Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Philip E. Jardine"'
Publikováno v:
Journal of Pediatric Neurology. :047-051
Two teenage girls with episodic neuropsychiatric symptoms, altered consciousness, collapse and seizures requiring intensive care admissions are presented. Both were euthyroid at presentation and had markedly elevated anti-thyroperoxidase antibody. Ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd8025906f9dfc1a782c176eeb11d870
https://doi.org/10.1055/s-0035-1557424
https://doi.org/10.1055/s-0035-1557424
Autor:
James Colley, Julian R. Sampson, David Neil Cooper, Daniela T. Pilz, L. P. Lazarou, Alison Kerr, Jytte Bieber Nielsen, John Christodoulou, Kirstine Ravn, Angus John Clarke, Rachel Butler, Sharon D. Whatley, Elizabeth Williams, Jozef Gecz, Michael Wright, Julie Evans, Philip E. Jardine, Hayley Archer
Publikováno v:
European Journal of Human Genetics. 13:1113-1120
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::185fc68c8db830890792e5b9cc0b7003
https://doi.org/10.1038/sj.ejhg.5201451
https://doi.org/10.1038/sj.ejhg.5201451
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 4(4)
A child with macrocephaly-cutis marmorata developed severe abdominal pain thought to represent mesenteric angina. There were abnormalities of the aortic and mesenteric vasculature not previously reported in this condition. Angina therapy afforded ame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48cb3a71723bce87b0435c9b6d96c22a
https://pubmed.ncbi.nlm.nih.gov/11589320
https://pubmed.ncbi.nlm.nih.gov/11589320
Autor:
Peall, Kathryn, Kurian, Manju, Wardle, Mark, Waite, Adrian, Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Lynch, Bryan, Kirov, George, O'Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary, Chinnery, Patrick, Warner, Thomas
Publikováno v:
Journal of Neurology; Dec2014, Vol. 261 Issue 12, p2296-2304, 9p
Autor:
Hacohen, Yael, Absoud, Michael, Woodhall, Mark, Cummins, Carole, De Goede, Christian G., Hemingway, Cheryl, Jardine, Philip E., Kneen, Rachel, Pike, Michael G., Whitehouse, William P., Wassmer, Evangeline, Waters, Patrick, Vincent, Angela, Ming Lim
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Apr2014, Vol. 85 Issue 4, p456-461, 6p, 1 Black and White Photograph, 2 Charts
Autor:
Silveira‐Moriyama, Laura, Gardiner, Alice R, Meyer, Esther, King, Mary D, Smith, Martin, Rakshi, Karl, Parker, Alasdair, Mallick, Andrew A, Brown, Richard, Vassallo, Grace, Jardine, Philip E, Guerreiro, Marilisa M, Lees, Andrew J, Houlden, Henry, Kurian, Manju A
Publikováno v:
Developmental Medicine & Child Neurology; Apr2013, Vol. 55 Issue 4, p327-334, 8p
Publikováno v:
Multiple Sclerosis Journal; Oct2012 Supplement, Vol. 18 Issue 4, p9-542, 534p
Publikováno v:
Multiple Sclerosis Journal; Oct2012 Supplement, Vol. 18 Issue 4, p55-277, 223p
Autor:
Kors, Esther E., Terwindt, Gisela M., Vermeulen, Frans L.M.G., Fitzsimons, Robin B., Jardine, Philip E., Heywood, Peter, Love, Seth, Van Den Maagdenberg, Arn M.J.M., Haan, Joost, Frants, Rune R., Ferrari, Michel D., Kors, E E, Terwindt, G M, Vermeulen, F L, Fitzsimons, R B, Jardine, P E, Heywood, P, Love, S, van den Maagdenberg, A M, Haan, J
Publikováno v:
Annals of Neurology; 2001, Vol. 49 Issue 6, p753-760, 8p
Autor:
Lunt, Peter W., Jardine, Philip E., Koch, Manuela, Maynard, Julia, Osborn, Micheal, Williams, Margaret, Harper, Peter S., Upadhyaya, Meena
Publikováno v:
Muscle & Nerve; 1995, Vol. 18 Issue S13, pS103-S109, 7p