Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jonathan, Gadian"'
Autor:
Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
PurposeBinding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6b766cc9419af7689f1a0e5ddf2db6
https://doi.org/10.1136/jmedgenet-2020-107462
https://doi.org/10.1136/jmedgenet-2020-107462
Autor:
Ming K. Lim, Ani Almoyan, Michael Eyre, Isabel Garrood, Michael Absoud, Jonathan Gadian, Ele Konstantoulaki
Publikováno v:
Developmental medicine and child neurologyREFERENCES. 64(5)
Aim To characterize the neurological and cognitive outcomes in children with antibody-negative autoimmune encephalitis (Ab-negative AE). Method A cohort of children presenting to our institution over a 10-year period with autoimmune encephalitis was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a2972e9526fa5ece2666189871142e
https://pubmed.ncbi.nlm.nih.gov/34724211
https://pubmed.ncbi.nlm.nih.gov/34724211
Autor:
Michael Absoud, Jonathan Gadian, Ming K. Lim, Stefan Spinty, Rachel Kneen, Rajat Gupta, Michael Eyre, Shakti Agrawal, Kate Lamb, Cheryl Hemingway, Katie Rose, Martin Smith, Evangeline Wassmer, Sunny Philip, Yael Hacohen, David V. Milford
Publikováno v:
Developmental Medicine & Child Neurology. 61:540-546
Our aim was to ascertain the indications, side effects, and outcomes in children receiving therapeutic plasma exchange (TPE) for neurological disorders.Medical records were retrospectively reviewed for 58 consecutive children (age ≤16y) undergoing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366c888ecb5119e43a5a0fdbc0442842
https://doi.org/10.1111/dmcn.14150
https://doi.org/10.1111/dmcn.14150
Autor:
Natalie B, Tan, Alistair T, Pagnamenta, Matteo P, Ferla, Jonathan, Gadian, Brian Hy, Chung, Marcus Cy, Chan, Jasmine Lf, Fung, Edwin, Cook, Stephen, Guter, Felix, Boschann, Andre, Heinen, Jens, Schallner, Cyril, Mignot, Boris, Keren, Sandra, Whalen, Catherine, Sarret, Dana, Mittag, Laurie, Demmer, Rachel, Stapleton, Ken, Saida, Naomichi, Matsumoto, Noriko, Miyake, Ruth, Sheffer, Hagar, Mor-Shaked, Christopher P, Barnett, Alicia B, Byrne, Hamish S, Scott, Alison, Kraus, Gerarda, Cappuccio, Nicola, Brunetti-Pierri, Raffaele, Iorio, Fabiola, Di Dato, Lynn S, Pais, Alison, Yeung, Tiong Y, Tan, Jenny C, Taylor, John, Christodoulou, Susan M, White
Publikováno v:
Journal of medical genetics. 59(5)
Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. AWe discovered aWe identified 12 unrelated individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b55174e0b53490f5ca4673011d77f422
https://pubmed.ncbi.nlm.nih.gov/34183358
https://pubmed.ncbi.nlm.nih.gov/34183358
Publikováno v:
Developmental Medicine & Child Neurology. 59:136-144
Aim A systematic literature review of intravenous immunoglobulin (IVIG) treatment of paediatric neurological conditions was performed to summarize the evidence, provide recommendations, and suggest future research. Method A MEDLINE search for article
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80947356582b55083254583bfee667e
https://doi.org/10.1111/dmcn.13349
https://doi.org/10.1111/dmcn.13349
Autor:
Terrence Thomas, Jonathan Gadian, Margherita Nosadini, Ming K. Lim, Russell C. Dale, Stefano Sartori
Publikováno v:
Developmental medicine and child neurology. 61(4)
To gather data on mycophenolate mofetil (MMF) in paediatric autoimmune/immune-mediated central nervous system (CNS) conditions, focusing on safety and factors that may affect MMF efficacy.Retrospective, multicentre study based on four paediatric neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::334214d7905674886e1a1308512f8373
https://pubmed.ncbi.nlm.nih.gov/30474195
https://pubmed.ncbi.nlm.nih.gov/30474195
Autor:
Jonathan Gadian, Ming K. Lim, Yael Hacohen, Jean-Pierre Lin, Angela Vincent, Evangeline Wassmer, Sukhvir Wright
Publikováno v:
Developmental Medicine & Child Neurology. 58:1092-1094
Expressive dysphasia and mutism are common clinical features in children and adults with N-methyl-d-aspartate receptor antibodies (NMDAR-Ab) encephalitis, and are likely to result from NMDAR hypofunction. A prodromal loss of social and communication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::382de50c65e1fcb4ce056807acc94029
https://doi.org/10.1111/dmcn.13169
https://doi.org/10.1111/dmcn.13169
Autor:
Yael Hacohen, Michael Absoud, Jean-Pierre Lin, Daniel E. Lumsden, Sanduni Kariyawasam, Jonathan Gadian, Rahul Singh, Ming K. Lim, Ata Siddiqui
Publikováno v:
Multiple sclerosis and related disorders. 4(5)
Objective To identify clinical and radiological features of children that relapse following an initial presentation of acute disseminated encephalomyelitis (ADEM). Methods Clinical records and neuroimaging of children under the age of 16 years presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0743dfab13af61a85894eb267bc4312
https://pubmed.ncbi.nlm.nih.gov/26346794
https://pubmed.ncbi.nlm.nih.gov/26346794