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Items: 30

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.

Eur J Hum Genet. 2019 Sep 5. doi: 10.1038/s41431-019-0497-z. [Epub ahead of print]

PMID:
31488895
2.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Aug 2. pii: clinchem.2019.305391. doi: 10.1373/clinchem.2019.305391. [Epub ahead of print]

PMID:
31375477
3.

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140. No abstract available.

PMID:
31157359
4.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC.

J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376.

PMID:
31127727
5.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

6.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

7.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2016 Oct;24(10):1460-6. doi: 10.1038/ejhg.2016.42. Epub 2016 May 11. Erratum in: Eur J Hum Genet. 2017 Feb;25(3):393-0.

8.

Heterogeneous responses and cross reactivity between the major peanut allergens Ara h 1, 2,3 and 6 in a mouse model for peanut allergy.

Smit JJ, Pennings MT, Willemsen K, van Roest M, van Hoffen E, Pieters RH.

Clin Transl Allergy. 2015 Mar 23;5:13. doi: 10.1186/s13601-015-0056-9. eCollection 2015.

9.

Prediction scores or gastroenterologists' Gut Feeling for triaging patients that present with acute upper gastrointestinal bleeding.

de Groot N, van Oijen M, Kessels K, Hemmink M, Weusten B, Timmer R, Hazen W, van Lelyveld N, Vermeijden Jr, Curvers W, Baak L, Verburg R, Bosman J, de Wijkerslooth L, de Rooij J, Venneman N, Pennings M, van Hee K, Scheffer R, van Eijk R, Meiland R, Siersema P, Bredenoord A.

United European Gastroenterol J. 2014 Jun;2(3):197-205. doi: 10.1177/2050640614531574.

10.

Optimisation of lupus anticoagulant tests: should test samples always be mixed with normal plasma?

Pennings MT, De Groot PG, Meijers JC, Huisman A, Derksen RH, Urbanus RT.

Thromb Haemost. 2014 Oct;112(4):736-42. doi: 10.1160/TH14-02-0122. Epub 2014 Jul 10.

PMID:
25008787
11.

Reassessment of the predictive value of the Forrest classification for peptic ulcer rebleeding and mortality: can classification be simplified?

de Groot NL, van Oijen MG, Kessels K, Hemmink M, Weusten BL, Timmer R, Hazen WL, van Lelyveld N, Vermeijden RR, Curvers WL, Baak BC, Verburg R, Bosman JH, de Wijkerslooth LR, de Rooij J, Venneman NG, Pennings M, van Hee K, Scheffer BC, van Eijk RL, Meiland R, Siersema PD, Bredenoord AJ.

Endoscopy. 2014 Jan;46(1):46-52. doi: 10.1055/s-0033-1344884. Epub 2013 Nov 11.

PMID:
24218308
12.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

13.

Acute-phase concentrations of soluble fibrinogen inhibit neutrophil adhesion under flow conditions in vitro through interactions with ICAM-1 and MAC-1 (CD11b/CD18).

Pillay J, Kamp VM, Pennings M, Oudijk EJ, Leenen LP, Ulfman LH, Koenderman L.

J Thromb Haemost. 2013 Jun;11(6):1172-82. doi: 10.1111/jth.12250.

14.

Contribution of classic and alternative effector pathways in peanut-induced anaphylactic responses.

Smit JJ, Willemsen K, Hassing I, Fiechter D, Storm G, van Bloois L, Leusen JH, Pennings M, Zaiss D, Pieters RH.

PLoS One. 2011;6(12):e28917. doi: 10.1371/journal.pone.0028917. Epub 2011 Dec 14.

15.

Hypocholesterolemia, foam cell accumulation, but no atherosclerosis in mice lacking ABC-transporter A1 and scavenger receptor BI.

Zhao Y, Pennings M, Vrins CL, Calpe-Berdiel L, Hoekstra M, Kruijt JK, Ottenhoff R, Hildebrand RB, van der Sluis R, Jessup W, Le Goff W, Chapman MJ, Huby T, Groen AK, Van Berkel TJ, Van Eck M.

Atherosclerosis. 2011 Oct;218(2):314-22. doi: 10.1016/j.atherosclerosis.2011.07.096. Epub 2011 Jul 27.

16.

Apolipoprotein E receptor 2 is involved in the thrombotic complications in a murine model of the antiphospholipid syndrome.

Romay-Penabad Z, Aguilar-Valenzuela R, Urbanus RT, Derksen RH, Pennings MT, Papalardo E, Shilagard T, Vargas G, Hwang Y, de Groot PG, Pierangeli SS.

Blood. 2011 Jan 27;117(4):1408-14. doi: 10.1182/blood-2010-07-299099. Epub 2010 Nov 30.

17.

Enhanced foam cell formation, atherosclerotic lesion development, and inflammation by combined deletion of ABCA1 and SR-BI in Bone marrow-derived cells in LDL receptor knockout mice on western-type diet.

