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HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.

Riemslagh FW, Lans H, Seelaar H, Severijnen LWFM, Melhem S, Vermeulen W, Aronica E, Pasterkamp RJ, van Swieten JC, Willemsen R.

Acta Neuropathol Commun. 2019 Mar 13;7(1):39. doi: 10.1186/s40478-019-0694-6.


Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.

Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF.

Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7.


Early discharge of premature infants < 37 weeks gestational age with nasogastric tube feeding: the new standard of care?

van Kampen F, de Mol A, Korstanje J, Groof FM, van Meurs-Asseler L, Stas H, Willemsen R, Zwinderman A, Stoelhorst G.

Eur J Pediatr. 2019 Apr;178(4):497-503. doi: 10.1007/s00431-018-03313-4. Epub 2019 Jan 22.


Mixed-meal tolerance test to assess residual beta-cell secretion: Beyond the area-under-curve of plasma C-peptide concentration.

Ruan Y, Willemsen RH, Wilinska ME, Tauschmann M, Dunger DB, Hovorka R.

Pediatr Diabetes. 2019 May;20(3):282-285. doi: 10.1111/pedi.12816. Epub 2019 Feb 19.


Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Nov 1;27(21):3825. doi: 10.1093/hmg/ddy291. No abstract available.


IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis.

Gao Y, de Wit M, Struys EA, van der Linde HCZ, Salomons GS, Lamfers MLM, Willemsen R, Sillevis Smitt PAE, French PJ.

PLoS One. 2018 Jun 28;13(6):e0199737. doi: 10.1371/journal.pone.0199737. eCollection 2018.


Competence of general practitioners in requesting and interpreting ECGs - a case vignette study.

Compiet SAM, Willemsen RTA, Konings KTS, Stoffers HEJH.

Neth Heart J. 2018 Aug;26(7-8):377-384. doi: 10.1007/s12471-018-1124-2.


Frequent Monitoring of C-Peptide Levels in Newly Diagnosed Type 1 Subjects Using Dried Blood Spots Collected at Home.

Willemsen RH, Burling K, Barker P, Ackland F, Dias RP, Edge J, Smith A, Todd J, Lopez B, Mander AP, Guy C, Dunger DB.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3350-3358. doi: 10.1210/jc.2018-00500.


Managing chest pain patients in general practice: an interview-based study.

Biesemans L, Cleef LE, Willemsen RTA, Hoorweg BBN, Renier WS, Buntinx F, Glatz JFC, Dinant GJ.

BMC Fam Pract. 2018 Jun 2;19(1):80. doi: 10.1186/s12875-018-0771-0.


Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.

Zeidler S, Pop AS, Jaafar IA, de Boer H, Buijsen RAM, de Esch CEF, Nieuwenhuizen-Bakker I, Hukema RK, Willemsen R.

Brain Behav. 2018 Jun;8(6):e00991. doi: 10.1002/brb3.991. Epub 2018 Apr 26.


[Fragile X syndrome: new therapeutic strategies].

Zeidler S, Dierckx B, Lubbers K, van Eeghen AM, Lincke CR, Kievit JA, Willemsen R, Rietman A.

Tijdschr Psychiatr. 2018;60(5):338-342. Review. Dutch.


BC RNA Mislocalization in the Fragile X Premutation.

Muslimov IA, Eom T, Iacoangeli A, Chuang SC, Hukema RK, Willemsen R, Stefanov DG, Wong RKS, Tiedge H.

eNeuro. 2018 Apr 19;5(2). pii: ENEURO.0091-18.2018. doi: 10.1523/ENEURO.0091-18.2018. eCollection 2018 Mar-Apr.


Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Jun 15;27(12):2039-2051. doi: 10.1093/hmg/ddy099. Erratum in: Hum Mol Genet. 2018 Nov 1;27(21):3825.


