Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Nadia L. Mitchell"'
Autor:
Claire O’Leary, Gabriella Forte, Nadia L. Mitchell, Amir Saam Youshani, Adam Dyer, Martin P. Wellby, Katharina N. Russell, Samantha J. Murray, Nelly Jolinon, Simon A Jones, Kevin Stacey, Daniel M. Davis, Els Henckaerts, David N. Palmer, Ian Kamaly-Asl, Brian W. Bigger
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-17 (2023)
Abstract Background Mucopolysaccharidosis IIIC (MPSIIIC) is one of four Sanfilippo diseases sharing clinical symptoms of severe cognitive decline and shortened lifespan. The missing enzyme, heparan sulfate acetyl-CoA: α-glucosaminide-N-acetyltransfe
Externí odkaz:
https://doaj.org/article/193bffc76643439f9aca34c4f8d77145
Autor:
Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Steven J. Gray, David N. Palmer, Nadia L. Mitchell
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Mutations in the CLN5 gene cause the fatal, pediatric, neurodegenerative disease CLN5 neuronal ceroid lipofuscinosis. Affected children suffer progressive neuronal loss, visual failure and premature death. Presently there is no treatment. This study
Externí odkaz:
https://doaj.org/article/27adefd2e5a249e9bdfcb4b3c410eca6
Autor:
Nadia L. Mitchell, Samantha J. Murray, Martin P. Wellby, Graham K. Barrell, Katharina N. Russell, Ashley R. Deane, John R. Wynyard, Madeleine J. Palmer, Anila Pulickan, Phillipa M. Prendergast, Widler Casy, Steven J. Gray, David N. Palmer
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
CLN5 neuronal ceroid lipofuscinosis (NCL, Batten disease) is a rare, inherited fatal neurodegenerative disorder caused by mutations in the CLN5 gene. The disease is characterised by progressive neuronal loss, blindness, and premature death. There is
Externí odkaz:
https://doaj.org/article/0b3841eb04d94ae8a49a800c13cac451
Autor:
Samantha J. Murray, Nadia L. Mitchell
Publikováno v:
Frontiers in Veterinary Science, Vol 9 (2022)
The past two decades have seen a considerable rise in the use of sheep to model human neurological disorders. While each animal model has its merits, sheep have many advantages over small animal models when it comes to studies on the brain. In partic
Externí odkaz:
https://doaj.org/article/efc4a608cd274f6b861d3a9bec8653c3
Autor:
Katharina N. Russell, Nadia L. Mitchell, Martin P. Wellby, Graham K. Barrell, David N. Palmer
Publikováno v:
Data in Brief, Vol 37, Iss , Pp 107188- (2021)
This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscino
Externí odkaz:
https://doaj.org/article/1b72f10f2115482caf07b510cf7d074f
Autor:
Samantha L. Eaton, Fraser Murdoch, Nina M. Rzechorzek, Gerard Thompson, Claudia Hartley, Benjamin Thomas Blacklock, Chris Proudfoot, Simon G. Lillico, Peter Tennant, Adrian Ritchie, James Nixon, Paul M. Brennan, Stefano Guido, Nadia L. Mitchell, David N. Palmer, C. Bruce A. Whitelaw, Jonathan D. Cooper, Thomas M. Wishart
Publikováno v:
Cells, Vol 11, Iss 17, p 2641 (2022)
Issue: The impact of neurological disorders is recognised globally, with one in six people affected in their lifetime and few treatments to slow or halt disease progression. This is due in part to the increasing ageing population, and is confounded b
Externí odkaz:
https://doaj.org/article/f845c8ece4d54008a0fb30760828a416
Publikováno v:
Neurobiology of Disease, Vol 62, Iss , Pp 543-550 (2014)
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are inherited neurodegenerative lysosomal storage diseases caused by mutations in several different genes. Mutations in CLN5 cause a variant late-infantile human disease and some cases of juve
Externí odkaz:
https://doaj.org/article/481ea628b9714ca6b19d11069eb06a2e
Autor:
Tony Frugier, Nadia L. Mitchell, Imke Tammen, Peter J. Houweling, Donald G. Arthur, Graham W. Kay, Otto P. van Diggelen, Robert D. Jolly, David N. Palmer
Publikováno v:
Neurobiology of Disease, Vol 29, Iss 2, Pp 306-315 (2008)
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different genes have been identified, each assoc
Externí odkaz:
https://doaj.org/article/2241bf5d182a412881e7422232d03979
Publikováno v:
Developmental Neurobiology.
Autor:
Nadia L. Mitchell, Samantha J. Murray
Publikováno v:
Journal of Visualized Experiments.