Zhao Y, Pennings M, Hildebrand RB, Ye D, Calpe-Berdiel L, Out R, Kjerrulf M, Hurt-Camejo E, Groen AK, Hoekstra M, Jessup W, Chimini G, Van Berkel TJ, Van Eck M.

Circ Res. 2010 Dec 10;107(12):e20-31. doi: 10.1161/CIRCRESAHA.110.226282. Epub 2010 Nov 11.

PMID:
21071707
18.

Transgenic expression of VEGF in intestinal epithelium drives mesenchymal cell interactions and epithelial neoplasia.

Boquoi A, Jover R, Chen T, Pennings M, Enders GH.

Gastroenterology. 2009 Feb;136(2):596-606.e4. doi: 10.1053/j.gastro.2008.10.028. Epub 2008 Nov 1.

19.

Platelet activation by dimeric beta2-glycoprotein I requires signaling via both glycoprotein Ibalpha and apolipoprotein E receptor 2'.

Urbanus RT, Pennings MT, Derksen RH, de Groot PG.

J Thromb Haemost. 2008 Aug;6(8):1405-12. doi: 10.1111/j.1538-7836.2008.03021.x. Epub 2008 May 15.

20.

Bone marrow-derived multidrug resistance protein ABCB4 protects against atherosclerotic lesion development in LDL receptor knockout mice.

Pennings M, Hildebrand RB, Ye D, Kunne C, Van Berkel TJ, Groen AK, Van Eck M.

Cardiovasc Res. 2007 Oct 1;76(1):175-83. Epub 2007 May 17.

PMID:
17560559
21.

Platelets express three different splice variants of ApoER2 that are all involved in signaling.

Pennings MT, Derksen RH, Urbanus RT, Tekelenburg WL, Hemrika W, de Groot PG.

J Thromb Haemost. 2007 Jul;5(7):1538-44. Epub 2007 Apr 27.

22.

Platelet adhesion to dimeric beta-glycoprotein I under conditions of flow is mediated by at least two receptors: glycoprotein Ibalpha and apolipoprotein E receptor 2'.

Pennings MT, Derksen RH, van Lummel M, Adelmeijer J, VanHoorelbeke K, Urbanus RT, Lisman T, de Groot PG.

J Thromb Haemost. 2007 Feb;5(2):369-77. Epub 2006 Nov 10.

23.

Regulation of cholesterol homeostasis in macrophages and consequences for atherosclerotic lesion development.

Pennings M, Meurs I, Ye D, Out R, Hoekstra M, Van Berkel TJ, Van Eck M.

FEBS Lett. 2006 Oct 9;580(23):5588-96. Epub 2006 Aug 23. Review.

24.

Interaction of beta2-glycoprotein I with members of the low density lipoprotein receptor family.

Pennings MT, van Lummel M, Derksen RH, Urbanus RT, Romijn RA, Lenting PJ, de Groot PG.

J Thromb Haemost. 2006 Aug;4(8):1680-90.

25.

Pathogenic anti-beta2-glycoprotein I antibodies recognize domain I of beta2-glycoprotein I only after a conformational change.

de Laat B, Derksen RH, van Lummel M, Pennings MT, de Groot PG.

Blood. 2006 Mar 1;107(5):1916-24. Epub 2005 Nov 3.

26.

The binding site in {beta}2-glycoprotein I for ApoER2' on platelets is located in domain V.

van Lummel M, Pennings MT, Derksen RH, Urbanus RT, Lutters BC, Kaldenhoven N, de Groot PG.

J Biol Chem. 2005 Nov 4;280(44):36729-36. Epub 2005 Aug 9.

27.

Scavenger receptor BI and ATP-binding cassette transporter A1 in reverse cholesterol transport and atherosclerosis.

Van Eck M, Pennings M, Hoekstra M, Out R, Van Berkel TJ.

Curr Opin Lipidol. 2005 Jun;16(3):307-15. Review.

PMID:
15891392
28.

Beta2-glycoprotein I and LDL-receptor family members.

de Groot PG, van Lummel M, Pennings M, Urbanus R, Bas de Laat H, Lenting PJ, Derksen RH.

Thromb Res. 2004;114(5-6):455-9. Review.

PMID:
15507278
29.

Auditory hallucinations: a comparison between patients and nonpatients.

Honig A, Romme MA, Ensink BJ, Escher SD, Pennings MH, deVries MW.

J Nerv Ment Dis. 1998 Oct;186(10):646-51.

PMID:
9788642
30.

The lipopolysaccharide biosynthesis locus of Campylobacter jejuni 81116.

Fry BN, Korolik V, ten Brinke JA, Pennings MT, Zalm R, Teunis BJ, Coloe PJ, van der Zeijst BA.

Microbiology. 1998 Aug;144 ( Pt 8):2049-61.

PMID:
9720026

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