Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Dana C. Hilt"'
Autor:
Jonas M. den Heijer, Arnoud Schmitz, Peter Lansbury, Valerie C. Cullen, Dana C. Hilt, Vincenzo Bonifati, Geert Jan Groeneveld
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, po
Externí odkaz:
https://doaj.org/article/db9c836049f440f78b8e0d48151c2188
Autor:
Jonas M. den Heijer, Annelieke C. Kruithof, Matthijs Moerland, Mike Walker, Lindsay Dudgeon, Craig Justman, Imelda Solomini, Leslie Splitalny, Nancy Leymarie, Kshitij Khatri, Valerie C. Cullen, Dana C. Hilt, Geert Jan Groeneveld, Peter Lansbury
Publikováno v:
Movement Disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::203c684b39923c28a5545615ef062b59
https://doi.org/10.1002/mds.29346
https://doi.org/10.1002/mds.29346
Autor:
Jonas M. den Heijer, Valerie C. Cullen, Diana R. Pereira, Yalcin Yavuz, Marieke L. de Kam, Hendrika W. Grievink, Matthijs Moerland, Nancy Leymarie, Kshitij Khatri, Imelda Sollomoni, Leslie Spitalny, Lindsay Dungeon, Dana C. Hilt, Craig Justman, Peter Lansbury, Geert Jan Groeneveld
Publikováno v:
Movement Disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75f5323ddcbc60cda9185c3e937991c7
https://doi.org/10.1002/mds.29360
https://doi.org/10.1002/mds.29360
Autor:
Jonas M. den Heijer, Hendrika W. Grievink, Eva Thijssen, Guido van Amerongen, Marieke L. de Kam, Dana C. Hilt, Annelieke C. Kruithof, Matthijs Moerland, Geert Jan Groeneveld, Renato T. Skerlj, Valerie Christina Cullen, Mike Walker, Kees Been, Peter T. Lansbury, Craig J. Justman, Lindsay Dudgeon
Publikováno v:
British Journal of Clinical Pharmacology, 87(9), 3561-3573. WILEY
British Journal of Clinical Pharmacology
British Journal of Clinical Pharmacology
Aims A mutation in the GBA1 gene is the most common genetic risk factor for developing Parkinson's disease. GBA1 encodes the lysosomal enzyme glucosylceramidase beta (glucocerebrosidase, GCase) and mutations decrease enzyme activity. LTI-291 is an al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e6d582dc76ec1718a1a83f9b5bdc35
http://hdl.handle.net/1887/3278255
http://hdl.handle.net/1887/3278255
Autor:
Peter T. Lansbury, Valerie Christina Cullen, Geert Jan Groeneveld, Vincenzo Bonifati, Arnoud Schmitz, Jonas M. den Heijer, Dana C. Hilt
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, 11(1):161. Nature Publishing Group
Scientific Reports, 11(1). NATURE RESEARCH
Scientific Reports
Scientific Reports, 11(1):161. Nature Publishing Group
Scientific Reports, 11(1). NATURE RESEARCH
Scientific Reports
A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c760291513383969ffac918eeebab07
https://hdl.handle.net/1887/3278256
https://hdl.handle.net/1887/3278256
Publikováno v:
Developmental Biology. 457:163-164
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d60c6285cd53c2acf13071468af26f0
https://doi.org/10.1016/j.ydbio.2019.11.002
https://doi.org/10.1016/j.ydbio.2019.11.002
Autor:
Henry Brem, Clifford J Belden, Martin G. Pomper, Dima A. Hammoud, Gerald J. Dal Pan, Dana C Hilt, Edward H. Herskovits, Amy C Ho
Publikováno v:
American Journal of Roentgenology. 180:1469-1475
The objective of our study was to describe the CT and MR imaging appearances of the surgical bed in the brains of patients receiving biodegradable polymers impregnated with N, N'1, 3-Bis-(2-chloroethyl)-N-nitrosourea (BCNU) for recurrent glioma and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e54765afab2713b820159d8ea698f958
https://doi.org/10.2214/ajr.180.5.1801469
https://doi.org/10.2214/ajr.180.5.1801469
Autor:
Michael R. Crowley, Suzanne Buck, Paul Yarowsky, Dana C. Hilt, Roger H. Reeves, John D. Gearhart, Jibin Yao, Xiaofeng Zhang
Publikováno v:
Proceedings of the National Academy of Sciences. 91:5359-5363
S100 beta is a calcium-binding protein that is expressed at high levels in brain primarily by astrocytes. Addition of the disulfide-bonded dimeric form of S100 beta to primary neuronal and glial cultures and established cell lines induces axonal exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27d017343333b7db171d163cd6647beb
https://doi.org/10.1073/pnas.91.12.5359
https://doi.org/10.1073/pnas.91.12.5359
Autor:
Dana C. Hilt, E. Edward Baetge, Yi-Ping Li, Craig Sampson, Ann Fisher, Chuang Fong Kong, Gabriele Mues, Louis B. Hersh
Publikováno v:
Journal of Neurochemistry. 61:306-314
Genomic clones of human and porcine choline acetyltransferase were obtained by screening genomic libraries with synthetic oligonucleotides. The human and porcine genes exhibit significant conservation of both their intron/exon structure and the nucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a94963c1ee8ce3efee0597290138165
https://doi.org/10.1111/j.1471-4159.1993.tb03569.x
https://doi.org/10.1111/j.1471-4159.1993.tb03569.x
Publikováno v:
Molecular and Cellular Neuroscience. 2:172-178
The mammalian homeobox genes are a family of genes that are expressed at high levels in the nervous system and encode sequence-specific DNA-binding proteins and transcriptional factors. To understand the expression and function of the homeobox genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6f16a14313c0fe6d42a801c353d007e
https://doi.org/10.1016/1044-7431(91)90010-l
https://doi.org/10.1016/1044-7431(91)90010-l