Zobrazeno 1 - 10
of 588
pro vyhledávání: '"Alexander JM"'
Publikováno v:
BMC Cardiovascular Disorders, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background and Aims Sodium-glucose co-transporter 2 (SGLT2) inhibitors have beneficial effects in heart failure (HF), including reverse remodelling, but the mechanisms by which these benefits are conferred are unclear. Inflammation is implic
Externí odkaz:
https://doaj.org/article/33a82ecb2bdf4a93a0f66ac54313e311
Autor:
Blakes, Alexander JM, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew GL, Genomics England Research Consortium, Splicing, Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Funder: Wessex Medical Research
Funder: Health Education England
Funder: Rosetrees Trust
BACKGROUND: Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonic
Funder: Health Education England
Funder: Rosetrees Trust
BACKGROUND: Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ba3eb4525e0e70d291a5a83c537cd1e
Autor:
Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
Publikováno v:
medRxiv
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
Autor:
Elke De Boer, Dmitrijs Rots, Alexander Stegmann, Anne-Sophie Denommé-Pichon, Sally Ann Lynch, Alexander JM Dingemans, Charlotte Ockeloen, Antonio Vitobello
PurposeAlthough haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized the clinical, molecular and functional spectra of ANK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::38c822b29883ce8f7993ce342a2a56ba
https://doi.org/10.1101/2021.12.20.21267971
https://doi.org/10.1101/2021.12.20.21267971
Autor:
Veale, Thomas, Malone, Ian B, Poole, Teresa, Parker, Thomas D, Slattery, Catherine F, Paterson, Ross W, Foulkes, Alexander JM, Thomas, David L, Schott, Jonathan M, Zhang, Hui, Fox, Nick C, Cash, David M
Publikováno v:
Brain Communications
Pathological cerebral white matter changes in Alzheimer's disease have been shown using diffusion tensor imaging. Superficial white matter changes are relatively understudied despite their importance in cortico-cortical connections. Measuring superfi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::95ebc2443ff8ef0bc72997f1436c58cf
https://researchonline.lshtm.ac.uk/id/eprint/4663897/1/veale_etal_2021_fcab272.pdf
https://researchonline.lshtm.ac.uk/id/eprint/4663897/1/veale_etal_2021_fcab272.pdf
Autor:
Alexander Jm, Brielle C. Stark
Purpose: While behavioral aphasia therapy is beneficial (Brady et al., 2016), we do not fully understand factors that predict therapy response, or that contribute to extra-linguistic aspects of living with aphasia (e.g., psychosocial). The purpose of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::836d04de647ad17f80aed95b5f1ca0e3
https://doi.org/10.31234/osf.io/548ku
https://doi.org/10.31234/osf.io/548ku
Autor:
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, DDD Study, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
PurposePathogenic variantsin KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::6eecb8e146338cfb597c0809e64ec872
https://escholarship.org/uc/item/79s761gb
https://escholarship.org/uc/item/79s761gb
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 7, Iss 1, p 2 (2012)
Abstract Background The clavicle hook plate achieves like most other operative techniques, a high percentage of union and a low percentage of complications however concerns about long term complications still exist, particularly the involvement of th
Externí odkaz:
https://doaj.org/article/2e9d5a0107fe4ce583f96b345e1c9b30
Autor:
Yong, Keir XX, McCarthy, Ian D, Poole, Teresa, Suzuki, Tatsuto, Yang, Biao, Carton, Amelia M, Holloway, Catherine, Papadosifos, Nikolaos, Boampong, Derrick, Langham, Julia, Slattery, Catherine F, Paterson, Ross W, Foulkes, Alexander JM, Schott, Jonathan M, Frost, Chris, Tyler, Nick, Crutch, Sebastian J
OBJECTIVE: Deficits in spatial navigation are characteristic and disabling features of typical Alzheimer's disease (tAD) and posterior cortical atrophy (PCA). Visual cues have been proposed to mitigate such deficits; however, there is currently littl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::7d9300747e498b1af3e554901e2b8124
https://researchonline.lshtm.ac.uk/id/eprint/4648316/1/Navigational-cue-effects-in-Alzheimers-disease-and-posterior-cortical-atrophy.pdf
https://researchonline.lshtm.ac.uk/id/eprint/4648316/1/Navigational-cue-effects-in-Alzheimers-disease-and-posterior-cortical-atrophy.pdf
Autor:
Parker, Thomas D, Slattery, Catherine F, Zhang, Jiaying, Nicholas, Jennifer M, Paterson, Ross W, Foulkes, Alexander JM, Malone, Ian B, Thomas, David L, Modat, Marc, Cash, David M, Crutch, Sebastian J, Alexander, Daniel C, Ourselin, Sebastien, Fox, Nick C, Zhang, Hui, Schott, Jonathan M
Alzheimer's disease (AD) is associated with extensive alterations in grey matter microstructure, but our ability to quantify this in vivo is limited. Neurite orientation dispersion and density imaging (NODDI) is a multi-shell diffusion MRI technique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::1ec84b51d43de0250421f4e3b2378f3a