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Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS,… See abstract for full author list ➔ Rice G, et al. Among authors: wassmer e. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Childhood optic neuritis clinical features and outcome.
Absoud M, Cummins C, Desai N, Gika A, McSweeney N, Munot P, Hemingway C, Lim M, Nischal KK, Wassmer E. Absoud M, et al. Among authors: wassmer e. Arch Dis Child. 2011 Sep;96(9):860-2. doi: 10.1136/adc.2009.175422. Epub 2010 Jun 16. Arch Dis Child. 2011. PMID: 20554767
Severe acute disseminated encephalomyelitis: a paediatric intensive care population-based study.
Absoud M, Parslow RC, Wassmer E, Hemingway C, Duncan HP, Cummins C, Lim MJ; UK & Ireland Childhood CNS Inflammatory Demyelination Working Group and the the Paediatric Intensive Care Audit Network. Absoud M, et al. Among authors: wassmer e. Mult Scler. 2011 Oct;17(10):1258-61. doi: 10.1177/1352458510382554. Epub 2010 Sep 27. Mult Scler. 2011. PMID: 20876155
Paediatric UK demyelinating disease longitudinal study (PUDDLS).
Absoud M, Cummins C, Chong WK, De Goede C, Foster K, Gunny R, Hemingway C, Jardine P, Kneen R, Likeman M, Lim MJ, Pike M, Sibtain N, Whitehouse WP, Wassmer E. Absoud M, et al. Among authors: wassmer e. BMC Pediatr. 2011 Jul 28;11:68. doi: 10.1186/1471-2431-11-68. BMC Pediatr. 2011. PMID: 21798048 Free PMC article.
145 results