Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Natalie, S Ryan"'
Autor:
Dieter Petit, Sara Gutiérrez Fernández, Katarzyna Marta Zoltowska, Thomas Enzlein, Natalie S. Ryan, Antoinette O’Connor, Maria Szaruga, Elizabeth Hill, Rik Vandenberghe, Nick C. Fox, Lucía Chávez-Gutiérrez
Familial Alzheimer’s disease (FAD), caused by mutations in Presenilin (PSEN1/2) and Amyloid Precursor Protein (APP) genes, is associated with an early age at onset (AAO) of symptoms. AAO is relatively consistent within families and between carriers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925b535ee20c06e50b41684e2bece363
https://lirias.kuleuven.be/handle/20.500.12942/693213
https://lirias.kuleuven.be/handle/20.500.12942/693213
Autor:
Manuel Hitzenberger, Francois Paul Bischoff, Marc Mercken, Sam Lismont, Katarzyna Marta Zoltowska, Natalie S. Ryan, Martin Zacharias, Dieter Petit, Lucía Chávez-Gutiérrez
Publikováno v:
The EMBO Journal
γ-Secretase complexes (GSECs) are multimeric membrane proteases involved in a variety of physiological processes and linked to Alzheimer's disease (AD). Presenilin (PSEN, catalytic subunit), Nicastrin (NCT), Presenilin Enhancer 2 (PEN-2), and Anteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60075822ea25a5936594d3aafd319d16
https://lirias.kuleuven.be/handle/123456789/654197
https://lirias.kuleuven.be/handle/123456789/654197
Autor:
Ross W. Paterson, John Hardy, Jamie Toombs, Nick C. Fox, Henrik Zetterberg, Nanet Willumsen, Charles Arber, Selina Wray, Jonathan M. Schott, Eleni Gkanatsiou, Erik Portelius, Kaj Blennow, Natalie S. Ryan, Tammaryn Lashley, Amanda Heslegrave, Christopher Lovejoy
Publikováno v:
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry
Familial Alzheimer’s disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ-secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides. Using five control induced pluripotent stem cell (iPSC) lines
Autor:
Bart De Strooper, Diego Sepulveda-Falla, Shigeo Murayama, Manasi Benurwar, Sarah Veugelen, Nick C. Fox, Sam Lismont, Lucía Chávez-Gutiérrez, Alberto Lleó, Harrie J.M. Gijsen, Natalie S. Ryan, Tammaryn Lashley, Maria Szaruga
Publikováno v:
The Journal of Experimental Medicine
Mutations in the catalytic subunit of the γ-secretase complex, Presenilin, cause familial Alzheimer’s disease. Analysis of patients’ brains shows that these mutations do not result in loss of enzymatic function but in qualitative changes in Aβ
Autor:
Rita Guerreiro, Janice L. Holton, Jon Beck, Bart De Strooper, Simon Mead, Janna Kenny, Yuying Liang, Lucía Chávez-Gutiérrez, Tammaryn Lashley, Jennifer M. Nicholas, Martin N. Rossor, Nick C. Fox, Philip S.J. Weston, Gary Adamson, Tamas Revesz, Natalie S. Ryan
Publikováno v:
The Lancet. Neurology. 15(13)
BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symp
Autor:
Philip S J, Weston, Jennifer M, Nicholas, Manja, Lehmann, Natalie S, Ryan, Yuying, Liang, Kirsty, Macpherson, Marc, Modat, Martin N, Rossor, Jonathan M, Schott, Sebastien, Ourselin, Nick C, Fox
Publikováno v:
Neurology
Objective: To identify a cortical signature pattern of cortical thinning in familial Alzheimer disease (FAD) and assess its utility in detecting and tracking presymptomatic neurodegeneration. Methods: We recruited 43 FAD mutation carriers—36 PSEN1,
Autor:
Tammaryn Lashley, Jon Beck, Bart De Strooper, Phoebe Walsh, Huw R. Morris, Lois G. Kim, Martin N. Rossor, Jennifer M. Nicholas, Geert Jan Biessels, Simon Mead, Lucía Chávez-Gutiérrez, P Gami, Philip A. Barber, Nick C. Fox, António J. Bastos-Leite, Natalie S. Ryan, Jonathan M. Schott, Tamas Revesz
Publikováno v:
Neurobiology of Aging, 36(12), 3140. Elsevier Inc.
Familial Alzheimer's disease (FAD) treatment trials raise interest in the variable occurrence of cerebral amyloid angiopathy (CAA); an emerging important factor in amyloid-modifying therapy. Previous pathological studies reported particularly severe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6849dfff90725f15fe698d64ff47c7
https://dspace.library.uu.nl/handle/1874/332342
https://dspace.library.uu.nl/handle/1874/332342
Autor:
Martin N. Rossor, Natalie S. Ryan
Publikováno v:
Biomarkers in Medicine. 4:99-112
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominan
Autor:
Nick C. Fox, Jonathan W. Bartlett, John Hardy, Gerard R. Ridgway, Jason D. Warren, Josephine Barnes, Matthew J. Clarkson, Martin N. Rossor, Jon Beck, Rachael I. Scahill, Jonathan M. Schott, Sebastian J. Crutch, Natalie S. Ryan, Sebastien Ourselin, Simon Mead
Mutations in the presenilin1 (PSEN1) and amyloid beta-protein precursor (APP) genes account for the majority of cases of autosomal dominantly inherited Alzheimer's disease (AD). We wished to assess and compare the patterns of cerebral loss produced b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b88b57618c99c03a8b3749b7d56566
https://europepmc.org/articles/PMC4982537/
https://europepmc.org/articles/PMC4982537/
Autor:
Nick C. Fox, James C. Stevens, S Abbs, Natalie S. Ryan, Ana Lukic, James M. Beck, Simon Mead, John Collinge
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry, 82(9), 1054-1057. BMJ Publishing Group
Stevens, J, Beck, J, Lukic, A, Ryan, N, Abbs, S, Collinge, J, Fox, N C & Mead, S 2011, ' Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 82, no. 9, pp. 1054-1057 . https://doi.org/10.1136/jnnp.2009.199653
Stevens, J, Beck, J, Lukic, A, Ryan, N, Abbs, S, Collinge, J, Fox, N C & Mead, S 2011, ' Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 82, no. 9, pp. 1054-1057 . https://doi.org/10.1136/jnnp.2009.199653
Aims To ascertain the frequency and geographical distribution of patients diagnosed with known genetic causes of Alzheimer9s disease (AD) and inherited prion disease (IPD) in the UK 2001–2005. By comparison with frequencies predicted from published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5022a63613b0a5c379ed4d129b63226f
https://research.vumc.nl/en/publications/2200b145-7abb-4c77-979c-a746c885f8f4
https://research.vumc.nl/en/publications/2200b145-7abb-4c77-979c-a746c885f8f4