Zobrazeno 1 - 10
of 219
pro vyhledávání: '"Thomas H. Gillingwater"'
Autor:
Rachel James, Kiterie M. E. Faller, Ewout J. N. Groen, Brunhilde Wirth, Thomas H. Gillingwater
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-6 (2024)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive childhood-onset neuromuscular disease with a carrier frequency of ~1:50. Mitochondrial abnormalities are widespread in patients with SMA. Disease carriers for SMA (i.e., the
Externí odkaz:
https://doaj.org/article/5252b888b4e341b0b3d33174f8d291e1
Autor:
Yu-Ting Huang, Hannah R. Crick, Helena Chaytow, Dinja van der Hoorn, Abrar Alhindi, Ross A. Jones, Ralph D. Hector, Stuart R. Cobb, Thomas H. Gillingwater
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 617-628 (2023)
Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND). Molecular pathways governing NMJ stability are therefore of interest from both biological and therap
Externí odkaz:
https://doaj.org/article/144e9889a3c544119b067184d54902d8
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
Autor:
Emma M. Perkins, Karen Burr, Poulomi Banerjee, Arpan R. Mehta, Owen Dando, Bhuvaneish T. Selvaraj, Daumante Suminaite, Jyoti Nanda, Christopher M. Henstridge, Thomas H. Gillingwater, Giles E. Hardingham, David J. A. Wyllie, Siddharthan Chandran, Matthew R. Livesey
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) patients, including those harbouring the C9ORF72 re
Externí odkaz:
https://doaj.org/article/42ab8bf0a50247d5a329f4bef1e411b0
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:
Rachel A. Kline, Lena Lößlein, Dominic Kurian, Judit Aguilar Martí, Samantha L. Eaton, Felipe A. Court, Thomas H. Gillingwater, Thomas M. Wishart
Publikováno v:
Cells, Vol 11, Iss 17, p 2653 (2022)
Recent advances in proteomic technologies now allow unparalleled assessment of the molecular composition of a wide range of sample types. However, the application of such technologies and techniques should not be undertaken lightly. Here, we describe
Externí odkaz:
https://doaj.org/article/bf309651417e499eb255c76a496cd0b7
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
Autor:
Alethea H.C.M. Kelsey, Victoria McCulloch, Thomas H. Gillingwater, Gordon S. Findlater, Jennifer Z. Paxton
Publikováno v:
Translational Research in Anatomy, Vol 19, Iss , Pp - (2020)
Background: The growing use of online education tools, combined with an increasing demand for anatomical education from non-traditional student cohorts, prompted us to develop a postgraduate Anatomical Sciences degree programme. Taught entirely onlin
Externí odkaz:
https://doaj.org/article/230425db6c4d400f85ff2d3ebaa6d26c
Autor:
Sylvia Badurek, Marilena Griguoli, Aman Asif-Malik, Barbara Zonta, Fei Guo, Silvia Middei, Laura Lagostena, Maria Teresa Jurado-Parras, Thomas H. Gillingwater, Agnès Gruart, José María Delgado-García, Enrico Cherubini, Liliana Minichiello
Publikováno v:
iScience, Vol 23, Iss 5, Pp - (2020)
Summary: Early in brain development, impaired neuronal signaling during time-sensitive windows triggers the onset of neurodevelopmental disorders. GABA, through its depolarizing and excitatory actions, drives early developmental events including neur
Externí odkaz:
https://doaj.org/article/2880f8a3122b4856a0cc9a58b1dfea98
Autor:
Gavin Minty, Alex Hoppen, Ines Boehm, Abrar Alhindi, Larissa Gibb, Ellie Potter, Boris C. Wagner, Janice Miller, Richard J. E. Skipworth, Thomas H. Gillingwater, Ross A. Jones
Publikováno v:
Royal Society Open Science, Vol 7, Iss 4 (2020)
Large-scale data analysis of synaptic morphology is becoming increasingly important to the field of neurobiological research (e.g. ‘connectomics’). In particular, a detailed knowledge of neuromuscular junction (NMJ) morphology has proven to be im
Externí odkaz:
https://doaj.org/article/9c8ceb41b92b4d28aa05c71a2d8e97f4