Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Megan B O'Hare"'
Autor:
Kyle J. Connolly, Megan B. O’Hare, Alamin Mohammed, Katelyn M. Aitchison, Niki C. Anthoney, Matthew J. Taylor, Bryan A. Stewart, Richard I. Tuxworth, Guy Tear
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-14 (2019)
Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, monogenic neurodegenerative disorders with an early onset in infancy or childhood. Despite identification of the genes disrupted in each form of the disease, their normal cellul
Externí odkaz:
https://doaj.org/article/2dfeb1df3f464c07b371924c3830b445
Autor:
Piers Kotting, Adam Smith, Megan B. O'Hare, Clarissa Giebel, Lakshini Mendis, Clare Shaw, Imogen Shillito, Martin N. Rossor
Publikováno v:
Alzheimer’s & Dementia: Translational Research & Clinical Interventions, Vol 7, Iss 1, Pp n/a-n/a (2021)
Abstract Introduction Barriers to recruitment for dementia studies are well documented. As part of the UK government's Dementia 2020 strategy, a nationally consistent system to increase public engagement and participation in research was launched in
Externí odkaz:
https://doaj.org/article/e090c5710eac4e769e56f9dac34964e1
Publikováno v:
Neurobiology of Disease, Vol 103, Iss , Pp 123-132 (2017)
The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins. Studies of the cell biology underpinn
Externí odkaz:
https://doaj.org/article/f7ddc8dbdb43437bbe789b3963653a13
Autor:
Marina Romanello, Claudia Di Napoli, Paul Drummond, Carole Green, Harry Kennard, Pete Lampard, Daniel Scamman, Nigel Arnell, Sonja Ayeb-Karlsson, Lea Berrang Ford, Kristine Belesova, Kathryn Bowen, Wenjia Cai, Max Callaghan, Diarmid Campbell-Lendrum, Jonathan Chambers, Kim R van Daalen, Carole Dalin, Niheer Dasandi, Shouro Dasgupta, Michael Davies, Paula Dominguez-Salas, Robert Dubrow, Kristie L Ebi, Matthew Eckelman, Paul Ekins, Luis E Escobar, Lucien Georgeson, Hilary Graham, Samuel H Gunther, Ian Hamilton, Yun Hang, Risto Hänninen, Stella Hartinger, Kehan He, Jeremy J Hess, Shih-Che Hsu, Slava Jankin, Louis Jamart, Ollie Jay, Ilan Kelman, Gregor Kiesewetter, Patrick Kinney, Tord Kjellstrom, Dominic Kniveton, Jason K W Lee, Bruno Lemke, Yang Liu, Zhao Liu, Melissa Lott, Martin Lotto Batista, Rachel Lowe, Frances MacGuire, Maquins Odhiambo Sewe, Jaime Martinez-Urtaza, Mark Maslin, Lucy McAllister, Alice McGushin, Celia McMichael, Zhifu Mi, James Milner, Kelton Minor, Jan C Minx, Nahid Mohajeri, Maziar Moradi-Lakeh, Karyn Morrissey, Simon Munzert, Kris A Murray, Tara Neville, Maria Nilsson, Nick Obradovich, Megan B O'Hare, Tadj Oreszczyn, Matthias Otto, Fereidoon Owfi, Olivia Pearman, Mahnaz Rabbaniha, Elizabeth J Z Robinson, Joacim Rocklöv, Renee N Salas, Jan C Semenza, Jodi D Sherman, Liuhua Shi, Joy Shumake-Guillemot, Grant Silbert, Mikhail Sofiev, Marco Springmann, Jennifer Stowell, Meisam Tabatabaei, Jonathon Taylor, Joaquin Triñanes, Fabian Wagner, Paul Wilkinson, Matthew Winning, Marisol Yglesias-González, Shihui Zhang, Peng Gong, Hugh Montgomery, Anthony Costello
Publikováno v:
The Lancet
Executive summary. The 2022 report of the Lancet Countdown is published as the world confronts profound and concurrent systemic shocks. Countries and health systems continue to contend with the health, social, and economic impacts of the COVID-19 pan
Autor:
Amy L Roberts, Niki C Anthoney, Alamin Mohammed, Guy Tear, Richard I. Tuxworth, Megan B. O'Hare, Katelyn C Aitchison, Kyle J. Connolly, Matthew J. Taylor, Bryan A. Stewart
The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, monogenic neurodegenerative disorders with an early onset in infancy or childhood. Despite identification of the genes disrupted in each form of the disease, their normal cellular role a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed467da842c8f8ec9dde817db1a1769b
Publikováno v:
Neurobiology of Disease
Mohammed, A, O'Hare, M, Warley, A, Tear, G & Tuxworth, R 2017, ' in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels ', Neurobiology of Disease . https://doi.org/10.1016/j.nbd.2017.03.015
Neurobiology of Disease, Vol 103, Iss, Pp 123-132 (2017)
Mohammed, A, O'Hare, M, Warley, A, Tear, G & Tuxworth, R 2017, ' in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels ', Neurobiology of Disease . https://doi.org/10.1016/j.nbd.2017.03.015
Neurobiology of Disease, Vol 103, Iss, Pp 123-132 (2017)
The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins. Studies of the cell biology underpinn
Publikováno v:
Human Molecular Genetics
Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease. CLN3 encodes a multi-spanning and hydrophobic transmembrane protein whose function is unclear. As a consequence,