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Year Number of Results
1993 1
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1998 4
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2000 7
2001 2
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2003 2
2004 4
2005 4
2006 4
2007 5
2008 6
2009 5
2010 10
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163 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; 1993–2024. 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; 1993–2024. PMID: 37347880 Free Books & Documents. Review.
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.
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.
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.
Amino acid synthesis deficiencies.
de Koning TJ. de Koning TJ. Handb Clin Neurol. 2013;113:1775-83. doi: 10.1016/B978-0-444-59565-2.00047-2. Handb Clin Neurol. 2013. PMID: 23622400 Review.
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.
Developmental neurobiology of cerebellar and Basal Ganglia connections.
Sival DA, Noort SAMV, Tijssen MAJ, de Koning TJ, Verbeek DS. Sival DA, et al. Among authors: de koning tj. Eur J Paediatr Neurol. 2022 Jan;36:123-129. doi: 10.1016/j.ejpn.2021.12.001. Epub 2021 Dec 7. Eur J Paediatr Neurol. 2022. PMID: 34954622 Free article. Review.
Treatment of ARS deficiencies with specific amino acids.
Kok G, Tseng L, Schene IF, Dijsselhof ME, Salomons G, Mendes MI, Smith DEC, Wiedemann A, Canton M, Feillet F, de Koning TJ, Boothe M, Dean J, Kassel R, Ferreira EA, van den Born M, Nieuwenhuis EES, Rehmann H, Terheggen-Lagro SWJ, van Karnebeek CDM, Fuchs SA. Kok G, et al. Among authors: de koning tj. Genet Med. 2021 Nov;23(11):2202-2207. doi: 10.1038/s41436-021-01249-z. Epub 2021 Jun 30. Genet Med. 2021. PMID: 34194004 Free PMC article.
Neurometabolic disorders are treatable causes of dystonia.
Kuiper A, Eggink H, Tijssen MA, de Koning TJ. Kuiper A, et al. Among authors: de koning tj. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):455-464. doi: 10.1016/j.neurol.2016.07.011. Epub 2016 Aug 22. Rev Neurol (Paris). 2016. PMID: 27561437 Review.
163 results