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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

255 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium; Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: willemsen ma. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176823 Free PMC article.
GLUT1 deficiency syndrome into adulthood: a follow-up study.
Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Leen WG, et al. Among authors: willemsen ma. J Neurol. 2014 Mar;261(3):589-99. doi: 10.1007/s00415-014-7240-z. Epub 2014 Jan 12. J Neurol. 2014. PMID: 24413642 Review.
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ. van de Warrenburg BP, et al. Among authors: willemsen ma. Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165006 Free PMC article.
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: willemsen ma. Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10. Mov Disord. 2017. PMID: 28186668 Free article.
Dystonia in childhood: Rising networks.
Willemsen MA. Willemsen MA. Eur J Paediatr Neurol. 2018 Mar;22(2):219-220. doi: 10.1016/j.ejpn.2018.01.020. Eur J Paediatr Neurol. 2018. PMID: 29447766 No abstract available.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: willemsen ma. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
255 results