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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: lim mj. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
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, V… See abstract for full author list ➔ Rice G, et al. Among authors: lim mj. 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.
Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features.
Absoud M, Lim MJ, Chong WK, De Goede CG, Foster K, Gunny R, Hemingway C, Jardine PE, Kneen R, Likeman M, Nischal KK, Pike MG, Sibtain NA, Whitehouse WP, Cummins C, Wassmer E; UK and Ireland Childhood CNS Inflammatory Demyelination Working Group. Absoud M, et al. Among authors: lim mj. Mult Scler. 2013 Jan;19(1):76-86. doi: 10.1177/1352458512445944. Epub 2012 Apr 19. Mult Scler. 2013. PMID: 22516794 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. 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: lim mj. Mult Scler. 2011 Oct;17(10):1258-61. doi: 10.1177/1352458510382554. Epub 2010 Sep 27. Mult Scler. 2011. PMID: 20876155
E.U. paediatric MOG consortium consensus: Part 4 - Outcome of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Bruijstens AL, Breu M, Wendel EM, Wassmer E, Lim M, Neuteboom RF, Wickström R; E.U. paediatric MOG consortium; Baumann M, Bartels F, Finke C, Adamsbaum C, Hacohen Y, Rostasy K. Bruijstens AL, et al. Eur J Paediatr Neurol. 2020 Nov;29:32-40. doi: 10.1016/j.ejpn.2020.10.007. Epub 2020 Nov 4. Eur J Paediatr Neurol. 2020. PMID: 33183945 Free article. Review.
304 results