A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

Silva CT, Zorkoltseva IV, Niemeijer MN, van den Berg ME, Amin N, Demirkan A, van Leeuwen E, Iglesias AI, Piñeros-Hernández LB, Restrepo CM, Kors JA, Kirichenko AV, Willemsen R, Oostra BA, Stricker BH, Uitterlinden AG, Axenovich TI, van Duijn CM, Isaacs A.

BMC Med Genomics. 2018 Mar 5;11(1):22. doi: 10.1186/s12920-018-0339-9.


CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA.

Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26.


Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA.

Rehage N, Davydova E, Conrad C, Behrens G, Maiser A, Stehklein JE, Brenner S, Klein J, Jeridi A, Hoffmann A, Lee E, Dianzani U, Willemsen R, Feederle R, Reiche K, Hackermüller J, Leonhardt H, Sharma S, Niessing D, Heissmeyer V.

Nat Commun. 2018 Jan 19;9(1):299. doi: 10.1038/s41467-017-02582-1.


Early health technology assessment of future clinical decision rule aided triage of patients presenting with acute chest pain in primary care.

Willemsen RTA, Kip MMA, Koffijberg H, Kusters R, Buntinx F, Glatz JFC, Dinant GJ; ‘RAPIDA’ – Study Team (‘RAPIDA’: RAPid Test for Investigating Complaints Possibly Due to Acute Coronary Syndrome).

Prim Health Care Res Dev. 2018 Mar;19(2):176-188. doi: 10.1017/S146342361700069X. Epub 2017 Dec 18.


Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Boivin M, Willemsen R, Hukema RK, Sellier C.

Eur J Med Genet. 2018 Nov;61(11):674-679. doi: 10.1016/j.ejmg.2017.11.001. Epub 2017 Dec 6. Review.


Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously.

Zeidler S, de Boer H, Hukema RK, Willemsen R.

Front Mol Neurosci. 2017 Nov 7;10:368. doi: 10.3389/fnmol.2017.00368. eCollection 2017.


Point-of-care testing in primary care patients with acute cardiopulmonary symptoms: a systematic review.

Schols AMR, Stakenborg JPG, Dinant GJ, Willemsen RTA, Cals JWL.

Fam Pract. 2018 Jan 16;35(1):4-12. doi: 10.1093/fampra/cmx066.


Frequency of chest pain in primary care, diagnostic tests performed and final diagnoses.

Hoorweg BB, Willemsen RT, Cleef LE, Boogaerts T, Buntinx F, Glatz JF, Dinant GJ.

Heart. 2017 Nov;103(21):1727-1732. doi: 10.1136/heartjnl-2016-310905. Epub 2017 Jun 20.


Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Castro H, Kul E, Buijsen RAM, Severijnen LWFM, Willemsen R, Hukema RK, Stork O, Santos M.

Hum Mol Genet. 2017 Jun 1;26(11):2133-2145. doi: 10.1093/hmg/ddx108.


New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Springelkamp H, Iglesias AI, Mishra A, Höhn R, Wojciechowski R, Khawaja AP, Nag A, Wang YX, Wang JJ, Cuellar-Partida G, Gibson J, Bailey JN, Vithana EN, Gharahkhani P, Boutin T, Ramdas WD, Zeller T, Luben RN, Yonova-Doing E, Viswanathan AC, Yazar S, Cree AJ, Haines JL, Koh JY, Souzeau E, Wilson JF, Amin N, Müller C, Venturini C, Kearns LS, Kang JH; NEIGHBORHOOD Consortium, Tham YC, Zhou T, van Leeuwen EM, Nickels S, Sanfilippo P, Liao J, van der Linde H, Zhao W, van Koolwijk LM, Zheng L, Rivadeneira F, Baskaran M, van der Lee SJ, Perera S, de Jong PT, Oostra BA, Uitterlinden AG, Fan Q, Hofman A, Tai ES, Vingerling JR, Sim X, Wolfs RC, Teo YY, Lemij HG, Khor CC, Willemsen R, Lackner KJ, Aung T, Jansonius NM, Montgomery G, Wild PS, Young TL, Burdon KP, Hysi PG, Pasquale LR, Wong TY, Klaver CC, Hewitt AW, Jonas JB, Mitchell P, Lotery AJ, Foster PJ, Vitart V, Pfeiffer N, Craig JE, Mackey DA, Hammond CJ, Wiggs JL, Cheng CY, van Duijn CM, MacGregor S.

Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399.


Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RAM, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N.

Neuron. 2017 Jan 18;93(2):331-347. doi: 10.1016/j.neuron.2016.12.016. Epub 2017 Jan 5.


Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice.

Sabanov V, Braat S, D'Andrea L, Willemsen R, Zeidler S, Rooms L, Bagni C, Kooy RF, Balschun D.

Neuropharmacology. 2017 Apr;116:71-81. doi: 10.1016/j.neuropharm.2016.12.010. Epub 2016 Dec 21.


Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LW, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2016 Dec 9;4(1):129. No abstract available.


A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.

Silva CT, Zorkoltseva IV, Amin N, Demirkan A, van Leeuwen EM, Kors JA, van den Berg M, Stricker BH, Uitterlinden AG, Kirichenko AV, Witteman JC, Willemsen R, Oostra BA, Axenovich TI, van Duijn CM, Isaacs A.

Front Genet. 2016 Nov 8;7:190. eCollection 2016.


Tolvaptan use during hyperhydration in paediatric intracranial lymphoma with SIADH.

Willemsen RH, Delgado-Carballar V, Elleri D, Thankamony A, Burke GA, Nicholson JC, Dunger DB.

Endocrinol Diabetes Metab Case Rep. 2016;2016. pii: 16-0066. Epub 2016 Nov 1.


Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.

J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. Epub 2016 Aug 15.


Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.


How do patients with chest pain access Emergency Department care?

Van Severen E, Willemsen R, Vandervoort P, Sabbe M, Dinant GJ, Buntinx F.

Eur J Emerg Med. 2017 Dec;24(6):423-427. doi: 10.1097/MEJ.0000000000000393.


Synaptic vesicle dynamic changes in a model of fragile X.

Broek JAC, Lin Z, de Gruiter HM, van 't Spijker H, Haasdijk ED, Cox D, Ozcan S, van Cappellen GWA, Houtsmuller AB, Willemsen R, de Zeeuw CI, Bahn S.

Mol Autism. 2016 Mar 1;7:17. doi: 10.1186/s13229-016-0080-1. eCollection 2016.


Normal Variation in Pubertal Timing: Genetic Determinants in Relation to Growth and Adiposity.

Willemsen RH, Dunger DB.

Endocr Dev. 2016;29:17-35. doi: 10.1159/000438957. Epub 2015 Dec 17. Review.


Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.

Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK.

Hum Reprod. 2016 Jan;31(1):158-68. doi: 10.1093/humrep/dev280. Epub 2015 Nov 3.


Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval.

Silva CT, Kors JA, Amin N, Dehghan A, Witteman JC, Willemsen R, Oostra BA, van Duijn CM, Isaacs A.

Hum Genet. 2015 Nov;134(11-12):1211-9. doi: 10.1007/s00439-015-1595-9. Epub 2015 Sep 18.


Genes, pathways, and animal models in primary open-angle glaucoma.

Iglesias AI, Springelkamp H, Ramdas WD, Klaver CC, Willemsen R, van Duijn CM.

Eye (Lond). 2015 Oct;29(10):1285-98. doi: 10.1038/eye.2015.160. Epub 2015 Aug 28. Review.


The quest for targeted therapy in fragile X syndrome.

Zeidler S, Hukema RK, Willemsen R.

Expert Opin Ther Targets. 2015;19(10):1277-81. doi: 10.1517/14728222.2015.1079176. Epub 2015 Aug 14. Erratum in: Expert Opin Ther Targets. 2015;19(11):1585.


In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome.

