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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 3
2001 5
2002 2
2003 4
2004 1
2007 1
2008 3
2009 5
2010 10
2011 12
2012 8
2013 7
2014 9
2015 9
2016 8
2017 5
2018 8
2019 12
2020 14
2021 13
2022 8
2023 5
2024 0

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126 results

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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: wassmer e. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
E.U. paediatric MOG consortium consensus: Part 5 - Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Bruijstens AL, Wendel EM, Lechner C, Bartels F, Finke C, Breu M, Flet-Berliac L, de Chalus A, Adamsbaum C, Capobianco M, Laetitia G, Hacohen Y, Hemingway C, Wassmer E, Lim M, Baumann M, Wickström R, Armangue T, Rostasy K, Deiva K, Neuteboom RF. Bruijstens AL, et al. Among authors: wassmer e. Eur J Paediatr Neurol. 2020 Nov;29:41-53. doi: 10.1016/j.ejpn.2020.10.005. Epub 2020 Nov 4. Eur J Paediatr Neurol. 2020. PMID: 33176999 Free article. Review.
E.U. paediatric MOG consortium consensus: Part 1 - Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Bruijstens AL, Lechner C, Flet-Berliac L, Deiva K, Neuteboom RF, Hemingway C, Wassmer E; E.U. paediatric MOG consortium; Baumann M, Bartels F, Finke C, Adamsbaum C, Hacohen Y, Rostasy K. Bruijstens AL, et al. Among authors: wassmer e. Eur J Paediatr Neurol. 2020 Nov;29:2-13. doi: 10.1016/j.ejpn.2020.10.006. Epub 2020 Nov 4. Eur J Paediatr Neurol. 2020. PMID: 33162302 Free article. Review.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: wassmer e. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Pediatric optic neuritis.
Yeh EA, Graves JS, Benson LA, Wassmer E, Waldman A. Yeh EA, et al. Among authors: wassmer e. Neurology. 2016 Aug 30;87(9 Suppl 2):S53-8. doi: 10.1212/WNL.0000000000002822. Neurology. 2016. PMID: 27572862 Free PMC article. Review.
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, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Among authors: wassmer e. 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.
International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions.
Krupp LB, Tardieu M, Amato MP, Banwell B, Chitnis T, Dale RC, Ghezzi A, Hintzen R, Kornberg A, Pohl D, Rostasy K, Tenembaum S, Wassmer E; International Pediatric Multiple Sclerosis Study Group. Krupp LB, et al. Among authors: wassmer e. Mult Scler. 2013 Sep;19(10):1261-7. doi: 10.1177/1352458513484547. Epub 2013 Apr 9. Mult Scler. 2013. PMID: 23572237
Wilson disease in children and adolescents.
Fernando M, van Mourik I, Wassmer E, Kelly D. Fernando M, et al. Among authors: wassmer e. Arch Dis Child. 2020 May;105(5):499-505. doi: 10.1136/archdischild-2018-315705. Epub 2020 Jan 23. Arch Dis Child. 2020. PMID: 31974298 Review.
Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Alburaiky S, Dale RC, Crow YJ, Jones HF, Wassmer E, Melki I, Boespflug-Tanguy O, Do Cao J, Gras D, Sharpe C. Alburaiky S, et al. Among authors: wassmer e. Dev Med Child Neurol. 2021 Dec;63(12):1483-1486. doi: 10.1111/dmcn.14969. Epub 2021 Jun 21. Dev Med Child Neurol. 2021. PMID: 34155623 Free article.
126 results