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Items: 1 to 50 of 436

1.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

2.

The purchase sources of and price paid for cigarettes in six European countries: Findings from the EUREST-PLUS ITC Europe Surveys.

Demjén T, Kiss J, Kovács PA, Mons U, Kahnert S, Driezen P, Kyriakos CN, Zatoński M, Przewoźniak K, Fu M, Fernández E, McNeill A, Willemsen M, Tountas Y, Trofor AC, Fong GT, Vardavas CI; EUREST-PLUS consortium.

Tob Induc Dis. 2019 Mar 26;16:A16. doi: 10.18332/tid/100413. eCollection 2018.

3.

Characterising smokers of menthol and flavoured cigarettes, their attitudes towards tobacco regulation, and the anticipated impact of the Tobacco Products Directive on their smoking and quitting behaviours: The EUREST-PLUS ITC Europe Surveys.

Zatoński M, Herbeć A, Zatoński W, Przewoźniak K, Janik-Koncewicz K, Mons U, Fong GT, Demjén T, Tountas Y, Trofor AC, Fernández E, McNeil A, Willemsen M, Hummel K, Quah ACK, Kyriakos CN, Vardavas CI; EUREST-PLUS consortium.

Tob Induc Dis. 2018 Dec 14;16:A4. doi: 10.18332/tid/96294. eCollection 2018.

4.

The Conceptual Model and Methods of Wave 1 (2016) of the EUREST-PLUS ITC 6 European Countries Survey.

Fong GT, Thompson ME, Boudreau C, Bécuwe N, Driezen P, Agar TK, Quah ACK, Zatoński WA, Przewoźniak K, Mons U, Demjén T, Tountas Y, Trofor AC, Fernández E, McNeill A, Willemsen M, Vardavas CI; EUREST-PLUS consortium.

Tob Induc Dis. 2018 Dec 12;16:A3. doi: 10.18332/tid/99881. eCollection 2018.

5.

Study Protocol of European Regulatory Science on Tobacco (EUREST-PLUS): Policy implementation to reduce lung disease.

Vardavas CI, Bécuwe N, Demjén T, Fernández E, McNeill A, Mons U, Tountas Y, Trofor AC, Tsatsakis A, Rohde G, Willemsen M, Przewozniak K, Zatonski WA, Fong GT; EUREST-PLUS consortium.

Tob Induc Dis. 2018 Aug 21;16:A2. doi: 10.18332/tid/93305. eCollection 2018.

6.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Aug 10. pii: S1090-3798(19)30027-3. doi: 10.1016/j.ejpn.2019.08.004. [Epub ahead of print]

PMID:
31481303
7.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

PMID:
31422819
8.

Did E-Cigarette Users Notice the New European Union's E-Cigarette Legislation? Findings from the 2015-2017 International Tobacco Control (ITC) Netherlands Survey.

van Mourik DA, Nagelhout GE, van den Putte B, Hummel K, Willemsen MC, de Vries H.

Int J Environ Res Public Health. 2019 Aug 14;16(16). pii: E2917. doi: 10.3390/ijerph16162917.

9.

An increase in the tobacco age-of-sale to 21: for debate in Europe.

Nuyts PAW, Kuipers MAG, Willemsen MC, Kunst AE.

Nicotine Tob Res. 2019 Aug 13. pii: ntz135. doi: 10.1093/ntr/ntz135. [Epub ahead of print]

PMID:
31408159
10.

The Ketogenic Diet and Its Effect on Bone Mineral Density: A Retrospective Observational Cohort Study.

Draaisma JMT, Hampsink BM, Janssen M, van Houdt NBM, Linders ETAM, Willemsen MA.

Neuropediatrics. 2019 Aug 9. doi: 10.1055/s-0039-1693059. [Epub ahead of print]

PMID:
31398763
11.

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 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2.

PMID:
31375477
12.

