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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P. Herdewyn S, et al. Among authors: van den berg lh, van damme p. Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17. Hum Mol Genet. 2012. PMID: 22343411 Free PMC article.
Guidelines for the preclinical in vivo evaluation of pharmacological active drugs for ALS/MND: report on the 142nd ENMC international workshop.
Ludolph AC, Bendotti C, Blaugrund E, Hengerer B, Löffler JP, Martin J, Meininger V, Meyer T, Moussaoui S, Robberecht W, Scott S, Silani V, Van Den Berg LH; ENMC Group for the Establishment of Guidelines for the Conduct of Preclinical and Proof of Concept Studies in ALS/MND Models. Ludolph AC, et al. Among authors: van den berg lh. Amyotroph Lateral Scler. 2007 Aug;8(4):217-23. doi: 10.1080/17482960701292837. Amyotroph Lateral Scler. 2007. PMID: 17653919
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.
van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: van t slot r, van den berg lh, van vught pw, van den bosch l, van broeckhoven c. Lancet Neurol. 2007 Oct;6(10):869-77. doi: 10.1016/S1474-4422(07)70222-3. Lancet Neurol. 2007. PMID: 17827064
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: van t slot r, van den berg lh, van vught pw, van den bosch l, van broeckhoven c. Nat Genet. 2008 Jan;40(1):29-31. doi: 10.1038/ng.2007.52. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084291
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.
Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH. Blauw HM, et al. Among authors: van es ma, van den berg lh, van der zwaag b, van vught pw. Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3. Lancet Neurol. 2008. PMID: 18313986
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, Landers JE, Sapp P, Van Den Bosch L, Knight J, Neale BM, Turner MR, Veldink JH, Ophoff RA, Tripathi VB, Beleza A, Shah MN, Proitsi P, Van Hoecke A, Carmeliet P, Horvitz HR, Leigh PN, Shaw CE, van den Berg LH, Sham PC, Powell JF, Verstreken P, Brown RH Jr, Robberecht W, Al-Chalabi A. Simpson CL, et al. Among authors: van den berg lh, van vught pw, van den bosch l, van hoecke a. Hum Mol Genet. 2009 Feb 1;18(3):472-81. doi: 10.1093/hmg/ddn375. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996918 Free PMC article.
Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.
Brugman F, Veldink JH, Franssen H, de Visser M, de Jong JM, Faber CG, Kremer BH, Schelhaas HJ, van Doorn PA, Verschuuren JJ, Bruyn RP, Kuks JB, Robberecht W, Wokke JH, van den Berg LH. Brugman F, et al. Among authors: van den berg lh, van doorn pa. Arch Neurol. 2009 Apr;66(4):509-14. doi: 10.1001/archneurol.2009.19. Arch Neurol. 2009. PMID: 19364936
679 results