Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Alison Boyd"'
Autor:
Pascual Sanchez-Juan, Matthew T Bishop, Gabor G Kovacs, Miguel Calero, Yurii S Aulchenko, Anna Ladogana, Alison Boyd, Victoria Lewis, Claudia Ponto, Olga Calero, Anna Poleggi, Ángel Carracedo, Sven J van der Lee, Thomas Ströbel, Fernando Rivadeneira, Albert Hofman, Stéphane Haïk, Onofre Combarros, José Berciano, Andre G Uitterlinden, Steven J Collins, Herbert Budka, Jean-Philippe Brandel, Jean Louis Laplanche, Maurizio Pocchiari, Inga Zerr, Richard S G Knight, Robert G Will, Cornelia M van Duijn
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123654 (2014)
We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD an
Externí odkaz:
https://doaj.org/article/cce2b1a8c1a44c87b1539cdd95ccb3a7
Autor:
Maren Breithaupt, Inga Zerr, Annick Alpérovitch, Robert G. Will, Steven J. Collins, Gerard H. Jansen, Rachel Howley, Marion Simpson, Michael Farrell, Michael Coulthard, Genevieve M Klug, Cornelia M. van Duijn, Handan Wand, Alison Boyd, Colin L. Masters, Jean-Philippe Brandel, Matthew Law, Gabor G. Kovacs, Jan Mackenzie, Herbert Budka, Radoslav Matěj, Carla A. Ibrahim-Verbaas
Publikováno v:
Journal of Neurology Neurosurgery and Psychiatry, 84(12), 1372-1377. BMJ Publishing Group
Background Prospective national screening and surveillance programmes serve a range of public health functions. Objectively determining their adequacy and impact on disease may be problematic for rare disorders. We undertook to assess whether objecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4776261b23cc4c977c74028c3ae2c71
https://doi.org/10.1136/jnnp-2012-304820
https://doi.org/10.1136/jnnp-2012-304820
Autor:
Steven J. Collins, Genevieve M Klug, Andrew F. Hill, Jeremy M. Welton, Alison Boyd, Victoria A. Lawson, Helen M. J. Klemm, Colin L. Masters
Publikováno v:
Journal of Biological Chemistry. 287:36465-36472
Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans. The disease encompasses a spectrum of clinical phenotypes that have been correlated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77140d4991aace02b353ef534aed608
https://doi.org/10.1074/jbc.m112.368803
https://doi.org/10.1074/jbc.m112.368803
Autor:
Steven J. Collins, Lawrence B. Schonberger, Alison Boyd, Jean-Philippe Brandel, Amelia McGlade, Colin L. Masters, Genevieve M Klug
Publikováno v:
Medical Journal of Australia. 193:366-369
From 1967, the Australian Human Pituitary Hormone Program offered treatment for short stature and infertility using human cadaver-acquired pituitary hormones (human growth hormone [hGH] and human pituitary gonadotrophin [hPG]). The program was suspen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2809569d54db19b7569ba25877b637
https://doi.org/10.5694/j.1326-5377.2010.tb03951.x
https://doi.org/10.5694/j.1326-5377.2010.tb03951.x
Autor:
Sabina Capellari, André G. Uitterlinden, M. Arfan Ikram, Anna Poleggi, Wei Chen, Alison Boyd, Konrad J. Karczewski, Steven A. McCarroll, Sven J. van der Lee, Steven J. Collins, Sabina Eigenbrod, Jamie L. Marshall, Annemieke J. M. Rozemuller, Karen L. Mohlke, Pamela Sklar, Mark J. Daly, Richard Knight, Miguel Calero, Markku Laakso, Robert Kraaij, Sonia M Vallabh, Cornelia M. van Duijn, Tetsuyuki Kitamoto, Jean Philippe Brandel, Daniel G. MacArthur, Stéphane Haïk, Pierluigi Gambetti, Kaitlin E. Samocha, Monkol Lek, Casper Jansen, Kimberly Chambert, Shaun Purcell, Anna K. Kähler, Michael Boehnke, Piero Parchi, Karol Estrada, Claudia Ponto, Linda P.C. Yu, Nobuo Sanjo, Jeroen van Rooij, Anna Ladogana, Hidehiro Mizusawa, Joyce Y. Tung, Yvonne Cohen, Shulin Na Zhang, Janis Blevins, Christina M. Hultman, Masahito Yamada, Elodie Bouaziz-Amar, Anne H. O’Donnell-Luria, Yosikazu Nakamura, Cory Y. McLean, Inga Zerr, Armin Giese, Albert Hofman, Patrick F. Sullivan, Jean-Louis Laplanche, Eric Vallabh Minikel, Jesús de Pedro-Cuesta, Robert G. Will, J. Fah Sathirapongsasuti, Theo F. J. Kraus, Tsuyoshi Hamaguchi
Publikováno v:
Science Translational Medicine, 8(322):322ra9. American Association for the Advancement of Science
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169
More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345ca3279c0849399b5f2fe8df6626b2