Dynamic, data-driven typologies of long-term smoking, cessation, and their correlates: Findings from the International Tobacco Control (ITC) Netherlands Survey.

Lima Passos V, Crutzen R, Feder JT, Willemsen MC, Lemmens P, Hummel K.

Soc Sci Med. 2019 Aug;235:112393. doi: 10.1016/j.socscimed.2019.112393. Epub 2019 Jul 4.

PMID:
31302376
13.

Policies that limit youth access and exposure to tobacco: a scientific neglect of the first stages of the policy process.

Kuijpers TG, Kunst AE, Willemsen MC.

BMC Public Health. 2019 Jun 26;19(1):825. doi: 10.1186/s12889-019-7073-x.

14.

Skin-resident memory T cells as a potential new therapeutic target in vitiligo and melanoma.

Willemsen M, Linkutė R, Luiten RM, Matos TR.

Pigment Cell Melanoma Res. 2019 Sep;32(5):612-622. doi: 10.1111/pcmr.12803. Epub 2019 Jul 8. Review.

PMID:
31230406
15.

Who calls the shots in tobacco control policy? Policy monopolies of pro and anti-tobacco interest groups across six European countries.

Kuijpers TG, Kunst AE, Willemsen MC.

BMC Public Health. 2019 Jun 21;19(1):800. doi: 10.1186/s12889-019-7158-6.

16.

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T.

Ophthalmol Retina. 2019 Jun;3(6):500-509. doi: 10.1016/j.oret.2019.01.023. Epub 2019 Feb 7.

PMID:
31174672
17.

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
18.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.

J Inherit Metab Dis. 2019 Sep;42(5):984-992. doi: 10.1002/jimd.12095. Epub 2019 Apr 23.

PMID:
30931530
19.

NLRC4 inflammasomopathy with spondyloarthritis and a complete response to TNF inhibition.

Willemsen M, Abdul-Hamid M, Schoonbrood THM.

J Allergy Clin Immunol Pract. 2019 Sep - Oct;7(7):2443-2446.e2. doi: 10.1016/j.jaip.2019.03.028. Epub 2019 Mar 28. No abstract available.

PMID:
30930271
20.

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Bekker YAC, Lambrechts DA, Verhoeven JS, van Boxtel J, Troost C, Kamsteeg EJ, Willemsen MA, Braakman HMH.

Eur J Paediatr Neurol. 2019 May;23(3):404-409. doi: 10.1016/j.ejpn.2019.02.012. Epub 2019 Feb 27.

PMID:
30885501
21.

Cannabis use among a nationally representative cross-sectional sample of smokers and non-smokers in the Netherlands: results from the 2015 ITC Netherlands Gold Magic Survey.

Fix BV, Smith D, O'Connor R, Heckman BW, Willemsen MC, Cummings M, Fong G.

BMJ Open. 2019 Mar 3;9(3):E024497. doi: 10.1136/bmjopen-2018-024497.

22.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP.

J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28.

PMID:
30819809
23.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

van Egmond ME, Contarino MF, Lugtenberg CHA, Peall KJ, Brouwer OF, Fung VSC, Roze E, Stewart RE, Willemsen MA, Wolf NI, de Koning TJ, Tijssen MA.

Mov Disord. 2019 Mar;34(3):317-320. doi: 10.1002/mds.27627. Epub 2019 Feb 6. No abstract available.

PMID:
30726575
24.

Prevalence of awareness, ever-use and current use of nicotine vaping products (NVPs) among adult current smokers and ex-smokers in 14 countries with differing regulations on sales and marketing of NVPs: cross-sectional findings from the ITC Project.

Gravely S, Driezen P, Ouimet J, Quah ACK, Cummings KM, Thompson ME, Boudreau C, Hammond D, McNeill A, Borland R, Thrasher JF, Edwards R, Omar M, Hitchman SC, Yong HH, Barrientos-Gutierrez T, Willemsen MC, Bianco E, Boado M, Goma FM, Seo HG, Nargis N, Jiang Y, Perez CA, Fong GT.

