Zobrazeno 1 - 10
of 31
pro vyhledávání: '"P Ian Andrews"'
Autor:
Jingya Yan, Kavitha Kothur, Shekeeb Mohammad, Jason Chung, Shrujna Patel, Hannah F. Jones, Brooke A. Keating, Velda X. Han, Richard Webster, Simone Ardern-Holmes, Jayne Antony, Manoj P. Menezes, Esther Tantsis, Deepak Gill, Sachin Gupta, Tejaswi Kandula, Hugo Sampaio, Michelle A. Farrar, Christopher Troedson, P Ian Andrews, Sekhar C. Pillai, Benjamin Heng, Gilles J. Guillemin, Anna Guller, Sushil Bandodkar, Russell C. Dale
Publikováno v:
EBioMedicine, Vol 91, Iss , Pp 104589- (2023)
Summary: Background: Defining the presence of acute and chronic brain inflammation remains a challenge to clinicians due to the heterogeneity of clinical presentations and aetiologies. However, defining the presence of neuroinflammation, and monitori
Externí odkaz:
https://doaj.org/article/f3f98b36f0cb49b9aa7418bacef1fbf5
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2
Autor:
Florence Ngu, Michael Cardamone, Dylan Wanaguru, Bruce Currie, Eva Alina Wegner, Ian Andrews, Walter Haindl
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 59, Iss , Pp 101494- (2020)
Thymectomy is part of a multimodal treatment strategy for juvenile myasthenia gravis. Symptoms that persist following thymectomy may be due to residual or ectopic thymic tissue. We report the use of FDG PET/CT to locate residual thymic tissue followi
Externí odkaz:
https://doaj.org/article/58993770597e4bf2932ba9771bd9500b
Autor:
Romain C. Briest, Andrew K. Cheung, Tejaswi Kandula, Michael Cardamone, Sekhar C. Pillai, Hugo Sampaio, Hooi‐Ling Teoh, Richard I. Webster, Jason D. Wenderoth, P. Ian Andrews
Publikováno v:
Developmental Medicine & Child Neurology. 65:126-135
To improve delivery of acute therapies for acute ischaemic stroke (AIS).We identified factors influencing the speed of diagnosis and delivery of acute therapies in a prospective cohort of 21 children with suspected AIS (eight with AIS, 13 stroke mimi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f192267cfdb5e5ea5b26f7ed9ef6e89
https://doi.org/10.1111/dmcn.15285
https://doi.org/10.1111/dmcn.15285
Autor:
Paul Edgar Gray, Bella Shadur, Susan Russell, Richard Mitchell, Michael Buckley, Kerri Gallagher, Ian Andrews, Kevin Thia, Joseph A. Trapani, Edwin Philip Kirk, Ilia Voskoboinik
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
Bi-allelic null mutations affecting UNC13D, STXBP2, or STX11 result in defects of lymphocyte cytotoxic degranulation and commonly cause familial hemophagocytic lymphohistiocytosis (FHL) in early life. Patients with partial loss of function are increa
Externí odkaz:
https://doaj.org/article/9b1fec07a2704ab881fd21c60040f714
Publikováno v:
Developmental Medicine & Child Neurology. 62:1221-1223
Endovascular clot retrieval (ECR) is an emerging therapy for treatment of acute ischaemic stroke (AIS) in adults, including basilar artery occlusion (BAO). Its role in children is not well established. We report four consecutive children with AIS due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc091e4c5e114c19a79b23c79674777
https://doi.org/10.1111/dmcn.14449
https://doi.org/10.1111/dmcn.14449
Publikováno v:
Journal of Clinical Neuroscience. 16:1-11
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction. The defects interfere with presynaptic, synaptic, or postsynaptic function and compromise neuromuscular transmissio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d320b58b3d11fcd97a2255b176a0ff59
https://doi.org/10.1016/j.jocn.2008.05.001
https://doi.org/10.1016/j.jocn.2008.05.001
Autor:
Fengxiang Wang, Xun Xu, Lisa G. Riley, David R. Thorburn, Andrew G. Engel, Jinlong Liang, Xuanzhu Liu, Yulan Shen, Lifeng Tian, Brendan J. Keating, Yiran Guo, John Christodoulou, Richard Webster, Minal Menezes, Nigel F. Clarke, P. Ian Andrews, Hakon Hakonarson, Dong Li, Manoj P. Menezes
Clinical phenotypes of congenital myasthenic syndromes and primary mitochondrial disorders share significant overlap in their clinical presentations, leading to challenges in making the correct diagnosis. Next generation sequencing is transforming mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4708709357fa39461b84902f266e860f
https://europepmc.org/articles/PMC5642298/
https://europepmc.org/articles/PMC5642298/
Autor:
P. Ian Andrews
Publikováno v:
Seminars in Neurology. 24:101-110
The recent identification of an autoimmune process targeting muscle-specific kinase (MuSK) in a subset of seronegative patients with autoimmune myasthenia gravis promises to improve diagnostic accuracy and redirect therapy in at least some seronegati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bcfb8adfedf5610c77570501d9c500
https://doi.org/10.1055/s-2004-829591
https://doi.org/10.1055/s-2004-829591
Publikováno v:
Journal of Paediatrics and Child Health. 46:125-127
Most cases of facial nerve paresis are idiopathic (Bell's palsy). However, rare and potentially dangerous conditions may present in this manner. We report 2 children presenting with unilateral lower motor neuron facial nerve palsy and hypertension. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d817959f7ef0a78e75e7fb4c2c35371e
https://doi.org/10.1111/j.1440-1754.2009.01650.x
https://doi.org/10.1111/j.1440-1754.2009.01650.x