Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

40 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.
van Rappard DF, Boelens JJ, van Egmond ME, Kuball J, van Hasselt PM, Oostrom KJ, Pouwels PJ, van der Knaap MS, Hollak CE, Wolf NI. van Rappard DF, et al. Among authors: van hasselt pm, van egmond me, van der knaap ms. Blood. 2016 Jun 16;127(24):3098-101. doi: 10.1182/blood-2016-03-708479. Epub 2016 Apr 26. Blood. 2016. PMID: 27118454 Free article. No abstract available.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ. van Egmond ME, et al. Among authors: van der hout ah, van hilten jj. Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186668 Free article.
Spasticity, dyskinesia and ataxia in cerebral palsy: Are we sure we can differentiate them?
Eggink H, Kremer D, Brouwer OF, Contarino MF, van Egmond ME, Elema A, Folmer K, van Hoorn JF, van de Pol LA, Roelfsema V, Tijssen MAJ. Eggink H, et al. Among authors: van hoorn jf, van de pol la, van egmond me. Eur J Paediatr Neurol. 2017 Sep;21(5):703-706. doi: 10.1016/j.ejpn.2017.04.1333. Epub 2017 May 9. Eur J Paediatr Neurol. 2017. PMID: 28549726
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Steel D, Zech M, Zhao C, Barwick KES, Burke D, Demailly D, Kumar KR, Zorzi G, Nardocci N, Kaiyrzhanov R, Wagner M, Iuso A, Berutti R, Škorvánek M, Necpál J, Davis R, Wiethoff S, Mankad K, Sudhakar S, Ferrini A, Sharma S, Kamsteeg EJ, Tijssen MA, Verschuuren C, van Egmond ME, Flowers JM, McEntagart M, Tucci A, Coubes P, Bustos BI, Gonzalez-Latapi P, Tisch S, Darveniza P, Gorman KM, Peall KJ, Bötzel K, Koch JC, Kmieć T, Plecko B, Boesch S, Haslinger B, Jech R, Garavaglia B, Wood N, Houlden H, Gissen P, Lubbe SJ, Sue CM, Cif L, Mencacci NE, Anderson G, Kurian MA, Winkelmann J; Genomics England Research Consortium. Steel D, et al. Among authors: van egmond me. Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21. Ann Neurol. 2020. PMID: 32808683
A novel diagnostic approach to patients with myoclonus.
Zutt R, van Egmond ME, Elting JW, van Laar PJ, Brouwer OF, Sival DA, Kremer HP, de Koning TJ, Tijssen MA. Zutt R, et al. Among authors: van laar pj, van egmond me. Nat Rev Neurol. 2015 Dec;11(12):687-97. doi: 10.1038/nrneurol.2015.198. Epub 2015 Nov 10. Nat Rev Neurol. 2015. PMID: 26553594 Review.
40 results