Addiction. 2019 Jun;114(6):1060-1073. doi: 10.1111/add.14558. Epub 2019 Feb 20.

25.

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM.

Metabolites. 2019 Jan 11;9(1). pii: E12. doi: 10.3390/metabo9010012.

26.

Expression of cancer/testis antigens in cutaneous melanoma: a systematic review.

Tio D, Kasiem FR, Willemsen M, van Doorn R, van der Werf N, Hoekzema R, Luiten RM, Bekkenk MW.

Melanoma Res. 2019 Aug;29(4):349-357. doi: 10.1097/CMR.0000000000000569.

PMID:
30615012
27.

Extracapsular extension in the positive sentinel lymph node: a marker of poor prognosis in cT1-2N0 breast cancer patients?

Vane MLG, Willemsen MA, van Roozendaal LM, van Kuijk SMJ, Kooreman LFS, Siesling S, de Wilt HHW, Smidt ML.

Breast Cancer Res Treat. 2019 Apr;174(3):711-718. doi: 10.1007/s10549-018-05074-y. Epub 2019 Jan 4.

PMID:
30610488
28.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

Staps P, de Groot IJM, van Gerven MHJC, Willemsen MAAP.

Neuropediatrics. 2019 Apr;50(2):89-95. doi: 10.1055/s-0038-1676854. Epub 2019 Jan 4.

PMID:
30609437
29.

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE.

Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394.

30.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE, Nicolai J, Schoots J, Teunissen MWA, Rouhl RPW, Tan IY, Yntema HG, Brunner HG, Pfundt R, Stegmann AP, Kamsteeg EJ, Schelhaas HJ, Willemsen MH.

Epilepsia. 2019 Jan;60(1):155-164. doi: 10.1111/epi.14618. Epub 2018 Dec 7.

PMID:
30525188
31.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30.

PMID:
30504431
32.

Failing Transmission.

Willemsen MA.

Neuropediatrics. 2019 Feb;50(1):1. doi: 10.1055/s-0038-1675559. Epub 2018 Oct 29.

PMID:
30372765
33.

Visibility of tobacco products and advertisement at the point of sale: a systematic audit of retailers in Amsterdam.

Nuyts PAW, Kuipers MAG, Cakir A, Willemsen MC, Veldhuizen EM, Kunst AE.

BMJ Open. 2018 Oct 8;8(10):e022017. doi: 10.1136/bmjopen-2018-022017.

34.

Explaining mechanisms that influence smoke-free implementation at the local level: A realist review of smoking bans.

Mlinaric M, Hoffmann L, Kunst AE, Schreuders M, Willemsen MC, Moor I, Richter M.

Nicotine Tob Res. 2018 Oct 4. doi: 10.1093/ntr/nty206. [Epub ahead of print]

PMID:
30285126
35.

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP.

Eur J Paediatr Neurol. 2018 Nov;22(6):1110-1117. doi: 10.1016/j.ejpn.2018.07.012. Epub 2018 Aug 15. Review.

PMID:
30194039
36.

How can a ban on tobacco sales to minors be effective in changing smoking behaviour among youth? - A realist review.

Nuyts PAW, Kuijpers TG, Willemsen MC, Kunst AE.

Prev Med. 2018 Oct;115:61-67. doi: 10.1016/j.ypmed.2018.08.013. Epub 2018 Aug 23. Review.

37.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA.

Eur J Paediatr Neurol. 2018 Sep;22(5):866-869. doi: 10.1016/j.ejpn.2018.06.005. Epub 2018 Jun 25.

PMID:
29970281
38.

Support for a point-of-sale cigarette display ban among smokers: findings from the international tobacco control (ITC) Netherlands survey.

van Mourik DA, Candel MJJM, Nagelhout GE, Willemsen MC, Fong GT, Hummel K, van den Putte B, de Vries H.

