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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 19
2008 32
2009 33
2010 31
2011 30
2012 33
2013 41
2014 30
2015 30
2016 32
2017 51
2018 29
2019 43
2020 46
2021 44
2022 43
2023 61
2024 39

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923 results

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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.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Bernkopf M, et al. Among authors: nemeth ah. Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w. Nat Commun. 2023. PMID: 36792598 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.
AI-assisted capsule endoscopy reading in suspected small bowel bleeding: a multicentre prospective study.
Spada C, Piccirelli S, Hassan C, Ferrari C, Toth E, González-Suárez B, Keuchel M, McAlindon M, Finta Á, Rosztóczy A, Dray X, Salvi D, Riccioni ME, Benamouzig R, Chattree A, Humphries A, Saurin JC, Despott EJ, Murino A, Johansson GW, Giordano A, Baltes P, Sidhu R, Szalai M, Helle K, Nemeth A, Nowak T, Lin R, Costamagna G. Spada C, et al. Among authors: nemeth a. Lancet Digit Health. 2024 May;6(5):e345-e353. doi: 10.1016/S2589-7500(24)00048-7. Lancet Digit Health. 2024. PMID: 38670743 Free article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: nemeth ah. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA. Brandsma R, et al. Among authors: nemeth a. Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Eur J Paediatr Neurol. 2019. PMID: 31481303 Review.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: nemeth ah. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380 Free PMC article.
923 results