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Year Number of Results
1987 1
1989 1
1993 2
1994 3
1995 3
1996 2
1997 5
1998 2
1999 5
2000 4
2001 4
2002 4
2004 5
2005 6
2006 4
2007 7
2008 4
2009 4
2010 7
2011 1
2012 7
2013 3
2014 12
2015 6
2016 4
2017 1
2018 1
2019 3
2021 1
2022 2
2025 2

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108 results

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Page 1
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: ferrie cd. 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.
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: ferrie cd. 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.
Epileptic encephalopathy.
Specchio N, Trivisano M, Scott RC, Ferrie C. Specchio N, et al. Among authors: ferrie c. Epilepsy Res Treat. 2012;2012:460256. doi: 10.1155/2012/460256. Epub 2012 Dec 31. Epilepsy Res Treat. 2012. PMID: 23346392 Free PMC article. No abstract available.
Ferrie and Combes reply.
Ferrie C, Combes J. Ferrie C, et al. Phys Rev Lett. 2015 Mar 20;114(11):118902. doi: 10.1103/PhysRevLett.114.118902. Epub 2015 Mar 18. Phys Rev Lett. 2015. PMID: 25839318 No abstract available.
Video-game epilepsy.
Ferrie CD, Robinson RO, Giannakodimos S, Panayiotopoulos CP. Ferrie CD, et al. Lancet. 1994 Dec 17;344(8938):1710-1. Lancet. 1994. PMID: 7996991 No abstract available.
Panayiotopoulos syndrome: a consensus view.
Ferrie C, Caraballo R, Covanis A, Demirbilek V, Dervent A, Kivity S, Koutroumanidis M, Martinovic Z, Oguni H, Verrotti A, Vigevano F, Watanabe K, Yalcin D, Yoshinaga H. Ferrie C, et al. Dev Med Child Neurol. 2006 Mar;48(3):236-40. doi: 10.1017/S0012162206000508. Dev Med Child Neurol. 2006. PMID: 16483404 Free article. Review.
Treatment of Lennox-Gastaut Syndrome (LGS).
Ferrie CD, Patel A. Ferrie CD, et al. Eur J Paediatr Neurol. 2009 Nov;13(6):493-504. doi: 10.1016/j.ejpn.2008.12.005. Epub 2009 Feb 10. Eur J Paediatr Neurol. 2009. PMID: 19211283 Review.
Video game induced seizures.
Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP. Ferrie CD, et al. J Neurol Neurosurg Psychiatry. 1994 Aug;57(8):925-31. doi: 10.1136/jnnp.57.8.925. J Neurol Neurosurg Psychiatry. 1994. PMID: 8057115 Free PMC article. Review.
108 results