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

Year Number of Results
1949 1
1950 2
1951 1
1952 2
1953 2
1956 2
1957 1
1959 3
1964 1
1967 1
1969 1
1971 1
1974 1
1978 1
1984 1
1985 1
1987 1
1989 1
1992 3
1994 1
1995 3
1996 2
1997 2
1998 2
1999 1
2000 1
2001 2
2002 2
2003 4
2004 7
2005 1
2006 8
2007 11
2008 7
2009 8
2010 11
2011 5
2012 6
2013 12
2014 9
2015 23
2016 13
2017 11
2018 9
2019 4
2020 5
2021 12
2022 4
2023 2
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Search Results

194 results
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Page 1
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Among authors: mcmahon jm. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS. Howell KB, et al. Among authors: mcmahon jm. Epilepsia. 2021 Feb;62(2):358-370. doi: 10.1111/epi.16810. Epub 2021 Jan 21. Epilepsia. 2021. PMID: 33475165
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: mcmahon jm. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708187 Free PMC article.
Time-of-Year Variation in Intraocular Pressure.
Morettin CE, Roberts DK, Newman TL, Yang Y, McMahon JM, Roberts MF, Teitelbaum BA, Winters JE. Morettin CE, et al. Among authors: mcmahon jm. J Glaucoma. 2021 Nov 1;30(11):952-962. doi: 10.1097/IJG.0000000000001930. J Glaucoma. 2021. PMID: 34402464 Free PMC article.
Organic SIMS of biologic tissue.
Todd PJ, McMahon JM, Short RT, McCandlish CA. Todd PJ, et al. Among authors: mcmahon jm. Anal Chem. 1997 Sep 1;69(17):529A-535A. doi: 10.1021/ac971763g. Anal Chem. 1997. PMID: 9286157 Review. No abstract available.
Mortality in Dravet syndrome.
Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE. Cooper MS, et al. Among authors: mcmahon jm. Epilepsy Res. 2016 Dec;128:43-47. doi: 10.1016/j.eplepsyres.2016.10.006. Epub 2016 Oct 26. Epilepsy Res. 2016. PMID: 27810515
ADGRV1 is implicated in myoclonic epilepsy.
Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE. Myers KA, et al. Among authors: mcmahon jm. Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20. Epilepsia. 2018. PMID: 29266188
194 results