Zobrazeno 1 - 10
of 261
pro vyhledávání: '"Robert D, Henderson"'
Autor:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG •
Externí odkaz:
https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6
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:
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/3d3a73f27b2c489eb0df7f7ab3fdcbf8
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:
Steve Vucic, Robert D. Henderson, Susan Mathers, Merrilee Needham, David Schultz, Matthew C. Kiernan, the TEALS study group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 1991-1999 (2021)
Abstract Objective Neuroinflammation is an important pathogenic mechanism in amyotrophic lateral sclerosis (ALS), with regulatory T cells (Tregs) mediating a slower rate of disease progression. Dimethyl fumarate enhances Treg levels and suppresses pr
Externí odkaz:
https://doaj.org/article/9927dc898a6147fc81a915681161ba65
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:
Ashwag R. Alruwaili, Kerstin Pannek, Robert D. Henderson, Marcus Gray, Nyoman D. Kurniawan, Pamela A. McCombe
Publikováno v:
BMC Medical Imaging, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background This study was performed to assess changes in diffusion tensor imaging (DTI) over time in patients with amyotrophic lateral sclerosis (ALS). Methods We performed DTI in 23 ALS patients who had two magnetic resonance imaging (MRI)
Externí odkaz:
https://doaj.org/article/e06d13768ad9403685c8d6d5205db056