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

204 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Scheper GC, et al. Among authors: van coster r, van der klok t, van berkel cg, van andel rj, van der knaap ms. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC. van der Knaap MS, et al. Among authors: van coster r, van berkel cg. Am J Hum Genet. 2003 Nov;73(5):1199-207. doi: 10.1086/379524. Epub 2003 Oct 17. Am J Hum Genet. 2003. PMID: 14566705 Free PMC article.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: van kempen m, van coster r. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. Simons C, et al. Among authors: van coster r, van der knaap ms. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582646 Free PMC article.
MRI findings in a neonate with cerebellar agenesis.
Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG. Van Coster RN, et al. Pediatr Neurol. 1998 Aug;19(2):139-42. doi: 10.1016/s0887-8994(98)00023-x. Pediatr Neurol. 1998. PMID: 9744635
Limbic encephalitis as presentation of a SAP deficiency.
Verhelst H, Van Coster R, Bockaert N, Laureys G, Latour S, Fischer A, Haerynck F. Verhelst H, et al. Among authors: van coster r. Neurology. 2007 Jul 10;69(2):218-9. doi: 10.1212/01.wnl.0000265597.56202.6c. Neurology. 2007. PMID: 17620557 No abstract available.
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. Van Maldergem L, et al. Among authors: van coster r. Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078310 Free PMC article.
204 results