Wang T, de Kok L, Willemsen R, Elgersma Y, Borst JG.

Front Cell Neurosci. 2015 Jul 3;9:234. doi: 10.3389/fncel.2015.00234. eCollection 2015.


Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Hukema RK, Buijsen RA, Schonewille M, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R.

Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216. Epub 2015 Jun 9.


Reproducibility and utility of an overnight 0.25 mg dexamethasone suppression test as a marker for glucocorticoid sensitivity in children with asthma.

Willemsen RH, van Leeuwen L, Voorend-van Bergen TA, de Rijke YB, Pijnenburg MW, van den Akker EL.

J Endocrinol Invest. 2016 Jan;39(1):93-6. doi: 10.1007/s40618-015-0323-6. Epub 2015 Jun 10.


The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.

Braat S, D'Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF.

Cell Cycle. 2015;14(18):2985-95. doi: 10.4161/15384101.2014.989114.


Heart-type fatty acid binding protein (H-FABP) in patients in an emergency department setting, suspected of acute coronary syndrome: optimal cut-off point, diagnostic value and future opportunities in primary care.

Willemsen RT, van Severen E, Vandervoort PM, Grieten L, Buntinx F, Glatz JF, Dinant GJ.

Eur J Gen Pract. 2015;21(3):156-63. doi: 10.3109/13814788.2015.1013934. Epub 2015 Mar 9. Erratum in: Eur J Gen Pract. 2015;21(3):x.


A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA.

EMBO Mol Med. 2015 Apr;7(4):423-37. doi: 10.15252/emmm.201404576.


Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test.

de Esch CE, van den Berg WE, Buijsen RA, Jaafar IA, Nieuwenhuizen-Bakker IM, Gasparini F, Kushner SA, Willemsen R.

Neurobiol Dis. 2015 Mar;75:31-9. doi: 10.1016/j.nbd.2014.12.021. Epub 2015 Jan 3.


A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Hukema RK, Riemslagh FW, Melhem S, van der Linde HC, Severijnen LA, Edbauer D, Maas A, Charlet-Berguerand N, Willemsen R, van Swieten JC.

Acta Neuropathol Commun. 2014 Dec 13;2:166. doi: 10.1186/s40478-014-0166-y. No abstract available. Retraction in: Acta Neuropathol Commun. 2016 Dec 9;4(1):129.


Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.

Hukema RK, Buijsen RA, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Minneboo M, Maas A, de Crom R, Kros JM, Hagerman PJ, Berman RF, Willemsen R.

Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112.


FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.

Buijsen RA, Sellier C, Severijnen LA, Oulad-Abdelghani M, Verhagen RF, Berman RF, Charlet-Berguerand N, Willemsen R, Hukema RK.

Acta Neuropathol Commun. 2014 Nov 26;2:162. doi: 10.1186/s40478-014-0162-2. No abstract available.


[Diagnostic tools for acute coronary syndrome (ACS): a challenge for general practitioners and cardiologists].

Willemsen RT, Kietselaer BL, Kusters R, Buntinx F, Dinant GJ.

Ned Tijdschr Geneeskd. 2014;158:A8078. Review. Dutch.


DAZL limits pluripotency, differentiation, and apoptosis in developing primordial germ cells.

Chen HH, Welling M, Bloch DB, Muñoz J, Mientjes E, Chen X, Tramp C, Wu J, Yabuuchi A, Chou YF, Buecker C, Krainer A, Willemsen R, Heck AJ, Geijsen N.

Stem Cell Reports. 2014 Nov 11;3(5):892-904. doi: 10.1016/j.stemcr.2014.09.003. Epub 2014 Oct 11.


Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.

Wong TH, Verkerk AJ, Rozemuller AJ, Willemsen R, Neumann M, Bonifati V, van Swieten J.

Brain. 2015 Jun;138(Pt 6):e358. doi: 10.1093/brain/awu333. Epub 2014 Nov 19. No abstract available.

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