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Page 1
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.
van Strien TW, van Rootselaar AF, Hilgevoord AA, Linssen WH, Groffen AJ, Tijssen MA. van Strien TW, et al. Among authors: groffen aj. Parkinsonism Relat Disord. 2012 Jun;18(5):645-8. doi: 10.1016/j.parkreldis.2012.03.006. Epub 2012 Mar 30. Parkinsonism Relat Disord. 2012. PMID: 22464846 Free article.
δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.
van Rootselaar AF, Groffen AJ, de Vries B, Callenbach PMC, Santen GWE, Koelewijn S, Vijfhuizen LS, Buijink A, Tijssen MAJ, van den Maagdenberg AMJM. van Rootselaar AF, et al. Among authors: groffen aj. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10. Neurology. 2017. PMID: 29127138
Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter release.
Groffen AJ, Martens S, Díez Arazola R, Cornelisse LN, Lozovaya N, de Jong AP, Goriounova NA, Habets RL, Takai Y, Borst JG, Brose N, McMahon HT, Verhage M. Groffen AJ, et al. Science. 2010 Mar 26;327(5973):1614-8. doi: 10.1126/science.1183765. Epub 2010 Feb 11. Science. 2010. PMID: 20150444 Free PMC article.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: groffen aj. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: groffen aj. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Among authors: groffen aj. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differences.
Giniatullina A, Maroteaux G, Geerts CJ, Koopmans B, Loos M, Klaassen R, Chen N, van der Schors RC, van Nierop P, Li KW, de Jong J, Altrock WD, Cornelisse LN, Toonen RF, van der Sluis S, Sullivan PF, Stiedl O, Posthuma D, Smit AB, Groffen AJ, Verhage M. Giniatullina A, et al. Among authors: groffen aj. Neuroscience. 2015 Aug 6;300:518-38. doi: 10.1016/j.neuroscience.2015.05.047. Epub 2015 Jun 1. Neuroscience. 2015. PMID: 26045179
44 results