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Page 1
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: van es ma, van spaendonck zwarts ky, van gaalen j, de vries bba, van den berg lh, van de warrenburg bp, de bot st, van de kamp jm. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
SPG10 is a rare cause of spastic paraplegia in European families.
Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L. Schüle R, et al. Among authors: van de warrenburg bp. J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1. J Neurol Neurosurg Psychiatry. 2008. PMID: 18245137 Free article.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: de jonghe p, van de warrenburg bp, van zelst stams wa. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
Vermeer S, Meijer RP, Pijl BJ, Timmermans J, Cruysberg JR, Bos MM, Schelhaas HJ, van de Warrenburg BP, Knoers NV, Scheffer H, Kremer B. Vermeer S, et al. Among authors: van de warrenburg bp. Neurogenetics. 2008 Jul;9(3):207-14. doi: 10.1007/s10048-008-0131-7. Epub 2008 May 9. Neurogenetics. 2008. PMID: 18465152 Free PMC article.
[From psychiatric symptoms to paraneoplastic syndrome].
de Bot ST, Dorresteijn LD, Haaxma CA, Kappelle AC, van de Warrenburg BP. de Bot ST, et al. Among authors: van de warrenburg bp. Tijdschr Psychiatr. 2008;50(9):603-9. Tijdschr Psychiatr. 2008. PMID: 18785107 Free article. Dutch.
Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
Brugman F, Scheffer H, Schelhaas HJ, Nillesen WM, Wokke JH, van de Warrenburg BP, van den Berg LH. Brugman F, et al. Among authors: van den berg lh, van de warrenburg bp. J Neurol. 2009 May;256(5):824-6. doi: 10.1007/s00415-009-5009-6. Epub 2009 Mar 1. J Neurol. 2009. PMID: 19252810 No abstract available.
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot ST, van den Elzen RT, Mensenkamp AR, Schelhaas HJ, Willemsen MA, Knoers NV, Kremer HP, van de Warrenburg BP, Scheffer H. de Bot ST, et al. Among authors: van den elzen rt, van de warrenburg bp. J Neurol Neurosurg Psychiatry. 2010 Oct;81(10):1073-8. doi: 10.1136/jnnp.2009.201103. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562464 Free article.
Child neurology: hereditary spastic paraplegia in children.
de Bot ST, van de Warrenburg BP, Kremer HP, Willemsen MA. de Bot ST, et al. Among authors: van de warrenburg bp. Neurology. 2010 Nov 9;75(19):e75-9. doi: 10.1212/WNL.0b013e3181fc2776. Neurology. 2010. PMID: 21060088 Review. No abstract available.
382 results