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Results by year

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

Year Number of Results
1951 1
1952 1
1954 4
1955 1
1956 2
1957 2
1958 1
1959 5
1960 7
1961 6
1962 4
1963 6
1964 6
1965 3
1966 2
1967 3
1968 2
1969 5
1971 4
1972 6
1973 5
1974 5
1975 3
1976 9
1977 1
1978 2
1979 3
1980 7
1981 10
1982 7
1983 4
1984 8
1985 6
1986 5
1987 7
1988 2
1989 12
1990 9
1991 9
1992 7
1993 7
1994 10
1995 9
1996 5
1997 7
1998 5
1999 16
2000 16
2001 11
2002 16
2003 14
2004 21
2005 11
2006 12
2007 18
2008 27
2009 23
2010 27
2011 23
2012 30
2013 33
2014 29
2015 28
2016 30
2017 45
2018 25
2019 36
2020 41
2021 39
2022 40
2023 54
2024 18

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Publication date

Search Results

841 results

Results by year

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Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Among authors: nemeth ah. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: nemeth ah. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Recessive ataxias.
Synofzik M, Németh AH. Synofzik M, et al. Among authors: nemeth ah. Handb Clin Neurol. 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. Handb Clin Neurol. 2018. PMID: 29891078 Review.
Reply.
Korutz AW, Russell EJ, Hijaz TA, Collins JD, Knight BP, Nemeth AJ. Korutz AW, et al. Among authors: nemeth aj. AJNR Am J Neuroradiol. 2018 Feb;39(2):E37. doi: 10.3174/ajnr.A5467. Epub 2017 Oct 26. AJNR Am J Neuroradiol. 2018. PMID: 29074630 Free PMC article. No abstract available.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: nemeth ah. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Pacemakers in MRI for the Neuroradiologist.
Korutz AW, Obajuluwa A, Lester MS, McComb EN, Hijaz TA, Collins JD, Dandamudi S, Knight BP, Nemeth AJ. Korutz AW, et al. Among authors: nemeth aj. AJNR Am J Neuroradiol. 2017 Dec;38(12):2222-2230. doi: 10.3174/ajnr.A5314. Epub 2017 Jul 13. AJNR Am J Neuroradiol. 2017. PMID: 28705821 Free PMC article. Review.
Dynamic regulation of nucleolar architecture.
Németh A, Grummt I. Németh A, et al. Curr Opin Cell Biol. 2018 Jun;52:105-111. doi: 10.1016/j.ceb.2018.02.013. Epub 2018 Mar 9. Curr Opin Cell Biol. 2018. PMID: 29529563 Review.
841 results