Zobrazeno 1 - 10
of 310
pro vyhledávání: '"Pamela A. McCombe"'
Autor:
Leanne Jiang, Timothy J. Tracey, Melinder K. Gill, Stephanie L. Howe, Dominique T. Power, Vanda Bharti, Pamela A. McCombe, Robert D. Henderson, Frederik J. Steyn, Shyuan T. Ngo
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103447- (2024)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Clinical heterogeneity and complex genetics pose challenges to understanding disease mechanisms and producing effective cures. To model clinical heterogeneity, we generated hum
Externí odkaz:
https://doaj.org/article/938777d3d12f4a83af0729ff4605e215
Autor:
Qiao Ding, Kaamini Kesavan, Kah Meng Lee, Elyse Wimberger, Thomas Robertson, Melinder Gill, Dominique Power, Jeryn Chang, Atefeh T. Fard, Jessica C. Mar, Robert D. Henderson, Susan Heggie, Pamela A. McCombe, Rosalind L. Jeffree, Michael J. Colditz, Massimo A. Hilliard, Dominic C. H. Ng, Frederik J. Steyn, William D. Phillips, Ernst J. Wolvetang, Shyuan T. Ngo, Peter G. Noakes
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-24 (2022)
Abstract A central event in the pathogenesis of motor neuron disease (MND) is the loss of neuromuscular junctions (NMJs), yet the mechanisms that lead to this event in MND remain to be fully elucidated. Maintenance of the NMJ relies upon neural agrin
Externí odkaz:
https://doaj.org/article/a70b618e09304b8582cd416fb065ed47
Autor:
Restuadi Restuadi, Frederik J. Steyn, Edor Kabashi, Shyuan T. Ngo, Fei-Fei Cheng, Marta F. Nabais, Mike J. Thompson, Ting Qi, Yang Wu, Anjali K. Henders, Leanne Wallace, Chris R. Bye, Bradley J. Turner, Laura Ziser, Susan Mathers, Pamela A. McCombe, Merrilee Needham, David Schultz, Matthew C. Kiernan, Wouter van Rheenen, Leonard H. van den Berg, Jan H. Veldink, Roel Ophoff, Alexander Gusev, Noah Zaitlen, Allan F. McRae, Robert D. Henderson, Naomi R. Wray, Jean Giacomotto, Fleur C. Garton
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-22 (2022)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with a genetic contribution to disease liability. Genome-wide association studies (GWAS) have identified ten risk loci to date, including the
Externí odkaz:
https://doaj.org/article/554d6d92682e49b2a277f81cb79542d2
Autor:
Matthew Katz, Leigh B. Waddell, Michaela Yuen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Pamela A. McCombe
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23). The phenotype of LGMDR23 is characterized
Externí odkaz:
https://doaj.org/article/990c7865a60b4eb096ed2ef36ea96ac0
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Guillain Barré syndrome (GBS) and its variants, and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP and its variants, are regarded as immune mediated neuropathies. Unlike in many autoimmune disorders, GBS and CIDP are more common in
Externí odkaz:
https://doaj.org/article/c2a1eb9554f14988baebc1fd9bfc9fc2
Autor:
Pamela A. McCombe, Judith M. Greer
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Experimental autoimmune encephalomyelitis (EAE) can be induced in many animal strains by inoculation with central nervous system antigens and adjuvant or by the passive transfer of lymphocytes reactive with these antigens and is widely used as an ani
Externí odkaz:
https://doaj.org/article/e897ea00a4954179b2a52271e85470f3
Autor:
Marta F. Nabais, Simon M. Laws, Tian Lin, Costanza L. Vallerga, Nicola J. Armstrong, Ian P. Blair, John B. Kwok, Karen A. Mather, George D. Mellick, Perminder S. Sachdev, Leanne Wallace, Anjali K. Henders, Ramona A. J. Zwamborn, Paul J. Hop, Katie Lunnon, Ehsan Pishva, Janou A. Y. Roubroeks, Hilkka Soininen, Magda Tsolaki, Patrizia Mecocci, Simon Lovestone, Iwona Kłoszewska, Bruno Vellas, the Australian Imaging Biomarkers and Lifestyle study, the Alzheimer’s Disease Neuroimaging Initiative, Sarah Furlong, Fleur C. Garton, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Tim J. Anderson, Steven R. Bentley, John Dalrymple-Alford, Javed Fowder, Jacob Gratten, Glenda Halliday, Ian B. Hickie, Martin Kennedy, Simon J. G. Lewis, Grant W. Montgomery, John Pearson, Toni L. Pitcher, Peter Silburn, Futao Zhang, Peter M. Visscher, Jian Yang, Anna J. Stevenson, Robert F. Hillary, Riccardo E. Marioni, Sarah E. Harris, Ian J. Deary, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Wouter van Rheenen, Leonard H. van den Berg, Pamela J. Shaw, Cristopher E. Shaw, Karen E. Morrison, Ammar Al-Chalabi, Jan H. Veldink, Eilis Hannon, Jonathan Mill, Naomi R. Wray, Allan F. McRae
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-30 (2021)
Abstract Background People with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to e
Externí odkaz:
https://doaj.org/article/201eefeb04d04cf0871060b72f55eedd
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and ma
Externí odkaz:
https://doaj.org/article/8485d9374a80447086d34d1b3933367b
Autor:
Ashwag R. Alruwaili, Kerstin Pannek, Robert D. Henderson, Marcus Gray, Nyoman D. Kurniawan, Pamela A. McCombe
Publikováno v:
BMC Medical Imaging, Vol 20, Iss 1, Pp 1-10 (2020)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by loss of upper and lower motor neurons. There is a need for an imaging biomarker to track disease progression. Previously, magnetic resonance imagi
Externí odkaz:
https://doaj.org/article/dd310c55de974d2fbfe89489807bc9c1
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