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136 results

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Page 1
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: schelhaas hj. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876
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: schelhaas hj. 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: schelhaas hj. Nat Genet. 2008 Jan;40(1):29-31. doi: 10.1038/ng.2007.52. Epub 2007 Dec 16. Nat Genet. 2008. PMID: 18084291
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.
van Es MA, Diekstra FP, Veldink JH, Baas F, Bourque PR, Schelhaas HJ, Strengman E, Hennekam EA, Lindhout D, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: schelhaas hj. Neurology. 2009 Jan 20;72(3):287-8. doi: 10.1212/01.wnl.0000339487.84908.00. Neurology. 2009. PMID: 19153377 Free article. No abstract available.
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: schelhaas hj. Arch Neurol. 2009 Apr;66(4):509-14. doi: 10.1001/archneurol.2009.19. Arch Neurol. 2009. PMID: 19364936
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH. van Es MA, et al. Among authors: schelhaas hj. Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6. Nat Genet. 2009. PMID: 19734901
Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.
Piepers S, Veldink JH, de Jong SW, van der Tweel I, van der Pol WL, Uijtendaal EV, Schelhaas HJ, Scheffer H, de Visser M, de Jong JM, Wokke JH, Groeneveld GJ, van den Berg LH. Piepers S, et al. Among authors: schelhaas hj. Ann Neurol. 2009 Aug;66(2):227-34. doi: 10.1002/ana.21620. Ann Neurol. 2009. PMID: 19743466 Clinical Trial.
136 results