Zobrazeno 1 - 10
of 39
pro vyhledávání: '"J. R. Vaughan"'
Autor:
S. L.L. Barker, K. A. Hickey, J. S. Cline, G. M. Dipple, M. R. Kilburn, J. R. Vaughan, A. A. Longo
Publikováno v:
Economic Geology. 104:897-904
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29cb4dd46e1f9950e3c02293a8735791
https://doi.org/10.2113/gsecongeo.104.7.897
https://doi.org/10.2113/gsecongeo.104.7.897
Autor:
L. H. Eunson, Andrew B. Singleton, Kailash P. Bhatia, Nicola Pavese, William P. Gilks, John Lynch, Janice L. Holton, David J. Brooks, Mary B. Davis, Paola Piccini, Shushant Jain, Tamas Revesz, J. R. Vaughan, Patrick M. Abou-Sleiman, Juliet Gayton, Regina Katzenschlager, Graham Lennox, Nicholas W. Wood, Daniel G. Healy, Niall Quinn, David Nicholl, Vaneesha Gibbons, Andrew J. Lees, Sonia Gandhi, Naheed L. Khan, Mary G. Sweeney, M Ganguly
Publikováno v:
Brain. 128:2786-2796
We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's disease where affected subjects share a Y1699C missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::439d82b6de9b3ef4bebda62a37717d7d
https://doi.org/10.1093/brain/awh667
https://doi.org/10.1093/brain/awh667
Autor:
Alexis Brice, Nicholas W. Wood, Anne Hofer, Vincenzo Bonifati, J. Prestel, Giuseppe Meco, Giampiero Volpe, Petra Leitner, Alexander Zimprich, Bertram Müller-Myhsok, Manu Sharma, Alexandra Durr, Hasmet Hanagasi, Friedrich Asmus, Matthew J. Farrer, G. De Michele, J. R. Vaughan, T. Gasser
Publikováno v:
European Journal of Human Genetics, 13(2), 193-197. Nature Publishing Group
Parkinson's disease (PD) is a genetically heterogeneous disease. Recently, significant linkage has been reported to a 39.5 cM region on the long arm of chromosome 2 (2q36-37; PARK11) in North American Parkinson families under an autosomal dominant mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31ef59c79f564f02cd9ced65435ed1a
https://doi.org/10.1038/sj.ejhg.5201317
https://doi.org/10.1038/sj.ejhg.5201317
Publikováno v:
Annals of Human Genetics. 65:111-126
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f1bb2f55191efde5ac4269226b836e8
https://doi.org/10.1046/j.1469-1809.2001.6520111.x
https://doi.org/10.1046/j.1469-1809.2001.6520111.x
Autor:
Nicholas W. Wood, Susan E. Daniel, Peter H. Dixon, Christopher Morris, Niall Quinn, Andrew J. Lees, Rohan de Silva, Naheed L. Khan, Adrian Mander, Elizabeth Graham, J. R. Vaughan, David Clayton
Publikováno v:
Annals of Neurology. 49:665-668
A recent study showed significant association of sporadic Parkinson's disease with a polymorphism within the α-synuclein gene and closely linked DNA markers on chromosome 4q and the APOE e4 allele. A combined α-synuclein/APOE-e4 genotype increased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62ceacbcc5b49fa1922bdbf37f35d8f0
https://doi.org/10.1002/ana.1027
https://doi.org/10.1002/ana.1027
Publikováno v:
Movement Disorders. 15:30-35
In a preliminary report we demonstrated an association between the slow acetylator genotype of N-acetyltransferase 2 (NAT2) and familial cases of Parkinson's disease (FPD). Using a considerably more precise NAT2 typing method, which detects all mutan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05c3d8601313e41e91bb9248307e08dc
https://doi.org/10.1002/1531-8257(200001)15:1<30::aid-mds1007>3.0.co
https://doi.org/10.1002/1531-8257(200001)15:1<30::aid-mds1007>3.0.co
Autor:
Giuseppe De Michele, J. R. Vaughan, Yves Agid, Vincenzo Bonifati, Monique M.B. Breteler, William G. Johnson, Oliver Bandmann, Johann Tassin, Alexis Brice, Gianpiero Volpe, Thomas Gasser, Benjamin Bereznai, Edito Fabrizio, Giuseppe Meco, Alexandra Durr, Nicholas W. Wood, C. David Marsden, Lawrence I. Golbe
Publikováno v:
Annals of Neurology. 44:270-273
We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792d3444e00a0993f8f8b43b004cf744
https://doi.org/10.1002/ana.410440221
https://doi.org/10.1002/ana.410440221
Publikováno v:
Toxicological Sciences. 43:129-138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::559b867c4134dc021e7ce78a6eb7b020
https://doi.org/10.1093/toxsci/43.2.129
https://doi.org/10.1093/toxsci/43.2.129
Publikováno v:
Microprocessors and Microsystems. 17:59-66
Real-time access to a large terrain database may become a complex problem when the entire system is resident in a vehicle undergoing rapid changes of motion. Due to space and cost limitations of the application, a system has been developed to work on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4de2091bfb375f73a036a410d67bae6a
https://doi.org/10.1016/0141-9331(93)90072-f
https://doi.org/10.1016/0141-9331(93)90072-f
Autor:
N, Abbas, C B, Lücking, S, Ricard, A, Dürr, V, Bonifati, G, De Michele, S, Bouley, J R, Vaughan, T, Gasser, R, Marconi, E, Broussolle, C, Brefel-Courbon, B S, Harhangi, B A, Oostra, E, Fabrizio, G A, Böhme, L, Pradier, N W, Wood, A, Filla, G, Meco, P, Denefle, Y, Agid, A, Brice
Publikováno v:
ResearcherID
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::157dcc8ddb6df2300cf591ce9af63e60
http://hdl.handle.net/11588/483633
http://hdl.handle.net/11588/483633
