Zobrazeno 1 - 10
of 138
pro vyhledávání: '"Andrew J. Kornberg"'
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:
Lakshmi Balaji, Robin Forbes, Anita Cairns, Hugo Sampaio, Andrew J. Kornberg, Lauren Sanders, Phillipa Lamont, Christina Liang, Kristi J. Jones, Kristen Nowak, Cullen O'Gorman, Ian Woodcock, Nancy Briggs, Eppie M. Yiu, Michelle A. Farrar, Didu Kariyawasam
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 53, Iss , Pp 101237- (2024)
Summary: Background: New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their eff
Externí odkaz:
https://doaj.org/article/ad888b22332f4698b9ba4d648a9e4b48
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
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:
Sharmila Kiss, John Christodoulou, David R. Thorburn, Jeremy L. Freeman, Andrew J. Kornberg, Simone Mandelstam, Alison G. Compton, Beryl Cummings, Lynn Pais, Joy Yaplito‐Lee, Susan M. White
Publikováno v:
American Journal of Medical Genetics Part A. 191:1599-1606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f473b2026226c74e775137fc15a02b8
https://doi.org/10.1002/ajmg.a.63170
https://doi.org/10.1002/ajmg.a.63170
Autor:
Elizabeth Cole, Alison Boast, Eppie M. Yiu, Andrew J. Kornberg, Trupti Jadhav, Cristina Mignone, Yara-Natalie Abo, Philip N. Britton, Joshua Osowicki, Emma Macdonald-Laurs
Publikováno v:
Pediatric Infectious Disease Journal. 42:e173-e176
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8c11975788f818fbceb3b11d66beee1
https://doi.org/10.1097/inf.0000000000003861
https://doi.org/10.1097/inf.0000000000003861
Autor:
Katherine B. Howell, Sophie Butcher, Amy L. Schneider, Sophie Russ-Hall, Pearl R. Muzariri, Rachel Kerr, Isabella Overmars, Michael Hayman, Andrew J. Kornberg, Margie Danchin, Nigel W. Crawford, Ingrid E. Scheffer
Publikováno v:
Neurology. 100:e435-e442
Background and ObjectivesTo determine the frequency and spectrum of complications of influenza infection in individuals withSCN1A-positive Dravet syndrome (SCN1A-DS).MethodsIndividuals withSCN1A-DS were identified in neurologists' care at 2 hospitals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c0bda0b322a9f180fe3a9051e925eb7
https://doi.org/10.1212/wnl.0000000000201438
https://doi.org/10.1212/wnl.0000000000201438
Autor:
John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski
Publikováno v:
Value Health
OBJECTIVES: The objective of this study was to examine the psychometric properties of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL 4.0 GCS) in Duchenne muscular dystrophy (DMD), a rare, severely debilitating, and ultimately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8
https://doi.org/10.1016/j.jval.2021.05.016
https://doi.org/10.1016/j.jval.2021.05.016
Autor:
Edward K Murrell, Vihandha O. Wickramasinghe, Sean Massey, Russell Gear, Susan M. White, Lyndon Gallacher, John Christodoulou, Lynn Pais, Kate Pope, Cas Simons, Kirsty Carey, Paul J. Lockhart, Katrina M. Bell, Andrew J. Kornberg, Nicole J Van Bergen, Marzena Walkiewicz
Publikováno v:
Hum Mol Genet
The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and cytoplasm. Genetic variants in components of the NPC have been shown to cause a range of neurological disorders, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6d29f39246178351309c112f65cdd1
https://doi.org/10.1093/hmg/ddab248
https://doi.org/10.1093/hmg/ddab248
Autor:
Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft
Publikováno v:
Neurology Genetics. 9:e200064
ObjectiveDuchenne muscular dystrophy (DMD) is caused by pathogenic variants in the dystrophin gene (DMD). Hypermethylated CGG expansions withinDIP2B5′ UTR are associated with an intellectual development disorder. Here, we demonstrate the diagnostic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2957198293d543650e356306186e74c
https://doi.org/10.1212/nxg.0000000000200064
https://doi.org/10.1212/nxg.0000000000200064