Zobrazeno 1 - 10
of 37
pro vyhledávání: '"G J, Snipes"'
Autor:
François Dubeau, A. Bastos, F. Andermann, Hiroshi Otsubo, André Olivier, André Palmini, Marilisa M. Guerreiro, Paul A. Hwang, H. J. Hoffman, G. J. Snipes, E. Andermann, Theodore Rasmussen
Publikováno v:
Neurology. 51:1263-1269
Background: Seizures in patients with tuberous sclerosis complex (TSC) are often intractable to antiepileptic medications and searching investigation may provide evidence that surgical treatment can be considered. Objective: To review the results of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddb60977b560269598243d5905077b3
https://doi.org/10.1212/wnl.51.5.1263
https://doi.org/10.1212/wnl.51.5.1263
Autor:
Laliberté J, Roland Naef, Eric M. Shooter, Sangeeta Pareek, Wayne S. Sossin, Lucia Notterpek, Richard A. Murphy, Iacampo S, G J Snipes, Ueli Suter
Publikováno v:
The Journal of Neuroscience. 17:7754-7762
Schwann cells express low levels of myelin proteins in the absence of neurons. When Schwann cells and neurons are cultured together the production of myelin proteins is elevated, and myelin is formed. For peripheral myelin protein 22 (PMP22), the exa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e8ff820c6c948f77ebc581480145c7
https://doi.org/10.1523/jneurosci.17-20-07754.1997
https://doi.org/10.1523/jneurosci.17-20-07754.1997
Publikováno v:
The Journal of Neuroscience. 17:4190-4200
A nonconservative leucine to proline mutation in peripheral myelin protein 22 (PMP22) causes the Trembler-J (TrJ) neuropathy in mice and humans. The expression levels and localization of the PMP22 protein in theTrJmouse have not been previously deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1229e41ba282c2180682d5454d3977c
https://doi.org/10.1523/jneurosci.17-11-04190.1997
https://doi.org/10.1523/jneurosci.17-11-04190.1997
Autor:
C Haney, Eric M. Shooter, G J Snipes, Carlos A. Garcia, Bruce D. Trapp, John W. Griffin, Ueli Suter
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 55:290-299
Peripheral Myelin Protein-22 (PMP22) is a membrane glycoprotein which represents up to 5% of total protein in myelin of peripheral nerves. Mutations affecting the PMP22 gene have been linked to the inherited peripheral neuropathies Charcot-Marie-Toot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53eb9d88ffc27e5a69522d3cf2fadc4c
https://doi.org/10.1097/00005072-199603000-00004
https://doi.org/10.1097/00005072-199603000-00004
Autor:
Ueli Suter, G J Snipes
Publikováno v:
Annual Review of Neuroscience. 18:45-75
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::108cce7b66679c632987b43841a02058
https://doi.org/10.1146/annurev.ne.18.030195.000401
https://doi.org/10.1146/annurev.ne.18.030195.000401
Autor:
A. A. Welcher, G. J. Snipes, J. R. Lupski, Sangeeta Pareek, R. A. Murphy, R. Schoener-Scott, Ueli Suter, E. M. Shooter, Pragna Patel
Publikováno v:
Journal of Biological Chemistry. 269:25795-25808
Mutations affecting the peripheral myelin protein-22 (PMP22) gene have been shown to be associated with inherited peripheral neuropathies. To provide the molecular basis for the analysis of such mutations, we have cloned and characterized the human P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c45521d47bbc970cc7179311ef39db2
https://doi.org/10.1016/s0021-9258(18)47318-8
https://doi.org/10.1016/s0021-9258(18)47318-8
Autor:
Eric M. Shooter, D. A. Kulpa, James R. Lupski, A. A. Welcher, Ueli Suter, G. J. Snipes, Benjamin B. Roa, Pragna Patel, Carol Wise, C. A. Garcia, J. Mueller
Publikováno v:
New England Journal of Medicine. 329:96-101
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e5179ad319e681fd37f404fa8f4199
https://doi.org/10.1056/nejm199307083290205
https://doi.org/10.1056/nejm199307083290205
Publikováno v:
Journal of Biological Chemistry. 268:10372-10379
Peripheral myelin protein, 22 kDa (PMP22), is a myelin molecule associated with Schwann cells in peripheral nerves (Snipes, G. J., Suter, U., Welcher, A. A., and Shooter, E. M. (1992) J. Cell Biol. 117, 225-238). Mutations affecting the PMP22 gene ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f10f888479466fc764c6e2b0e392d9ae
https://doi.org/10.1016/s0021-9258(18)82211-6
https://doi.org/10.1016/s0021-9258(18)82211-6
Publikováno v:
The Journal of Cell Biology
We have recently described a novel cDNA, SR13 (Welcher, A. A., U. Suter, M. De Leon, G. J. Snipes, and E. M. Shooter. 1991. Proc. Natl. Acad. Sci. USA. 88:7195-7199), that is repressed after sciatic nerve crush injury and shows homology to both the g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be90c17dd04a106699de2a11e815c7a
https://doi.org/10.1083/jcb.117.1.225
https://doi.org/10.1083/jcb.117.1.225
Autor:
Ueli Suter, Richard L. Sidman, G J Snipes, Uta Francke, Susan Billings-Gagliardi, Tayfun Ozcelik, Bela Kosaras, A A Welcher, Eric M. Shooter
Publikováno v:
Nature. 356:241-244
The autosomal dominant trembler mutation (Tr), maps to mouse chromosome 11 (ref. 2) and manifests as a Schwann-cell defect characterized by severe hypomyelination and continuing Schwann-cell proliferation throughout life. Affected animals move clumsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::607325d22caa26efe501f1d1369ffd96
https://doi.org/10.1038/356241a0
https://doi.org/10.1038/356241a0