Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Simon H, Parson"'
Autor:
Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, Francesco Muntoni
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 21 (2022)
Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cord motor neurons caused by deficiency of the ubiquitously expressed SMN protein. Here, we present a retinal vascular defect in patients, recapitulated in SMA tr
Externí odkaz:
https://doaj.org/article/7bf2c0654d0b499f9112525f28926aef
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1580-1593 (2020)
Abstract Objective The purpose of the study was to determine the extent and role of systemic hypoxia in the pathogenesis of spinal muscular atrophy (SMA). Methods Hypoxia was assayed in vivo in early‐symptomatic (postnatal day 5) SMA‐model mice b
Externí odkaz:
https://doaj.org/article/cd313f6cbcdb4f948533e890513364d8
Autor:
Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman Chardon, Hugh J. McMillan, Yu‐Ting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Melissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1519-1532 (2019)
Abstract Objective Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder leading to paralysis and subsequent death in young children. Initially considered a motor neuron disease, extra‐neuronal involvement is increasingly recognized.
Externí odkaz:
https://doaj.org/article/fc27db022435433fb87c7d2bb5016994
Autor:
Marc-Olivier Deguise, Chantal Pileggi, Yves De Repentigny, Ariane Beauvais, Alexandra Tierney, Lucia Chehade, Jean Michaud, Maica Llavero-Hurtado, Douglas Lamont, Abdelmadjid Atrih, Thomas M. Wishart, Thomas H. Gillingwater, Bernard L. Schneider, Mary-Ellen Harper, Simon H. Parson, Rashmi Kothary
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 1, Pp 354-377.e3 (2021)
Background & Aims: Nonalcoholic fatty liver disease (NAFLD) is considered a health epidemic with potential devastating effects on the patients and the healthcare systems. Current preclinical models of NAFLD are invariably imperfect and generally take
Externí odkaz:
https://doaj.org/article/17bff1dec6fd49edbbb066b4aa9e5172
The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy
Publikováno v:
Brain Sciences, Vol 11, Iss 2, p 131 (2021)
Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by prog
Externí odkaz:
https://doaj.org/article/ede55ddc25a24457b4a0d5c2f3adf8df
Autor:
Bernard L. Schneider, Rashmi Kothary, Maica Llavero-Hurtado, Thomas H. Gillingwater, Abdelmadjid Atrih, Alexandra Tierney, Jean Michaud, Ariane Beauvais, Thomas M. Wishart, Lucia Chehade, Marc-Olivier Deguise, Douglas J. Lamont, Simon H. Parson, Yves De Repentigny, Mary-Ellen Harper, Chantal A. Pileggi
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 1, Pp 354-377.e3 (2021)
Cellular and Molecular Gastroenterology and Hepatology
Deguise, M-O, Pileggi, C, De Repentigny, Y, Beauvais, A, Tierney, A, Chehade, L, Michaud, J, Llavero hurtado, M, Lamont, D, Atrih, A, Wishart, T, Gillingwater, T, Schneider, B L, Harper, M-E, Parson, S & Kothary, R 2021, ' SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease ', Cellular and Molecular Gastroenterology and Hepatology . https://doi.org/10.1016/j.jcmgh.2021.01.019
Cellular and Molecular Gastroenterology and Hepatology
Deguise, M-O, Pileggi, C, De Repentigny, Y, Beauvais, A, Tierney, A, Chehade, L, Michaud, J, Llavero hurtado, M, Lamont, D, Atrih, A, Wishart, T, Gillingwater, T, Schneider, B L, Harper, M-E, Parson, S & Kothary, R 2021, ' SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease ', Cellular and Molecular Gastroenterology and Hepatology . https://doi.org/10.1016/j.jcmgh.2021.01.019
Background & Aims Nonalcoholic fatty liver disease (NAFLD) is considered a health epidemic with potential devastating effects on the patients and the healthcare systems. Current preclinical models of NAFLD are invariably imperfect and generally take
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7a717cf593f4034226b292cb0ee07cc
http://www.sciencedirect.com/science/article/pii/S2352345X21000254
http://www.sciencedirect.com/science/article/pii/S2352345X21000254
Autor:
Palittiya Sintusek, Francesco Catapano, Napat Angkathunkayul, Elena Marrosu, Simon H Parson, Jennifer E Morgan, Francesco Muntoni, Haiyan Zhou
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0155032 (2016)
Gastrointestinal (GI) defects, including gastroesophageal reflux, constipation and delayed gastric emptying, are common in patients with spinal muscular atrophy (SMA). Similar GI dysmotility has been identified in mouse models with survival of motor
Externí odkaz:
https://doaj.org/article/3f82b4e1eb4343598e834c990054bf41
Autor:
Carly N Bisset, Eamonn Ferguson, Ewan MacDermid, Sharon L Stein, Nuha Yassin, Nicola Dames, Deborah S Keller, Raymond Oliphant, Simon H Parson, Jennifer Cleland, Susan J Moug
Publikováno v:
The British journal of surgery. 109(11)
Background Decision-making under uncertainty may be influenced by an individual’s personality. The primary aim was to explore associations between surgeon personality traits and colorectal anastomotic decision-making. Methods Colorectal surgeons wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895b097802ec4e1e8f5058ce81437e6c
https://pubmed.ncbi.nlm.nih.gov/35851801
https://pubmed.ncbi.nlm.nih.gov/35851801
Autor:
Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, Francesco Muntoni
Publikováno v:
The Journal of Clinical Investigation
Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cord motor neurons caused by deficiency of the ubiquitously expressed SMN protein. Here, we present a retinal vascular defect in patients, recapitulated in SMA tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b21dbe007a6f4a156ed37252a27c716
https://pubmed.ncbi.nlm.nih.gov/36099045
https://pubmed.ncbi.nlm.nih.gov/36099045
Autor:
Thomas H. Gillingwater, Catherine McWilliam, Iain Horrocks, Kenneth McWilliam, Mark Hamilton, Elaine Fletcher, Nicola Williams, Sarah Smith, Simon H. Parson
Publikováno v:
Gillingwater, T H, McWilliam, C, Horrocks, I, McWilliam, K, Hamilton, M, Fletcher, E, Williams, N, Smith, S & Parson, S H 2022, ' A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland ', Scottish Medical Journal, vol. 67, no. 1, pp. 46-47 . https://doi.org/10.1177/00369330221078994
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5673cf621e80444d2c5533920c908f5
https://doi.org/10.1177/00369330221078994
https://doi.org/10.1177/00369330221078994