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Page 1
Association of BDNF Met66Met polymorphism with arm tremor in cervical dystonia.
Groen JL, Ritz K, Velseboer DC, Aramideh M, van Hilten JJ, Boon AJ, van de Warrenburg BP, Baas F, Tijssen MA. Groen JL, et al. Among authors: boon aj. Mov Disord. 2012 May;27(6):796-7. doi: 10.1002/mds.24922. Epub 2012 Jan 30. Mov Disord. 2012. PMID: 22290778 No abstract available.
Phenotypes and genetic architecture of focal primary torsion dystonia.
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA. Groen JL, et al. Among authors: boon aj. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1006-11. doi: 10.1136/jnnp-2012-302729. Epub 2012 Jul 8. J Neurol Neurosurg Psychiatry. 2012. PMID: 22773857
Cervical dystonia and genetic common variation in the dopamine pathway.
Groen JL, Simón-Sánchez J, Ritz K, Bochdanovits Z, Fang Y, van Hilten JJ, Aramideh M, van de Warrenburg BP, Boon AJ, Baas F, Heutink P, Tijssen MA. Groen JL, et al. Among authors: boon aj. Parkinsonism Relat Disord. 2013 Mar;19(3):346-9. doi: 10.1016/j.parkreldis.2012.08.016. Epub 2012 Sep 14. Parkinsonism Relat Disord. 2013. PMID: 22981186
Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor.
Zoons E, Booij J, Delnooz CCS, Dijk JM, Dreissen YEM, Koelman JHTM, van der Salm SMA, Skorvanek M, Smit M, Aramideh M, Bienfait H, Boon AJW, Brans JWM, Hoogerwaard E, Hovestadt A, Kamphuis DJ, Munts AG, Speelman JD, Tijssen MAJ. Zoons E, et al. J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):579-585. doi: 10.1136/jnnp-2017-317352. Epub 2018 Jan 11. J Neurol Neurosurg Psychiatry. 2018. PMID: 29326295 Clinical Trial.
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
den Heijer JM, Cullen VC, Quadri M, Schmitz A, Hilt DC, Lansbury P, Berendse HW, van de Berg WDJ, de Bie RMA, Boertien JM, Boon AJW, Contarino MF, van Hilten JJ, Hoff JI, van Mierlo T, Munts AG, van der Plas AA, Ponsen MM, Baas F, Majoor-Krakauer D, Bonifati V, van Laar T, Groeneveld GJ. den Heijer JM, et al. Mov Disord. 2020 Sep;35(9):1667-1674. doi: 10.1002/mds.28112. Epub 2020 Jul 2. Mov Disord. 2020. PMID: 32618053 Free PMC article.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: boon ajw. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Elfferich P, Verleun-Mooijman MC, Maat-Kievit JA, van de Warrenburg BP, Abdo WF, Eshuis SA, Leenders KL, Hovestadt A, Zijlmans JC, Stroy JP, van Swieten JC, Boon AJ, van Engelen K, Verschuuren-Bemelmans CC, Lesnik-Oberstein SA, Tassorelli C, Lopiano L, Bonifati V, Dooijes D, van Minkelen R. Elfferich P, et al. Among authors: boon aj. Neurogenetics. 2011 Nov;12(4):263-71. doi: 10.1007/s10048-011-0302-9. Epub 2011 Oct 13. Neurogenetics. 2011. PMID: 21993715 Free PMC article.
Mutations in TMEM230 are not a common cause of Parkinson's disease.
Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ; International Parkinsonism Genetics Network; Lu CS, Bonifati V. Quadri M, et al. Among authors: boon aj. Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. Mov Disord. 2017. PMID: 28090676 No abstract available.
151 results