P. Baxter's Profile

Role	Title	Level	Year	L/R
🐜	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection 46 auth. Y. Crow, Y. Crow, A. Leitch, B. Hayward, Anna Garner, R. Parmar, E. Griffith, Manir Ali, C. Semple, J. Aicardi, R. Babul‐Hirji, C. Baumann, P. Baxter, E. Bertini, K. Chandler, ... D. Chitayat, D. Cau, Catherine Déry, E. Fazzi, C. Goizet, M. King, J. Klepper, D. Lacombe, G. Lanzi, H. Lyall, M. Martínez‐Frías, M. Mathieu, C. Mckeown, A. Monier, Y. Oade, O. Quarrell, C. Rittey, R. C. Rogers, A. Sanchis, J. Stephenson, U. Tacke, M. Till, J. Tolmie, P. Tomlin, T. Voit, B. Weschke, C. Woods, P. Lebon, D. Bonthron, C. Ponting, A. Jackson	9	2006	9 🐜
🐜	Mutations in antiquitin in individuals with pyridoxine-dependent seizures 12 auth. P. Mills, E. Struys, C. Jakobs, B. Plecko, P. Baxter, M. Baumgartner, ... M. Willemsen, H. Omran, U. Tacke, B. Uhlenberg, B. Weschke, P. Clayton	9	2006	9 🐜
🐜	Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 46 auth. G. Rice, T. Patrick, R. Parmar, Claire F. Taylor, A. Aeby, J. Aicardi, R. Artuch, S. Montalto, C. Bacino, B. Barroso, P. Baxter, W. S. Benko, C. Bergmann, E. Bertini, R. Biancheri, ... E. Blair, N. Blau, D. Bonthron, T. Briggs, L. Brueton, H. Brunner, C. J. Burke, I. Carr, D. Carvalho, K. Chandler, Hans-jÜrgen Christen, S. D'Arrigo, C. Laet, C. Praeter, Catherine Déry, K. Flintoff, C. Goizet, F. Goutières, A. Guët, Amy Kao, J. Klepper, Charles M Lourenço, Daphna Marom, R. Mcwilliam, L. Mewasingh, M. Moutard, K. Nischal, John R. Østergaard, D. Soler, R. Spiegel, S. Orcesi	8	2007	8 🐜
🐜	Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus 64 auth. Beverley H Anderson, P. Kasher, Joséphine Mayer, M. Szynkiewicz, E. Jenkinson, S. Bhaskar, J. Urquhart, Sarah B. Daly, Jonathan E. Dickerson, J. O’Sullivan, E. O. Leibundgut, J. Muter, Ghada M H Abdel-Salem, R. Babul‐Hirji, P. Baxter, ... A. Berger, L. Bonafė, Janice E Brunstom-Hernandez, Johannes A Buckard, D. Chitayat, W. Chong, D. Cordelli, P. Ferreira, J. Fluss, E. Forrest, E. Franzoni, C. Garone, S. Hammans, G. Houge, I. Hughes, S. Jacquemont, P. Jeannet, R. Jefferson, Ram Kumar, G. Kutschke, S. Lundberg, Charles M Lourenço, R. Mehta, S. Naidu, K. Nischal, L. Nunes, K. Õunap, M. Philippart, P. Prabhakar, Sarah R. Risen, R. Schiffmann, C. Soh, J. Stephenson, H. Stewart, J. Stone, J. Tolmie, M. Knaap, J. P. Vieira, C. Vilain, E. Wakeling, V. Wermenbol, A. Whitney, S. Lovell, S. Meyer, J. Livingston, G. Baerlocher, G. Black, G. Rice, Y. Crow	8	2012	8 🐜
🐜	Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) 23 auth. Philippa B. Mills, E. Footitt, Kevin A. Mills, K. Tuschl, S. Aylett, S. Varadkar, C. Hemingway, N. Marlow, J. Rennie, P. Baxter, ... O. Dulac, R. Nabbout, W. Craigen, B. Schmitt, F. Feillet, E. Christensen, P. de Lonlay, Mike G. Pike, M. Imelda Hughes, E. Struys, C. Jakobs, S. Zuberi, Patrick Clayton	7	2010	7 🐜
🐜	Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 64 auth. A. Foley, M. Menezes, M. Menezes, A. Pandraud, Michael A. Gonzalez, Ahmad Al-Odaib, Ahmad Al-Odaib, Alexander J Abrams, Kumiko Sugano, A. Yonezawa, A. Manzur, J. Burns, J. Burns, I. Hughes, B. McCullagh, ... H. Jungbluth, H. Jungbluth, H. Jungbluth, M. Lim, Jean-Pierre Lin, A. Mégarbané, J. Urtizberea, A. H. Shah, J. Antony, R. Webster, A. Broomfield, J. Ng, A. Mathew, J. O’Byrne, E. Forman, M. Scoto, M. Prasad, K. O'Brien, S. Olpin, Marcus Oppenheim, I. Hargreaves, J. Land, Min Wang, K. Carpenter, R. Horvath, V. Straub, M. Lek, W. Gold, W. Gold, M. Farrell, S. Brandner, R. Phadke, R. Phadke, K. Matsubara, M. McGarvey, S. Scherer, P. Baxter, M. King, P. Clayton, S. Rahman, S. Rahman, M. Reilly, R. Ouvrier, R. Ouvrier, J. Christodoulou, J. Christodoulou, S. Züchner, F. Muntoni, H. Houlden	7	2013	7 🐜
🦁	Pyridoxine‐dependent and pyridoxine‐responsive seizures P. Baxter	7	2001	7 🦁
🦁	Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK P. Baxter	7	1999	7 🦁
🦁	PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT P. Baxter, P. Griffiths, T. Kelly, D. Gardner‐medwin	6	1996	6 🦁
🐜	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) 24 auth. T. Briggs, G. Abdel-Salam, Martha Balicki, P. Baxter, E. Bertini, N. Bishop, B. Browne, D. Chitayat, W. Chong, M. Eid, ... W. Halliday, I. Hughes, A. Klusmann-Koy, M. Kurian, K. Nischal, G. Rice, J. Stephenson, R. Surtees, J. Talbot, N. N. Tehrani, J. Tolmie, C. Toomes, M. Knaap, Y. Crow	6	2008	6 🐜
🐜	Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status 7 auth. P. Baxter, Antonia Clarke, H. Cross, B. Harding, E. Hicks, J. Livingston, ... R. Surtees	6	2003	6 🐜