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

Year Number of Results
1984 1
1987 5
1988 1
1991 1
1992 1
1993 1
1995 1
1996 3
1997 3
1998 4
1999 6
2000 7
2001 2
2002 3
2003 2
2004 6
2005 4
2006 5
2007 5
2008 8
2009 7
2010 12
2011 10
2012 18
2013 9
2014 8
2015 13
2016 13
2017 14
2018 9
2019 7
2020 7
2021 12
2022 7
2023 9
2024 7
2025 0

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203 results

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Page 1
Serine Deficiency Disorders.
van der Crabben SN, de Koning TJ. van der Crabben SN, et al. Among authors: de koning tj. 2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Jun 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37347880 Free Books & Documents. Review.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: de koning t. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius J, Kafantari E, Jhaveri E, Gorcenco S, Ameur A, Karremo C, Dobloug S, Karrman K, de Koning T, Ilinca A, Landqvist Waldö M, Arvidsson A, Persson S, Englund E, Ehrencrona H, Puschmann A. Wallenius J, et al. Among authors: de koning t. Am J Hum Genet. 2024 Jan 4;111(1):82-95. doi: 10.1016/j.ajhg.2023.11.008. Epub 2023 Nov 29. Am J Hum Genet. 2024. PMID: 38035881 Free PMC article.
Amino acid synthesis deficiencies.
de Koning TJ. de Koning TJ. J Inherit Metab Dis. 2017 Jul;40(4):609-620. doi: 10.1007/s10545-017-0063-1. Epub 2017 Jun 26. J Inherit Metab Dis. 2017. PMID: 28653176 Free PMC article. Review.
Treatable inherited rare movement disorders.
Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Jinnah HA, et al. Among authors: de koning tj. Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1. Mov Disord. 2018. PMID: 28861905 Free PMC article. Review.
The natural history of progressive myoclonus ataxia.
van der Veen S, Eggink H, Elting JWJ, Sival D, Verschuuren-Bemelmans CC, de Koning TJ, Tijssen MAJ. van der Veen S, et al. Among authors: de koning tj. Neurobiol Dis. 2024 Sep;199:106555. doi: 10.1016/j.nbd.2024.106555. Epub 2024 Jun 4. Neurobiol Dis. 2024. PMID: 38844245 Free article.
Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.
von Scheibler ENMM, van Eeghen AM, de Koning TJ, Kuijf ML, Zinkstok JR, Müller AR, van Amelsvoort TAMJ, Boot E. von Scheibler ENMM, et al. Among authors: de koning tj. Mov Disord Clin Pract. 2022 Oct 31;10(1):17-31. doi: 10.1002/mdc3.13577. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699000 Free PMC article. Review.
Psychiatric manifestations of inborn errors of metabolism: A systematic review.
van de Burgt N, van Doesum W, Grevink M, van Niele S, de Koning T, Leibold N, Martinez-Martinez P, van Amelsvoort T, Cath D. van de Burgt N, et al. Among authors: de koning t. Neurosci Biobehav Rev. 2023 Jan;144:104970. doi: 10.1016/j.neubiorev.2022.104970. Epub 2022 Nov 25. Neurosci Biobehav Rev. 2023. PMID: 36436739 Free article. Review.
203 results