BMC Public Health. 2018 Jun 15;18(1):740. doi: 10.1186/s12889-018-5666-4.

39.

Study protocol of the randomised placebo-controlled GLOBE trial: GLP-1 for bridging of hyperglycaemia during cardiac surgery.

Hulst AH, Visscher MJ, Godfried MB, Thiel B, Gerritse BM, Scohy TV, Bouwman RA, Willemsen MGA, Hollmann MW, DeVries JH, Preckel B, Hermanides J.

BMJ Open. 2018 Jun 4;8(6):e022189. doi: 10.1136/bmjopen-2018-022189.

40.

Public support for tobacco control policies: The role of the protection of children against tobacco.

Kuijpers TG, Willemsen MC, Kunst AE.

Health Policy. 2018 Aug;122(8):929-935. doi: 10.1016/j.healthpol.2018.05.004. Epub 2018 May 26.

PMID:
29859650
41.

Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome.

Verhoeven W, Egger J, Räkers E, van Erkelens A, Pfundt R, Willemsen MH.

Neuropsychiatr Dis Treat. 2018 Mar 27;14:867-870. doi: 10.2147/NDT.S153511. eCollection 2018.

42.

Does free or lower cost smoking cessation medication stimulate quitting? Findings from the International Tobacco Control (ITC) Netherlands and UK Surveys.

van den Brand FA, Nagelhout GE, Hummel K, Willemsen MC, McNeill A, van Schayck OCP.

Tob Control. 2019 May;28(Suppl 1):s61-s67. doi: 10.1136/tobaccocontrol-2017-054023. Epub 2018 Apr 4.

43.

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Braakman HM, Verhoeven JS, Erasmus CE, Haaxma CA, Willemsen MH, Schelhaas HJ.

Epilepsia Open. 2017 May 16;2(3):343-344. doi: 10.1002/epi4.12059. eCollection 2017 Sep.

44.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF.

J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22.

45.

Behavioral Economic Purchase Tasks to Estimate Demand for Novel Nicotine/tobacco Products and Prospectively Predict Future Use: Evidence From The Netherlands.

Heckman BW, Cummings KM, Nahas GJ, Willemsen MC, O'Connor RJ, Borland R, Hirsch AA, Bickel WK, Carpenter MJ.

Nicotine Tob Res. 2019 May 21;21(6):784-791. doi: 10.1093/ntr/nty042.

46.

Dystonia in childhood: Rising networks.

Willemsen MA.

Eur J Paediatr Neurol. 2018 Mar;22(2):219-220. doi: 10.1016/j.ejpn.2018.01.020. No abstract available.

PMID:
29447766
47.

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.

van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM.

Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225.

PMID:
29393965
48.

Mutational heterogeneity of angioimmunoblastic T-cell lymphoma indicates distinct lymphomagenic pathways.

Willemsen M, Abdul Hamid M, Winkens B, Zur Hausen A.

Blood Cancer J. 2018 Jan 17;8(1):6. doi: 10.1038/s41408-017-0047-2. Review. No abstract available.

49.

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.

Li X, Poschmann S, Chen Q, Fazeli W, Oundjian NJ, Snoeijen-Schouwenaars FM, Fricke O, Kamsteeg EJ, Willemsen M, Wang QK.

Eur J Hum Genet. 2018 Feb;26(2):220-229. doi: 10.1038/s41431-017-0073-3. Epub 2018 Jan 12.

50.

A longitudinal study into the reciprocal effects of identities and smoking behaviour: Findings from the ITC Netherlands Survey.

Meijer E, Van den Putte B, Gebhardt WA, Van Laar C, Bakk Z, Dijkstra A, Fong GT, West R, Willemsen MC.

Soc Sci Med. 2018 Mar;200:249-257. doi: 10.1016/j.socscimed.2017.12.006. Epub 2018 Jan 8.

PMID:
29321102

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