Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Deborah E. Schuback"'
Autor:
Gösta Holmgren, Lars Forsgren, Laurie J. Ozelius, M Kyllerman, Xandra O. Breakefield, Stanley Fahn, Deborah E. Schuback, Jan Wahlström, Patricia L. Kramer, Gunnar Sanner, Ulf Drugge
Publikováno v:
Clinical Genetics. 45:88-92
A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6-7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693f9d72b34737892944f89075e49a23
https://doi.org/10.1111/j.1399-0004.1994.tb04000.x
https://doi.org/10.1111/j.1399-0004.1994.tb04000.x
Autor:
Sam Wang, David T. Curiel, Victor Krasnykh, Deborah E. Schuback, Roberto Manservigi, Xandra O. Breakefield, Paola Grandi, Matthew A Spear
Publikováno v:
Molecular Therapy. 9:419-427
Expression of specific peptide epitopes on the surface of virions has significant potential for studying viral biology and designing vectors for targeted gene therapy. In this study, an HSV-1 amplicon plasmid expressing a modified glycoprotein C (gC)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47fa29d65770c7f24506d9f4f35fba13
https://doi.org/10.1016/j.ymthe.2003.12.010
https://doi.org/10.1016/j.ymthe.2003.12.010
Autor:
Laurie J. Ozelius, Xandra O. Breakefield, Sara M. Camp, Daniele Bergeron, Nicole A. Smith, Teri Naismith, Damien Slater, Vijaya Ramesh, Heather Boston, Jeremy D. Wilbur, Christoph Kamm, Deborah E. Schuback, Philipp Ziefer, Jeffrey W. Hewett, Phyllis I. Hanson
Publikováno v:
Journal of Neuroscience Research. 72:158-168
Most cases of early-onset torsion dystonia are caused by deletion of GAG in the coding region of the DYT1 gene encoding torsinA. This autosomal dominant neurologic disorder is characterized by abnormal movements, believed to originate from neuronal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e822f0f59be0d5dd29c94b6a67e37c9c
https://doi.org/10.1002/jnr.10567
https://doi.org/10.1002/jnr.10567
Autor:
Xandra O. Breakefield, Jennifer H. LaVail, Deborah E. Schuback, Thomas S. Reese, Elaine L. Bearer
Publikováno v:
Proceedings of the National Academy of Sciences. 97:8146-8150
Herpes simplex virus type I (HSV) typically enters peripheral nerve terminals and then travels back along the nerve to reach the neuronal cell body, where it replicates or enters latency. To monitor axoplasmic transport of HSV, we used the giant axon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c210d641fa984f3fce25b8fcb288db
https://doi.org/10.1073/pnas.97.14.8146
https://doi.org/10.1073/pnas.97.14.8146
Autor:
Chen-Yang Shen, Mei-Shang Ho, Benjamin D. Greenberg, Evan L. Mulligan, Deborah E. Schuback, Stephen P. Fink, Show Lin Yang, F. Berlin, Katherine B. Sims, Charles E. Schwartz, Elizabeth A. Tivol, Yun Pung Paul Hsu, Yi Chien Mau, Nan Hua Yang, Merlin G. Butler, Xandra O. Breakefield, Dennis L. Murphy, Shu Fen Chang
Publikováno v:
American Journal of Medical Genetics. 88:25-28
Brunner et al. [1993: Am J Hum Genet 52: 1032-1039; 1993: Science 262:578-580] described males with an MAO-A deficiency state resulting from a premature stop codon in the coding region of the MAOA gene. This deficiency state was associated with abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8d909038ada0090891074ef14c391f
https://doi.org/10.1002/(sici)1096-8628(19990205)88:1<25::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990205)88:1<25::aid-ajmg4>3.0.co
Autor:
Deborah E. Schuback, Xandra O. Breakefield, Yun-Pung P. Hsu, Christo Shalish, Elizabeth A. Tivol
Publikováno v:
American Journal of Medical Genetics. 67:92-97
The monoamine oxidases (MAO-A and MAO-B) are the enzymes primarily responsible for the degradation of amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. Wide variations in activity of these isozymes have been reported in contro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::441d3db80609756bbf7b0780d660e30c
https://doi.org/10.1002/(sici)1096-8628(19960216)67:1<92::aid-ajmg16>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960216)67:1<92::aid-ajmg16>3.0.co
Autor:
Werner Paulus, F H Barnett, Xandra O. Breakefield, Nikolai G. Rainov, John S. Yu, Peter Pechan, Miguel Sena-Esteves, E A Chiocca, Deborah E. Schuback, Christof M. Kramm
Publikováno v:
Brain Pathology. 5:345-381
Gene therapy has opened new doors for treatment of neoplastic diseases. This new approach seems very attractive, especially for glioblastomas, since treatment of these brain tumors has failed using conventional therapy regimens. Many different modes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bcadf56f3dbf4b198f7e8538cc05e51
https://doi.org/10.1111/j.1750-3639.1995.tb00615.x
https://doi.org/10.1111/j.1750-3639.1995.tb00615.x
Publikováno v:
Human Mutation. 5:285-292
We report our experience to date in mutation identification in the Norrie disease (ND) gene. We carried out mutational analysis in 26 kindreds in an attempt to identify regions presumed critical to protein function and potentially correlated with gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab29e91cafaf1d4a62fead3bc74c6c53
https://doi.org/10.1002/humu.1380050403
https://doi.org/10.1002/humu.1380050403
Autor:
G. Benson, Deborah E. Schuback, Christo Shalish, Ian W. Craig, Xandra O. Breakefield, Zheng-Yi Chen, R.V. Lebo, G. A. P. Bruns, Katherine B. Sims, M.S. Golbus
Publikováno v:
Human Molecular Genetics. 1:83-89
Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa25abb2ef64e1af5c38b76dff6e670e
https://doi.org/10.1093/hmg/1.2.83
https://doi.org/10.1093/hmg/1.2.83
Autor:
Robert E. Burke, Patricia L. Kramer, Mitchell F. Brin, Heidi Shale, Stanley Fahn, Susan B. Bressman, Deborah de Leon, Deborah E. Schuback, Neil Risch, Xandra O. Breakefield, Laurie J. Ozelius, James F. Gusella, David J. Kwiatkowski
Publikováno v:
Annals of Neurology. 27:114-120
Idiopathic torsion dystonia (ITD) is a neurological disorder characterized by sustained muscle contractions that appear as twisting movements of the limbs, trunk, and/or neck, which can progress to abnormal postures. Most familial forms of ITD follow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cd6f24b839c3be736d06f2b6553db5
https://doi.org/10.1002/ana.410270203
https://doi.org/10.1002/ana.410270203