يعرض 1 - 10 نتائج من 147 نتيجة بحث عن '"Andrew J Kornberg"', وقت الاستعلام: 0.89s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

    المؤلفون: 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

    المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/2328-9503Test

    الوصول الحر: https://doaj.org/article/79ad47869fef4ce592ef6200019d368cTest

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis

    المؤلفون: 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

    المصدر: Frontiers in Neurology, Vol 12 (2021)

    مصطلحات موضوعية: neuromyelitis optica, multiple sclerosis, magnetic resonance imaging, diagnosis, NMOSD, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.722237/fullTest; https://doaj.org/toc/1664-2295Test

    الوصول الحر: https://doaj.org/article/9881dfe6e71f44f48b35ffd764478289Test

    View record in DOAJ النص الكامل

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  3. 3
    A cryptic pathogenic NDUFV1 variant identified by RNA ‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

    المؤلفون: 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

    المصدر: American Journal of Medical Genetics Part A. 191:1599-1606

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f473b2026226c74e775137fc15a02b8Test
    https://doi.org/10.1002/ajmg.a.63170Test


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  4. 4
    Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation

    المؤلفون: 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

    المصدر: Pediatric Infectious Disease Journal. 42:e173-e176

    مصطلحات موضوعية: Microbiology (medical), Infectious Diseases, Pediatrics, Perinatology and Child Health

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b8c11975788f818fbceb3b11d66beee1Test
    https://doi.org/10.1097/inf.0000000000003861Test


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  5. 5
    Complications of Influenza A or B Virus Infection in Individuals WithSCN1A-Positive Dravet Syndrome

    المؤلفون: 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

    المصدر: Neurology. 100:e435-e442

    مصطلحات موضوعية: Neurology (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c0bda0b322a9f180fe3a9051e925eb7Test
    https://doi.org/10.1212/wnl.0000000000201438Test


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  6. 6
    دورية أكاديمية
    Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation

    المؤلفون: 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

    المصدر: Frontiers in Neurology, Vol 11 (2020)

    مصطلحات موضوعية: neuromyelitis optica, multiple sclerosis, aquaporin, epidemiology, relapse, seasonality, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00537/fullTest; https://doaj.org/toc/1664-2295Test

    الوصول الحر: https://doaj.org/article/9368fd0e4b594e0a86dbfe7d5222074aTest

    View record in DOAJ النص الكامل

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  7. 7
    Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

    المؤلفون: 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

    المصدر: Value Health

    مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
    https://doi.org/10.1016Test/j.jval.2021.05.016


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  8. 8
    Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

    المؤلفون: 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

    المصدر: Hum Mol Genet

    مصطلحات موضوعية: Genetics, Microcephaly, Ataxia, Alternative splicing, Nuclear Proteins, RNA, General Medicine, Biology, medicine.disease, Phenotype, Nuclear Pore Complex Proteins, Intellectual Disability, Proto-Oncogene Proteins, medicine, Humans, General Article, Nucleoporin, TRANSLOCATED PROMOTER REGION, medicine.symptom, Nuclear pore, Promoter Regions, Genetic, Molecular Biology, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c6d29f39246178351309c112f65cdd1Test
    https://doi.org/10.1093/hmg/ddab248Test


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  9. 9
    Transcriptome and Genome Analysis Uncovers aDMDStructural Variant

    المؤلفون: 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

    المصدر: Neurology Genetics. 9:e200064

    مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e2957198293d543650e356306186e74cTest
    https://doi.org/10.1212/nxg.0000000000200064Test


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  10. 10
    Delivering multidisciplinary neuromuscular care for children via telehealth

    المؤلفون: Kate Carroll, Justine Adams, Katy de Valle, Robin Forbes, Rachel A. Kennedy, Andrew J. Kornberg, Moya Vandeleur, Daniella Villano, Ian R. Woodcock, Eppie M. Yiu, Monique M. Ryan, Zoe Davidson

    المصدر: Musclenerve. 66(1)

    مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), COVID-19, Humans, Neurology (clinical), Child, Ambulatory Care Facilities, Pandemics, Telemedicine

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b5f6a8cf2abdd94a59f4a9ef96e18bTest
    https://pubmed.ncbi.nlm.nih.gov/35426158Test


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