Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Stephen W, Reddel"'
Autor:
Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
Abstract Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for t
Externí odkaz:
https://doaj.org/article/79ad47869fef4ce592ef6200019d368c
Autor:
Catharina C. Gross, Céline Meyer, Urvashi Bhatia, Lidia Yshii, Ilka Kleffner, Jan Bauer, Anna R. Tröscher, Andreas Schulte-Mecklenbeck, Sebastian Herich, Tilman Schneider-Hohendorf, Henrike Plate, Tanja Kuhlmann, Markus Schwaninger, Wolfgang Brück, Marc Pawlitzki, David-Axel Laplaud, Delphine Loussouarn, John Parratt, Michael Barnett, Michael E. Buckland, Todd A. Hardy, Stephen W. Reddel, Marius Ringelstein, Jan Dörr, Brigitte Wildemann, Markus Kraemer, Hans Lassmann, Romana Höftberger, Eduardo Beltrán, Klaus Dornmair, Nicholas Schwab, Luisa Klotz, Sven G. Meuth, Guillaume Martin-Blondel, Heinz Wiendl, Roland Liblau
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Susac syndrome is an inflammatory pathology of the brain endothelium. Here the authors show that the pathology is driven by CD8 T cells attacking the endothelium, and that blocking T cell-endothelial adhesion ameliorates the disease in a mouse model,
Externí odkaz:
https://doaj.org/article/4c98395f104445a7a39848447428e6cc
Autor:
Laura Clarke, Simon Arnett, Wajih Bukhari, Elham Khalilidehkordi, Sofia Jimenez Sanchez, Cullen O'Gorman, Jing Sun, Kerri M. Prain, Mark Woodhall, Roger Silvestrini, Christine S. Bundell, David A. Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J. Brew, Wallace Brownlee, Helmut Butzkueven, William M. Carroll, Cella Chen, Alan Coulthard, Russell C. Dale, Chandi Das, Marzena J. Fabis-Pedrini, David Gillis, Simon Hawke, Robert Heard, Andrew P. D. Henderson, Saman Heshmat, Suzanne Hodgkinson, Trevor J. Kilpatrick, John King, Christopher Kneebone, Andrew J. Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christopher Lynch, Richard A. L. Macdonell, Deborah F. Mason, Pamela A. McCombe, Jennifer Pereira, John D. Pollard, Sudarshini Ramanathan, Stephen W. Reddel, Cameron P. Shaw, Judith M. Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C. Wong, Eppie M. Yiu, Michael H. Barnett, Allan G. K. Kermode, Mark P. Marriott, John D. E. Parratt, Mark Slee, Bruce V. Taylor, Ernest Willoughby, Fabienne Brilot, Angela Vincent, Patrick Waters, Simon A. Broadley
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) are inflammatory diseases of the CNS. Overlap in the clinical and MRI features of NMOSD and MS means that distinguishing these conditions can be difficult. With the aim of eva
Externí odkaz:
https://doaj.org/article/9881dfe6e71f44f48b35ffd764478289
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
Autor:
Fiona Tea, Joseph A. Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona X. Z. Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M. Tantsis, Eppie M. Yiu, Steve Vucic, Andrew P. D. Henderson, Anthony Fok, Clare L. Fraser, Jeanette Lechner-Scott, Stephen W. Reddel, Simon Broadley, Michael H. Barnett, David A. Brown, Jan D. Lunemann, Russell C. Dale, Fabienne Brilot, the Australasian and New Zealand MOG Study Group
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-22 (2019)
Abstract Over recent years, human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have been associated with monophasic and relapsing central nervous system demyelination involving the optic nerves, spinal cord, and brain. While
Externí odkaz:
https://doaj.org/article/607b345479a846fb9c66797c81d8bfbb
Autor:
Elham Khalilidehkordi, Laura Clarke, Simon Arnett, Wajih Bukhari, Sofia Jimenez Sanchez, Cullen O'Gorman, Jing Sun, Kerri M. Prain, Mark Woodhall, Roger Silvestrini, Christine S. Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J. Brew, Matthew Brown, Wallace Brownlee, Helmut Butzkueven, William M. Carroll, Celia Chen, Alan Coulthard, Russell C. Dale, Chandi Das, Marzena J. Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P. D. Henderson, Saman Heshmat, Suzanne Hodgkinson, Trevor J. Kilpatrick, John King, Chris Kneebone, Andrew J. Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christopher Lynch, Richard A. L. Macdonell, Deborah F. Mason, Pamela A. McCombe, Jennifer Pereira, John D. Pollard, Sudarshini Ramanathan, Stephen W. Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C. Wong, Eppie M. Yiu, Michael H. Barnett, Allan G. Kermode, Mark P. Marriott, John Parratt, Mark Slee, Bruce V. Taylor, Ernest Willoughby, Fabienne Brilot, Angela Vincent, Patrick Waters, Simon A. Broadley
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) show overlap in their clinical features. We performed an analysis of relapses with the aim of determining differences between the two conditions. Cases of NMOSD and age- and
Externí odkaz:
https://doaj.org/article/9368fd0e4b594e0a86dbfe7d5222074a
Autor:
Fiona Tea, Deepti Pilli, Sudarshini Ramanathan, Joseph A. Lopez, Vera Merheb, Fiona X. Z. Lee, Alicia Zou, Ganesha Liyanage, Chelsea B. Bassett, Selina Thomsen, Stephen W. Reddel, Michael H. Barnett, David A. Brown, Russell C. Dale, Fabienne Brilot, Australasian New Zealand MOG Study Group
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Human autoantibodies targeting myelin oligodendrocyte glycoprotein (MOG Ab) have become a useful clinical biomarker for the diagnosis of a spectrum of inflammatory demyelinating disorders. Live cell-based assays that detect MOG Ab against conformatio
Externí odkaz:
https://doaj.org/article/bebc966318534399aa813bdf8f3eeb7b
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark R. Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Peter K. Panegyres, Kishore R. Kumar
Publikováno v:
The Cerebellum.
Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar a
Autor:
Masahiro Nishide, Kathleen Le Marquand, Mark Davis, Gábor M. Halmágyi, Avi Fellner, Ramesh K. Narayanan, Marina L. Kennerson, Stephen W. Reddel, Lisa Worgan, Kishore R. Kumar
Autosomal dominant disease-causing variants in the ELOVL4 gene (Elongation of Very Long Chain Fatty Acids-like 4) cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49c9a545e2d968c3b273a659f6b67cb2
https://doi.org/10.21203/rs.3.rs-2198569/v1
https://doi.org/10.21203/rs.3.rs-2198569/v1
Autor:
Matthew R. Watts, Renee C.F. Chan, Elaine Y.L. Cheong, Susan Brammah, Kate R. Clezy, Chiwai Tong, Deborah Marriott, Cameron E. Webb, Bobby Chacko, Vivienne Tobias, Alexander C. Outhred, Andrew S. Field, Michael V. Prowse, James V. Bertouch, Damien Stark, Stephen W. Reddel
Publikováno v:
Emerging Infectious Diseases, Vol 20, Iss 2, Pp 185-191 (2014)
The insect microsporidian Anncaliia algerae was first described in 2004 as a cause of fatal myositis in an immunosuppressed person from Pennsylvania, USA. Two cases were subsequently reported, and we detail 2 additional cases, including the only nonf
Externí odkaz:
https://doaj.org/article/ccebd282fc5844cda339962468149c37
Autor:
Stephen W. Reddel, Benjamin P. Jonker, Elizabeth Thompson, Miriam S. Welgampola, Allison S. Young
Publikováno v:
Journal of Neurology. 268:4371-4373