Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Neil Stoodley"'
Autor:
Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://doaj.org/article/9b32537b1afc4d558b6ef3e1937522ca
Autor:
Stavros Stivaros, Michael Paddock, Azita Rajai, Helen Cliffe, Daniel JA Connolly, Robert A Dineen, Rachel Dixon, Harriet Edwards, Emily Evans, Katherine Halliday, Kandise Jackson, Caren Landes, Adam J Oates, Neil Stoodley, Amaka C Offiah
Publikováno v:
Archives of disease in childhood. 107(6)
Rate and severity of radiological features of physical abuse in children during the first UK-wide COVID-19 enforced national lockdown.ObjectiveTo assess the number, type and outcome of radiological investigations for children presenting to hospital w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::588ba3f5a56955a22f13f241c655c2b4
https://pubmed.ncbi.nlm.nih.gov/35177407
https://pubmed.ncbi.nlm.nih.gov/35177407
Autor:
N. Cary, S. McLaughlin, D. G. Du Plessis, John C Hutchinson, T. Dawson, Paul G. Ince, Colin Smith, L. Palm, Thomas S. Jacques, Susan C. Shelmerdine, Neil Stoodley, R.R. van Rijn, Safa Al-Sarraj, Owen J. Arthurs
Publikováno v:
Neuropathology and applied neurobiology, 44(7), 663-672. Wiley-Blackwell
Aims To develop an expert consensus statement regarding appropriate clinical and forensic post mortem neurological imaging. Methods An expert panel of clinicians were recruited from registered members of the British Neuropathological Society (BNS) an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51340536a46b31ec8ba2d5d72587624c
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044769148&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044769148&origin=inward
Autor:
Maria I. Argyropoulou, Catherine M. Owens, Tim Jaspan, Karen Rosendahl, Taylor Chung, Diego Jaramillo, Peter J. Strouse, Katharine E. Halliday, Sabah Servaes, Catherine Adamsbaum, Maria Raissaki, Amaka C. Offiah, Thomas L. Slovis, Neil Stoodley, Michael J. Callahan, James S. Donaldson, Rick R. van Rijn
Publikováno v:
Pediatric radiology, 47(4), 369-371. Springer Verlag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7183f621dba3b1826f5c25e346f928f6
https://doi.org/10.1007/s00247-017-3808-y
https://doi.org/10.1007/s00247-017-3808-y
Autor:
Férechté Encha-Razavi, Sakkubai Naidu, Tania Attié-Bitach, Daniela T. Pilz, Neil Stoodley, Andrew E. Fry, Heather E. Olson, Jennifer Gardner, Sheila Palmer-Smith, Georgios Niotakis, Thomas D. Cushion, Julie S. Cohen, Hood Mugalaasi, Jonathan G. L. Mullins, Lucile Boutaud, Richard H Scott, Maryse Bonnières, P. Grant
Publikováno v:
Brain Sciences, Vol 8, Iss 8, p 145 (2018)
Brain Sciences
Volume 8
Issue 8
Brain Sciences
Volume 8
Issue 8
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a99d5531c472be35d18eea3cd52882
http://www.mdpi.com/2076-3425/8/8/145
http://www.mdpi.com/2076-3425/8/8/145
Autor:
Alison M. Muir, Hongjie Yuan, Belinda A.N. Thompson, Hirofumi Kusumoto, Ehud Banne, Fabienne Giuliano, Amanda B. Mackenzie, Vardiella Meiner, Chun Hu, Michael Patrick Kerr, Valérie Layet, Kristin M. Knight, Gil Shaulsky, Heledd F. Iago, Hood Mugalaasi, Daniela T. Pilz, Varun Kannan, Lilach Shemer-Meiri, William B. Dobyns, Andrew E. Fry, Nathanel Zelnik, Mark I. Rees, Jin Zhang, Johannes R. Lemke, David Sims, Chirag Patel, Laura H. Kofman, Nadia Bahi-Buisson, Louise A. Brueton, Seo-Kyung Chung, Stephen F. Traynelis, Thomas D. Cushion, Wenjuan Chen, Katherine L. Helbig, Heather C Mefford, Tally Lerman-Sagie, Ghayda M. Mirzaa, Jonathan G. L. Mullins, Neil Stoodley, Katherine A. Fawcett, Sharon A. Swanger
Publikováno v:
