Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Sarah J Augood"'
Autor:
Kevin Rostasy, Sarah J Augood, Jeffrey W Hewett, Joanne Chung-on Leung, Hikaru Sasaki, Laurie J Ozelius, Vijaya Ramesh, David G Standaert, Xandra O Breakefield, John C Hedreen
Publikováno v:
Neurobiology of Disease, Vol 12, Iss 1, Pp 11-24 (2003)
Familial, early onset, generalized torsion dystonia is the most common and severe primary dystonia. Most cases are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A (DYT1) gene, which is widely expressed in human brain and encodes the
Externí odkaz:
https://doaj.org/article/7f1119edb61b461fa142029ae67065ee
Autor:
Richard L.M. Faull, Mauro Delorenzi, Linda Anne Elliston, Doris C. V. Thu, Darlene R. Goldstein, Francois Collin, Andrew D. Strand, Catherine Hartog, Aaron K. Aragaki, Charles Kooperberg, Ruth Luthi-Carter, Sarah J. Augood, James M. Olson, Lesley Jones, Alexandre Kuhn, Peter Holmans, Anne B. Young, Nancy S. Wexler, Zane R. Hollingsworth, Angela Hodges, Beth J. Synek, Gareth Hughes, Thierry Sengstag
Huntington's disease (HD) pathology is well understood at a histological level but a comprehensive molecular analysis of the effect of the disease in the human brain has not previously been available. To elucidate the molecular phenotype of HD on a g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86bdbf86a814ac64fbe03bf038300822
http://doc.rero.ch/record/301565/files/ddl013.pdf
http://doc.rero.ch/record/301565/files/ddl013.pdf
Autor:
Norman Arnheim, Song-Ro Yoon, Christine E. Keller-McGandy, Peggy F. Shelbourne, Nicola Veitch, Jean Paul G. Vonsattel, Louis Dubeau, Sarah J. Augood, Nancy S. Wexler, Wenya Linda Bi
Publikováno v:
Human Molecular Genetics. 16:1133-1142
Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a255460799c056c46cd167982b60ff0
https://doi.org/10.1093/hmg/ddm054
https://doi.org/10.1093/hmg/ddm054
Publikováno v:
Journal of the Neurological Sciences. 218:39-45
We determined the levels and tissue localization of matrix metalloproteinases (MMPs) as well as their endogenous tissue inhibitors (TIMPs) in postmortem brain tissue from 13 patients with progressive supranuclear palsy (PSP) and 8 age-matched control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db09d0dcc557b959e44dc1afe04d05b7
https://doi.org/10.1016/j.jns.2003.10.015
https://doi.org/10.1016/j.jns.2003.10.015
Autor:
J. Adamson, M F Beal, Deborah M. Martin, Gary E. Gibson, Jean Paul Vonsattel, Susan E. Browne, David G. Standaert, Mike Hutton, Sarah J. Augood, Larry Park, David S. Albers
Publikováno v:
Journal of Neurochemistry. 74:878-881
Recent data from our laboratory have shown a regionally specific increase in lipid peroxidation in postmortem progressive supranuclear palsy (PSP) brain. To extend this finding, we measured activities of mitochondrial enzymes as well as tissue malond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec406a5f6325e68b54d24c2c1f4159e9
https://doi.org/10.1046/j.1471-4159.2000.740878.x
https://doi.org/10.1046/j.1471-4159.2000.740878.x
Autor:
Piers C. Emson, Sarah J. Augood, Margaret Ryan, David G. Standaert, Sabine Bahn, Michael Starkey
Publikováno v:
Journal of Chemical Neuroanatomy. 22:79-94
Global expression profiling techniques such as microarray technology promise to revolutionize biology. Soon it will be possible to investigate alterations at the transcript level of the entire human genome. There is great hope that these techniques w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40e1ba4eda981f52eead25b7939b8f62
https://doi.org/10.1016/s0891-0618(01)00099-0
https://doi.org/10.1016/s0891-0618(01)00099-0
Publikováno v:
The Journal of Comparative Neurology. 421:247-255
The potential role for dopamine in the subthalamic nucleus was investigated in human postmortem tissue sections by examining; (1) immunostaining for tyrosine hydroxylase, the rate-limiting enzyme in catecholamine synthesis; (2) binding of [(3)H]-SCH2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::127175cc7648144388f2bcade4696b9c
https://doi.org/10.1002/(sici)1096-9861(20000529)421:2<247::aid-cne9>3.0.co
https://doi.org/10.1002/(sici)1096-9861(20000529)421:2<247::aid-cne9>3.0.co
Publikováno v:
Annals of Neurology. 47:201-210
Mutations in the alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) genes have been linked to some cases of familial Parkinson's disease. To provide insight into how these genes may relate to each other and contribute to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dacce619e45081862bbb27a11fe6c7c
https://doi.org/10.1002/1531-8249(200002)47:2<201::aid-ana10>3.0.co
https://doi.org/10.1002/1531-8249(200002)47:2<201::aid-ana10>3.0.co
Autor:
Deborah M. Martin, Xandra O. Breakefield, David G. Standaert, John B. Penney, Laurie J. Ozelius, Sarah J. Augood
Publikováno v:
Annals of Neurology. 46:761-769
To gain insight into the neural pathways involved in the pathogenesis of DYT1 dystonia, we have mapped the cellular expression of the mRNA encoding torsinA and the closely related family member, torsinB, in normal adult human brain. Here, we report a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5b527062c9a392d64346e7034445932
https://doi.org/10.1002/1531-8249(199911)46:5<761::aid-ana12>3.0.co
https://doi.org/10.1002/1531-8249(199911)46:5<761::aid-ana12>3.0.co
Publikováno v:
Neuroscience. 88:521-534
The distribution of messenger RNA encoding the human GAT-1 (a high-affinity GABA transporter) was investigated in the subthalamic nucleus of 10 neurologically normal human post mortem cases. Further, the distribution of messenger RNA and protein enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e72c3db95671ce4e8a4e289309d6b7
https://doi.org/10.1016/s0306-4522(98)00226-7
https://doi.org/10.1016/s0306-4522(98)00226-7