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Page 1
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Boot E, et al. Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11. Neurology. 2018. PMID: 29752303 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: boot e. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Among authors: boot e. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Schneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree M, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, Shashi V, Hooper SR, Bearden CE, Jalbrzikowski M, Armando M, Vicari S, Murphy DG, Ousley O, Campbell LE, Simon TJ, Eliez S; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Schneider M, et al. Among authors: boot e. Am J Psychiatry. 2014 Jun;171(6):627-39. doi: 10.1176/appi.ajp.2013.13070864. Am J Psychiatry. 2014. PMID: 24577245 Free PMC article. Review.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Fung WL, et al. Among authors: boot e. Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569435 Free PMC article. Review.
124 results