Mackenzie, A, Fry, A, Thomposon, B, Fawcett, K, Zelnik, N, Shemer-Meiri, L, cushion, T, Mugalaasi, H & Stoodley, N 2018, ' De novo mutations in GRIN1 cause extensive bilateral polymicrogyria ', Brain : A Journal of Neurology . https://doi.org/10.1093/brain/awx358
Brain
Brain
NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify de novo GRIN1 mutations in eleven patients with severe bilateral polymicrogyria. Polymicrogy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb67bb771886856a19333313ed3281ab
https://purehost.bath.ac.uk/ws/files/160097231/Fry_GRIN1_Main_Text_R1_171017_accepted.pdf
https://purehost.bath.ac.uk/ws/files/160097231/Fry_GRIN1_Main_Text_R1_171017_accepted.pdf
Autor:
Arthur S. Aylsworth, Jonathan G. L. Mullins, Daniela T. Pilz, Gökhan Uyanik, Ute Hehr, Roxana Gunny, Seo-Kyung Chung, Thomas D. Cushion, William B. Dobyns, Prab Prabhakar, Julia Rankin, Andrew E. Fry, Mark I. Rees, Neil Stoodley
Publikováno v:
Brain. 136:536-548
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns. They can be associated with additional structural cerebral anomalies, and recurrent phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ab314c45eea1c68803799d5c606e55
https://doi.org/10.1093/brain/aws338
https://doi.org/10.1093/brain/aws338
Autor:
Stephen P. Robertson, Daniela T. Pilz, Peter D Turnpenny, Neil Stoodley, Andrew E. Fry, Khalid Hamandi, Michael Patrick Kerr, Frances Gibbon
Publikováno v:
The Journal of Neuropsychiatry and Clinical Neurosciences. 25:26-31
Periventricular heterotopia (PH) is a disorder of neuronal migration. Previous clinical reports of PH have largely focused on the seizure-related and neurodevelopmental consequences of this condition. The authors report four unrelated individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e60c240c3093c7fe63b249b60c410d
https://doi.org/10.1176/appi.neuropsych.11110336
https://doi.org/10.1176/appi.neuropsych.11110336
Autor:
Marjo S. van der Knaap, Ming K. Lim, Andrea Whitney, Nigel Osborne, Philip Jardine, Rachel Kneen, Neil Stoodley, Julia Rankin, Sian Ellard, Siddharth Shah
Publikováno v:
Developmental Medicine & Child Neurology. 54:569-574
Aim To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation. Method We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a03f7b99bd5218133c9cc7f540843a7
https://doi.org/10.1111/j.1469-8749.2011.04198.x
https://doi.org/10.1111/j.1469-8749.2011.04198.x
Autor:
Julia Rankin, Philip Jardine, Brendan McLean, Siddharth Shah, Amanda Churchill, Neil Stoodley, Marjo S. van der Knaap, Yadlapalli Kumar, Patrizia Rizzu
Publikováno v:
European Journal of Paediatric Neurology, 14(2), 182-187. W.B. Saunders Ltd
Shah, S, Kumar, Y, McLean, B, Churchill, A, Stoodley, N, Rankin, J, Rizzu, P, van der Knaap, M S & Jardine, P 2010, ' A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly ', European Journal of Paediatric Neurology, vol. 14, no. 2, pp. 182-187 . https://doi.org/10.1016/j.ejpn.2009.04.010
European journal of paediatric neurology : EJPN, 14(2), 182-187. W.B. Saunders Ltd
Shah, S, Kumar, Y, McLean, B, Churchill, A, Stoodley, N, Rankin, J, Rizzu, P, van der Knaap, M S & Jardine, P 2010, ' A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly ', European Journal of Paediatric Neurology, vol. 14, no. 2, pp. 182-187 . https://doi.org/10.1016/j.ejpn.2009.04.010
European journal of paediatric neurology : EJPN, 14(2), 182-187. W.B. Saunders Ltd
We describe a three generation family with recurrent strokes and cataracts. The index case, a 14 year old boy presented with stroke at the age of 14 years and again 6 months later. His mother had long standing episodic headaches diagnosed as migraine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d108b9d4b369042818188c07aa5fd26
https://doi.org/10.1016/j.ejpn.2009.04.010
https://doi.org/10.1016/j.ejpn.2009.04.010