp. 233-247
-
-
Snipes, G.J.1
Suter, U.2
-
61
-
-
0025917462
-
Intracompartmental sorting of essential myosin light chains: Molecular dissection andin vivo
-
Soldati T., Perriard J. C. Intracompartmental sorting of essential myosin light chains: Molecular dissection andin vivo. Cell. 66:1991;277-289.
-
(1991)
Cell
, vol.66
, pp. 277-289
-
-
Soldati, T.1
Perriard, J.C.2
-
62
-
-
0025942098
-
Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific" gene
-
Spreyer P., Kuhn G., Hanemann C. O., Gillen C., Schaal H., Kuhn R., Lemke G., Muller H. W. Axon-regulated expression of a Schwann cell transcript that is homologous to a "growth arrest-specific" gene. EMBO J. 10:1991;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
-
63
-
-
0029741521
-
Molecular physiology, biochemistry, and pharmacology of Alzheimer's amyloid precursor protein (APP)
-
Suh Y. H., Chong Y. H., Kim S. H., Choi W., Min K., Jeong S. J., Fraser S. P., Djamgoz M. B. Molecular physiology, biochemistry, and pharmacology of Alzheimer's amyloid precursor protein (APP). Ann. N. Y. Acad. Sci. 786:1996;169-183.
-
(1996)
Ann. N. Y. Acad. Sci.
, vol.786
, pp. 169-183
-
-
Suh, Y.H.1
Chong, Y.H.2
Kim, S.H.3
Choi, W.4
Min, K.5
Jeong, S.J.6
Fraser, S.P.7
Djamgoz, M.B.8
-
64
-
-
0026605507
-
Trembler mouse carries a point mutation in a myelin gene
-
Suter U., Welcher A. A., Ozcelik T., Snipes G. J., Kosaras B., Francke U., Billings-Gagliardi S., Sidman R. L., Shooter E. M. Trembler mouse carries a point mutation in a myelin gene. Nature. 356:1992a;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
-
65
-
-
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 J. J., Welcher A. A., Snipes G. J., Kosaras B., Sidman R. L., Buchberg A. M., Shooter E. M. 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. 89:1992b;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
-
66
-
-
0027459799
-
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
-
Suter U., Welcher A. A., Snipes G. J. Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci. 16:1993;50-56.
-
(1993)
Trends Neurosci.
, vol.16
, pp. 50-56
-
-
Suter, U.1
Welcher, A.A.2
Snipes, G.J.3
-
67
-
-
0028073907
-
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22
-
Suter U., Snipes G. J., Schoener-Scott R., Welcher A. A., Pareek S., Lupski J. R., Murphy R. A., Shooter E. M., Patel P. I. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22. J. Biol. Chem. 269:1994;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
-
68
-
-
0028851362
-
Peripheral myelin protein 22: Facts and hypotheses
-
Suter U., Snipes G. J. Peripheral myelin protein 22: Facts and hypotheses. J. Neurosci. Res. 40:1995;145-151.
-
(1995)
J. Neurosci. Res.
, vol.40
, pp. 145-151
-
-
Suter, U.1
Snipes, G.J.2
-
69
-
-
0028793694
-
Epithelial membrane protein-1, peripheral myelin protein 22 and lens membrane protein 20 define a novel gene family
-
Taylor V., Welcher A. A., Suter U. Epithelial membrane protein-1, peripheral myelin protein 22 and lens membrane protein 20 define a novel gene family. J. Biol. Chem. 270:1995;28824-28833.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 28824-28833
-
-
Taylor, V.1
Welcher, A.A.2
Suter, U.3
-
70
-
-
0030579151
-
Epithelial membrane protein-2 and epithelial membrane protein-3: Two novel members of the peripheral myelin protein 22 gene family
-
Taylor V., Suter U. Epithelial membrane protein-2 and epithelial membrane protein-3: Two novel members of the peripheral myelin protein 22 gene family. Gene. 175:1996;115-120.
-
(1996)
Gene
, vol.175
, pp. 115-120
-
-
Taylor, V.1
Suter, U.2
-
71
-
-
0028856292
-
Defective protein folding as a basis of human disease
-
Thomas P. J., Qu B.-H., Pedersen L. P. Defective protein folding as a basis of human disease. Trends Biochem. 20:1995;456-459.
-
(1995)
Trends Biochem.
