Zobrazeno 1 - 10
of 6 184
pro vyhledávání: '"Hopkin, A. A."'
Autor:
Stephanie A. Balow, Alyxis G. Coyan, Nicki Smith, Bianca E. Russell, Danielle Monteil, Robert J. Hopkin, Teresa A. Smolarek
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Background Chromoanagenesis is an umbrella term used to describe catastrophic “all at once” cellular events leading to the chaotic reconstruction of chromosomes. It is characterized by numerous rearrangements involving a small number of
Externí odkaz:
https://doaj.org/article/421b01ede5db438ca2b55bfad55481ee
Autor:
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in
Externí odkaz:
https://doaj.org/article/d2e571d283e8449eb9ed832dcb478784
Autor:
Xiaoli Du, Cara L. Barnett, Kimberly M. Widmeyer, Xinjian Wang, Diana S. Brightman, Carolee W. Noonan, Kathryn N. Weaver, Robert J. Hopkin, Yaning Wu
Publikováno v:
Clinical Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)
Key Clinical Message Recent studies have established an association between RMND1 variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in RMND1 and PLN, re
Externí odkaz:
https://doaj.org/article/367293041785439bbba69aa6dc413483
Autor:
Gareth Hopkin, Richard Branson, Paul Campbell, Holly Coole, Sophie Cooper, Francesca Edelmann, Mark Salmon
Publikováno v:
Digital Health, Vol 10 (2024)
Digital mental health technologies (DMHTs) are becoming well established within mental health services and through direct-to-consumer models. Due to their scalable nature, DMHTs may support services to bridge the gap between demand and the available
Externí odkaz:
https://doaj.org/article/13faa09a853244e690fb40e93cc5b7fe
Publikováno v:
In International Journal of Adhesion and Adhesives December 2024 135
Autor:
Leah Cuthbertson, Ulrike Löber, Jonathan S. Ish-Horowicz, Claire N. McBrien, Colin Churchward, Jeremy C. Parker, Michael T. Olanipekun, Conor Burke, Aisling McGowan, Gwyneth A. Davies, Keir E. Lewis, Julian M. Hopkin, Kian Fan Chung, Orla O’Carroll, John Faul, Joy Creaser-Thomas, Mark Andrews, Robin Ghosal, Stefan Piatek, Saffron A. G. Willis-Owen, Theda U. P. Bartolomaeus, Till Birkner, Sarah Dwyer, Nitin Kumar, Elena M. Turek, A. William Musk, Jennie Hui, Michael Hunter, Alan James, Marc-Emmanuel Dumas, Sarah Filippi, Michael J. Cox, Trevor D. Lawley, Sofia K. Forslund, Miriam F. Moffatt, William. O. C. Cookson
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Microbial communities at the airway mucosal barrier are conserved and highly ordered, in likelihood reflecting co-evolution with human host factors. Freed of selection to digest nutrients, the airway microbiome underpins cognate management o
Externí odkaz:
https://doaj.org/article/fa0a86718fb4447f9b20ab7e4ec9f322
Autor:
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinase. Olipudase alfa, an
Externí odkaz:
https://doaj.org/article/c6aca82695a34d0788dab577209b8ca8
Autor:
Tazeen Majeed, Gareth Hopkin, Katie Wang, Smriti Nepal, Nicole Votruba, Petra Gronholm, Dristy Gurung, Maya Semrau, Tanmay Bagade, Nick Farina, Christine Musyimi, Luca Pingani, Erica Breuer, Crick Lund, Graham Thornicroft, Sara Evans-Lacko
Publikováno v:
EClinicalMedicine, Vol 72, Iss , Pp 102612- (2024)
Summary: Background: Stigma exacerbates power imbalances and societal disparities, significantly impacting diverse identities and health conditions, particularly for low and middle-income countries (LMICs). Though crucial for dismantling harmful ster
Externí odkaz:
https://doaj.org/article/d49cbf6282724137848c1f8f558a20d3
Autor:
Tamsin Ford, Anne-Marie Burn, Richard Morriss, Kapil Sayal, Anthony James, Helena Tuomainen, Adam P Wagner, Bernadka Dubicka, Josephine Holland, James Roe, Saeed Nazir, Michelle Fisher, Elinor Hopkin, Lorna Wild, Nicole Fung, Kate Horton
Publikováno v:
BMJ Mental Health, Vol 27, Iss 1 (2024)
Background There are significant clinical, policy and societal concerns about the impact on young people (YP), from admission to psychiatric wards far from home. However, research evidence is scarce.Aims To investigate the impact of at-distance admis
Externí odkaz:
https://doaj.org/article/34877a368b6e4bb2bf1cdb5565a91d6f
Autor:
Majeed, Tazeen, Hopkin, Gareth, Wang, Katie, Nepal, Smriti, Votruba, Nicole, Gronholm, Petra, Gurung, Dristy, Semrau, Maya, Bagade, Tanmay, Farina, Nick, Musyimi, Christine, Pingani, Luca, Breuer, Erica, Lund, Crick, Thornicroft, Graham, Evans-Lacko, Sara
Publikováno v:
In eClinicalMedicine June 2024 72