http://hdl.handle.net/10044/1/56240
http://hdl.handle.net/10044/1/56240
Autor:
Alison Boyd, Claire Stevens
Publikováno v:
BDJ Team. 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::411aa653bc1376731a7ab71b17f1f102
https://doi.org/10.1038/bdjteam.2015.107
https://doi.org/10.1038/bdjteam.2015.107
Autor:
Genevieve M, Klug, Alison, Boyd, Shannon, Sarros, Christiane, Stehmann, Marion, Simpson, Catriona A, McLean, Collin L, Masters, Stephen J, Collins
Publikováno v:
Communicable diseases intelligence quarterly report. 38(4)
Nation-wide surveillance of transmissible spongiform encephalopathies including Creutzfeldt-Jakob disease, is performed by the Australian National Creutzfeldt-Jakob Disease Registry, based at the University of Melbourne. Surveillance has been underta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ba8282227dc4eeb46189261cd7f7304a
https://pubmed.ncbi.nlm.nih.gov/25631598
https://pubmed.ncbi.nlm.nih.gov/25631598
Autor:
Jean-Louis Laplanche, Pascual Sánchez-Juan, Olga Calero, Victoria Lewis, Cornelia M. van Duijn, Fernando Rivadeneira, Stéphane Haïk, Onofre Combarros, Anna Poleggi, José Berciano, Jean-Philippe Brandel, Claudia Ponto, André G. Uitterlinden, Robert G. Will, Angel Carracedo, Albert Hofman, Inga Zerr, Thomas Ströbel, Matthew Bishop, Miguel Calero, Steven J. Collins, Herbert Budka, Maurizio Pocchiari, Gabor G. Kovacs, Anna Ladogana, Yurii S. Aulchenko, Alison Boyd, Sven J. van der Lee, Richard Knight
Publikováno v:
PLoS One (print), 10(4). Public Library of Science
PLOS ONE
PLOS ONE 10(4), e0123654 (2015). doi:10.1371/journal.pone.0123654
Sanchez-Juan, P, Bishop, M, Kovacs, G, Calero, M, Aulchenko, Y, Ladogana, A, Boyd, A, Lewis, V, Ponto, C, Calero, O, Poleggi, A, Carracedo, A, van der Lee, S, Strobel, T, Rivadeneira, F, Hofman, A, Haik, S, Combarros, O, Berciano, J, Uitterlinden, A, Collins, S, Budka, H, Brandel, J-P, Laplanche, J L, Pocchiari, M, Zerr, I, Knight, R, Will, B & van Duijn, C 2015, ' A genome wide association study links glutamate receptor pathway to Sporadic Creutzfeldt-Jakob disease risk. ', PLoS ONE . https://doi.org/10.1371/journal.pone.0123654
PLoS ONE
PLoS ONE, Public Library of Science, 2015, 10 (4), pp.e0123654. ⟨10.1371/journal.pone.0123654⟩
PLoS ONE, Public Library of Science, 2015, 10 (4), pp.e0123654. 〈10.1371/journal.pone.0123654〉
PLoS ONE, Vol 10, Iss 4, p e0123654 (2014)
PLoS ONE, 2015, 10 (4), pp.e0123654. ⟨10.1371/journal.pone.0123654⟩
PLOS ONE
PLOS ONE 10(4), e0123654 (2015). doi:10.1371/journal.pone.0123654
Sanchez-Juan, P, Bishop, M, Kovacs, G, Calero, M, Aulchenko, Y, Ladogana, A, Boyd, A, Lewis, V, Ponto, C, Calero, O, Poleggi, A, Carracedo, A, van der Lee, S, Strobel, T, Rivadeneira, F, Hofman, A, Haik, S, Combarros, O, Berciano, J, Uitterlinden, A, Collins, S, Budka, H, Brandel, J-P, Laplanche, J L, Pocchiari, M, Zerr, I, Knight, R, Will, B & van Duijn, C 2015, ' A genome wide association study links glutamate receptor pathway to Sporadic Creutzfeldt-Jakob disease risk. ', PLoS ONE . https://doi.org/10.1371/journal.pone.0123654
PLoS ONE
PLoS ONE, Public Library of Science, 2015, 10 (4), pp.e0123654. ⟨10.1371/journal.pone.0123654⟩
PLoS ONE, Public Library of Science, 2015, 10 (4), pp.e0123654. 〈10.1371/journal.pone.0123654〉
PLoS ONE, Vol 10, Iss 4, p e0123654 (2014)
PLoS ONE, 2015, 10 (4), pp.e0123654. ⟨10.1371/journal.pone.0123654⟩
We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ccd86d122c163b4306bd3d7de690abc
https://pure.eur.nl/en/publications/7d446203-58f5-4c0d-b282-247157f80325
https://pure.eur.nl/en/publications/7d446203-58f5-4c0d-b282-247157f80325
Autor:
Alison Boyd, Julian Savulescu, C.L. Masters, Steven J. Collins, Rony E. Duncan, Martin B. Delatycki
Publikováno v:
Journal of Medical Ethics. 31:625-630
Variant Creutzfeldt-Jakob disease (vCJD) is a fatal, transmissible, neurodegenerative disorder for which there is currently no effective treatment. vCJD arose from the zoonotic spread of bovine spongiform encephalopathy. There is now compelling evide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01680177f45272fdcef2e56ba48ea632
https://doi.org/10.1136/jme.2005.011965
https://doi.org/10.1136/jme.2005.011965