, vol.20
, pp. 456-459
-
-
Thomas, P.J.1
Qu, B.-H.2
Pedersen, L.P.3
-
72
-
-
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 B. W., Chen K. L., Wang S., Ben Othman K., Cullen B., Leach R. J., Hanemann C. O., De Jonghe P., Raeymaekers P., van Ommen G.-J. B., Martin J.-J., Muller H. W., Vance J. M., Fischbeck K. H., Van Broeckhoven C. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nature Genet. 1:1992;171-175.
-
(1992)
Nature 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
Muller, H.W.15
Vance, J.M.16
Fischbeck, K.H.17
Van Broeckhoven, C.18
-
73
-
-
0027031611
-
Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1a
-
Valentijn L. J., Baas F., Wolterman R. A., Hoogendijk J. E., Bosch N. H. A., Zorn I., Gabreels-Festen A. A. W. M., de Visser M., Bolhuis P. A. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1a. Nature Genet. 2:1992a;288-291.
-
(1992)
Nature Genet.
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Baas, F.2
Wolterman, R.A.3
Hoogendijk, J.E.4
Bosch, N.H.A.5
Zorn, I.6
Gabreels-Festen, A.A.W.M.7
De Visser, M.8
Bolhuis, P.A.9
-
74
-
-
0026879648
-
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
-
Valentijn L. J., Bolhuis P. A., Zorn I., Hoogendijk J. E., van den Bosch N., Hensels G. W., Stanton V. P., Housman D. E., Fischbeck K. H., Ross D. A., Nicholson G. A., Meershoek E. J., Dauwerse H. G., van Ommen G.-J. B., Bass F. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:1992b;166-170.
-
(1992)
Nature 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.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
Bass, F.15
-
75
-
-
0028981762
-
Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation
-
Valentijn L. J., Ouvrier R. A., van den Bosch N. H., Bolhuis P. A., Baas F., Nicholson G. A. Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation. Hum. Mutat. 5:1995;76-80.
-
(1995)
Hum. Mutat.
, vol.5
, pp. 76-80
-
-
Valentijn, L.J.1
Ouvrier, R.A.2
Van Den Bosch, N.H.3
Bolhuis, P.A.4
Baas, F.5
Nicholson, G.A.6
-
76
-
-
0029931697
-
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
-
Vallat J.-M., Sindou P., Preux J.-M., Tabaraud F., Milor A.-M., Couratier P., LeGuern E., Brice A. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39:1996;813-817.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 813-817
-
-
Vallat, J.-M.1
Sindou, P.2
Preux, J.-M.3
Tabaraud, F.4
Milor, A.-M.5
Couratier, P.6
Leguern, E.7
Brice, A.8
-
77
-
-
0028840915
-
Degradation of CFTR by the ubiquitin-proteasome pathway
-
Ward C. L., Omura S., Kopito R. R. Degradation of CFTR by the ubiquitin-proteasome pathway. Cell. 83:1995;121-127.
-
(1995)
Cell
, vol.83
, pp. 121-127
-
-
Ward, C.L.1
Omura, S.2
Kopito, R.R.3
-
78
-
-
0025773186
-
A myelin protein is encoded by the homologue of a growth arrest-specific gene
-
Welcher A. A., Suter U., De Leon M., Snipes G. J., Shooter E. M. A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl. Acad. Sci. USA. 88:1991;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
-
79
-
-
0024472693
-
Neurotoxicity of a fragment of the amyloid precursor associated with Alzheimer's disease
-
Yankner B. A., Dawes L. R., Fisher S., Villa-Komaroff L., Oster-Granite M. L., Neve R. L. Neurotoxicity of a fragment of the amyloid precursor associated with Alzheimer's disease. Science. 245:1989;417-420.
-
(1989)
Science
, vol.245
, pp. 417-420
-
-
Yankner, B.A.1
Dawes, L.R.2
Fisher, S.3
Villa-Komaroff, L.4
Oster-Granite, M.L.5
Neve, R.L.6
-
80
-
-
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., Müller H. W. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth. EMBO J. 14:1995;1122-1128.
-
(1995)
EMBO J.
, vol.14
, pp. 1122-1128
-
-
Zoidl, G.1
Blass-Kampmann, S.2
D'Urso, D.3
Schmalenbach, C.4
Müller, H.W.5
|