Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Natalie, S Ryan"'
Autor:
Amanda Heslegrave, Lucía Chávez-Gutiérrez, Josef Pannee, Helen Rice, Imogen Swift, Antoinette O'Connor, Jennifer M. Nicholas, Emily Abel, Nanet Willumsen, Henrik Zetterberg, Simon Mead, Selina Wray, Nick C. Fox, Charles Arber, Chris Frost, James M. Polke, Erik Portelius, Kaj Blennow, Philip S.J. Weston, Teresa Poole, Natalie S. Ryan
Publikováno v:
Brain
In vitro studies of autosomal dominant Alzheimer’s disease implicate longer amyloid-β peptides in disease pathogenesis; however, less is known about the behaviour of these mutations in vivo. In this cross-sectional cohort study, we used liquid chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb18fa743001979676e88b0dddc7cfea
https://lirias.kuleuven.be/handle/123456789/679509
https://lirias.kuleuven.be/handle/123456789/679509
Autor:
Timothy J. Shakespeare, Nick C. Fox, Keir Yong, Alexandra L. Young, Ross W. Paterson, Jason D. Warren, Amelia Carton, Aida Suarez-Gonzalez, Eulogio Gil-Néciga, Basil H. Ridha, Razvan V. Marinescu, Alexander J.M. Foulkes, Ivanna M. Pavisic, Daniel C. Alexander, Sebastien Ourselin, Elizabeth K. Warrington, Neil P. Oxtoby, Natalie S. Ryan, Dilek Ocal, Manja Lehmann, Nicholas C. Firth, Catherine F. Slattery, Marc Modat, Martin N. Rossor, Gil D. Rabinovici, Silvia Primativo, Bruce L. Miller, M. Jorge Cardoso, Jonathan M. Schott, Sebastian J. Crutch
Publikováno v:
Firth, N C, Primativo, S, Marinescu, R V, Shakespeare, T J, Suarez-Gonzalez, A, Lehmann, M, Carton, A, Ocal, D, Pavisic, I, Paterson, R W, Slattery, C F, Foulkes, A J M, Ridha, B H, Gil-Néciga, E, Oxtoby, N P, Young, A L, Modat, M, Cardoso, M J, Ourselin, S, Ryan, N S, Miller, B L, Rabinovici, G D, Warrington, E K, Rossor, M N, Fox, N C, Warren, J D, Alexander, D C, Schott, J M, Yong, K X X & Crutch, S J 2019, ' Longitudinal neuroanatomical and cognitive progression of posterior cortical atrophy ', Brain, vol. 142, no. 7, pp. 2082-2095 . https://doi.org/10.1093/brain/awz136
Digital.CSIC. Repositorio Institucional del CSIC
instname
Brain : a journal of neurology, vol 142, iss 7
Brain
Digital.CSIC. Repositorio Institucional del CSIC
instname
Brain : a journal of neurology, vol 142, iss 7
Brain
In the first multicentre, international longitudinal investigation of disease progression in posterior cortical atrophy, Firth et al. reveal distinct trajectories of cognitive decline and patterns of tissue loss compared to typical Alzheimer’s dise
Autor:
Adni Investigators, Tammaryn Lashley, Josephine Barnes, Cassidy M. Fiford, Natalie S. Ryan, Carole H. Sudre, Chris Frost, Phoebe Walsh
This study investigated the relationship between white matter hyperintensities (WMH) and cerebrospinal fluid (CSF) Alzheimer's disease (AD) biomarkers. Subjects included 180 controls, 107 individuals with a significant memory concern, 320 individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97061fd799f3643bef5e5e457bca1ac3
https://researchonline.lshtm.ac.uk/id/eprint/4657622/1/Walsh-etal-2020-CSF_amyloid_is_a_consistent_predictor.pdf
https://researchonline.lshtm.ac.uk/id/eprint/4657622/1/Walsh-etal-2020-CSF_amyloid_is_a_consistent_predictor.pdf
Autor:
Tammaryn Lashley, Chris Frost, Natalie S. Ryan, Carole H. Sudre, Adni Investigators, Phoebe Walsh, Cassidy M. Fiford, Josephine Barnes
Publikováno v:
Neurobiology of aging. 97
Neurofilament light (NFL) is an emerging marker of axonal degeneration. This study investigated the relationship between white matter hyperintensities (WMHs) and plasma NFL in a large elderly cohort with, and without, cognitive impairment. We used th
Autor:
Lucía Chávez-Gutiérrez, Carmen Sánchez-Torres, Marco Antonio Meraz-Ríos, Rosalía A Santos-Mandujano, Natalie S. Ryan
Presenilin 1 gene (PSEN1) mutations are the most common cause of familial Alzheimer's disease (FAD). One of the most abundant FAD mutations, PSEN1 A431E, has been reported to be associated with spastic paraparesis in about half of its carriers, but t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9976ee083e6967f9c82fe4af6b3a8707
https://lirias.kuleuven.be/handle/123456789/665403
https://lirias.kuleuven.be/handle/123456789/665403
Autor:
Tammaryn Lashley, Catherine J. Mummery, Carolin Koriath, Olaf Ansorge, Lucía Chávez-Gutiérrez, Martin N. Rossor, Nick C. Fox, Emily Abel, James M. Polke, Natalie S. Ryan, M.R. Fraser, Simon Mead, Daniel Jiménez, Antoinette O'Connor
Publikováno v:
Neurobiology of Aging. 103:137.e1-137.e5
Mutations in the Presenilin 1 (PSEN1) gene are the most common cause of autosomal dominant familial Alzheimer's disease. We report the clinical, imaging and postmortem findings of kindred carrying a novel duplication mutation (Ile168dup) in the PSEN1
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
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease
Autor:
Kaj Blennow, Yuying Liang, Ronald Druyeh, Chris Frost, Henrik Zetterberg, Teresa Poole, Natalie S. Ryan, Simon Mead, Amanda Heslegrave, Nick C. Fox, Antoinette O'Connor, Philip S.J. Weston, Jonathan M. Schott
Publikováno v:
Alzheimer's Research & Therapy
Alzheimer’s Research & Therapy, Vol 11, Iss 1, Pp 1-7 (2019)
Alzheimer’s Research & Therapy, Vol 11, Iss 1, Pp 1-7 (2019)
Background To investigate how serum neurofilament light (NfL) concentration changes through the course of disease in familial Alzheimer’s disease (FAD) and to assess when NfL concentration first increases. Methods NfL was measured using an ultrasen
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:
Mang-Ching Lai, Tania F. Gendron, Pietro Fratta, Leonard Petrucelli, Simon Mead, Elizabeth M. C. Fisher, Adrian James Waite, Tamas Revesz, Jonathan D. Rohrer, John Collinge, Davina Hensman, Mark Poulter, Natalie S. Ryan, Jon Beck, Sarah Mizielinska, Jason D. Warren, Adrian M. Isaacs, James M. Polke, Tammaryn Lashley
Publikováno v:
Acta Neuropathologica
An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). We now report the first description of a homozygous patient and compare it to a series of