Primary postoperative chemotherapy without radiotherapy for intracranial ependymoma in children: the UKCCSG/SIOP prospective study

Autor: Grundy, Richard G, Wilne, Sophie A, Weston, Claire L, Robinson, Kath, Lashford, Linda S, Ironside, James, Cox, Tim, Chong, W Kling, Campbell, Richard HA, Bailey, Cliff C, Gattamaneni, Rao, Picton, Sue, Thorpe, Nicky, Mallucci, Conor, English, Martin W, Punt, Jonathan AG, Walker, David A, Ellison, David W, Machin, David

Publikováno v: In Lancet Oncology 2007 8(8):696-705

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Autor: Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, McTague, Amy, Ng, Joanne, Meyer, Esther, Chong, W. Kling, Boyd, Stewart, MacLellan, Linda, Kirkpatrick, Martin, Kurian, Manju A

Publikováno v: Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Tremor and Other Hyperkinetic Movements

Background: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. Case Report: A family with two affected siblings, presenting with multifocal polymyocl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf038184299bc8f31a52fd2587cd069
https://tremorjournal.org/index.php/tremor/article/view/452

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Autor: Mills, Philippa B, Camuzeaux, Stephane S M, Footitt, Emma J, Mills, Kevin A, Gissen, Paul, Fisher, Laura, Das, Krishna B, Varadkar, Sophia M, Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R, Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I, Livingston, John H, Bala, Pronab, Morel, Chantal F, Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W Kling, Pitt, Matthew, Clayton, Peter T

Publikováno v: Mills, P B, Camuzeaux, S S M, Footitt, E J, Mills, K A, Gissen, P, Fisher, L, Das, K B, Varadkar, S M, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, M R, Maier, O, Calvert, S, Riney, K, Wolf, N I, Livingston, J H, Bala, P, Morel, C F, Feillet, F, Raimondi, F, Del Giudice, E, Chong, W K, Pitt, M & Clayton, P T 2014, ' Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome ', Brain, vol. 137, pp. 1350-1360 . https://doi.org/10.1093/brain/awu051
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (5), pp.1350-1360. ⟨10.1093/brain/awu051⟩
Brain, 137, 1350-1360. Oxford University Press

Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills et al. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::32a23f3d512a09839e593e237bb2655f
https://doi.org/10.5167/uzh-94354

Diagnostic algorithm for relapsing demyelinating syndromes of the CNS in children

Autor: Hacohen, Yael, Mankad, Kshitij, Chong, W Kling, Barkhof, Frederik, Vincent, Angela, Lim, Ming, Wassmer, Evangeline, Ciccarelli, Olga, Hemingway, Cheryl

Publikováno v: In The Lancet 23 February 2017 389 Supplement 1:S41-S41

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