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

Year Number of Results
1977 2
1978 1
1980 1
1982 1
1983 2
1984 3
1985 4
1986 4
1987 7
1988 6
1989 3
1990 4
1991 5
1992 13
1993 9
1994 9
1995 12
1996 6
1997 13
1998 16
1999 19
2000 23
2001 12
2002 14
2003 16
2004 20
2005 16
2006 22
2007 16
2008 16
2009 25
2010 26
2011 18
2012 21
2013 20
2014 19
2015 18
2016 22
2017 20
2018 24
2019 14
2020 18
2021 14
2022 14
2023 11
2024 16
2025 8
2026 1

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545 results

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Page 1
SERAC1 Deficiency.
Wortmann SB, de Brouwer APM, Wevers RA, Morava E. Wortmann SB, et al. Among authors: wevers ra. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Apr 17 [updated 2020 Jul 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24741715 Free Books & Documents. Review.
CLPB Deficiency.
Wortmann SB, Wevers RA. Wortmann SB, et al. Among authors: wevers ra. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 27891836 Free Books & Documents. Review.
Squalene Synthase Deficiency.
Coman D, Vissers L, Waterham H, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Among authors: wevers ra. 2020 Feb 6. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2020 Feb 6. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 32027475 Free Books & Documents. Review.
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB.
D'Angelo D, Sánchez-Vázquez VH, Cartes-Saavedra B, Vecellio Reane D, Cupo RR, Delgado de la Herran H, Ghirardo G, Shorter J, Wevers RA, Wortmann SB, Perocchi F, Rizzuto R, Raffaello A, Hajnóczky G. D'Angelo D, et al. Among authors: wevers ra. Nat Commun. 2025 Mar 21;16(1):2810. doi: 10.1038/s41467-025-57641-9. Nat Commun. 2025. PMID: 40118824 Free PMC article.
Movement disorders in cerebrotendinous xanthomatosis.
Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Stelten BML, et al. Among authors: wevers ra. Parkinsonism Relat Disord. 2019 Jan;58:12-16. doi: 10.1016/j.parkreldis.2018.07.006. Epub 2018 Jul 19. Parkinsonism Relat Disord. 2019. PMID: 30054180 Review.
Lactate and its many faces.
Taher M, Leen WG, Wevers RA, Willemsen MA. Taher M, et al. Among authors: wevers ra. Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Eur J Paediatr Neurol. 2016. PMID: 26481417 Review.
Neurometabolic disorders: Five new things.
Willemsen MA, Harting I, Wevers RA. Willemsen MA, et al. Among authors: wevers ra. Neurol Clin Pract. 2016 Aug;6(4):348-357. doi: 10.1212/CPJ.0000000000000266. Neurol Clin Pract. 2016. PMID: 29443118 Free PMC article. Review.
Think big - think omics.
Wevers RA, Blau N. Wevers RA, et al. J Inherit Metab Dis. 2018 May;41(3):281-283. doi: 10.1007/s10545-018-0165-4. J Inherit Metab Dis. 2018. PMID: 29541953 No abstract available.
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. Among authors: wevers ra. J Intern Med. 2021 Nov;290(5):1039-1047. doi: 10.1111/joim.13277. Epub 2021 Apr 8. J Intern Med. 2021. PMID: 33830582 Free article.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: wevers ra. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608 Free PMC article.
545 results