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Page 1
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia I, Gerondopoulos A, Zaki MS, Ben-Omran T, Almureikhi M, Demir E, Guemez-Gamboa A, Gregor A, Issa MY, Appelhof B, Roosing S, Musaev D, Rosti B, Wirth S, Stanley V, Baas F, Barr FA, Gleeson JG. Marin-Valencia I, et al. Among authors: appelhof b. Am J Hum Genet. 2017 Sep 7;101(3):441-450. doi: 10.1016/j.ajhg.2017.07.015. Epub 2017 Aug 17. Am J Hum Genet. 2017. PMID: 28823706 Free PMC article.
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. Appelhof B, et al. Eur J Hum Genet. 2021 Mar;29(3):411-421. doi: 10.1038/s41431-020-00749-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168985 Free PMC article.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: appelhof b. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.
Esketamine Nasal Spray versus Quetiapine for Treatment-Resistant Depression.
Reif A, Bitter I, Buyze J, Cebulla K, Frey R, Fu DJ, Ito T, Kambarov Y, Llorca PM, Oliveira-Maia AJ, Messer T, Mulhern-Haughey S, Rive B, von Holt C, Young AH, Godinov Y; ESCAPE-TRD Investigators. Reif A, et al. N Engl J Med. 2023 Oct 5;389(14):1298-1309. doi: 10.1056/NEJMoa2304145. N Engl J Med. 2023. PMID: 37792613 Free article. Clinical Trial.
Cost-consequence analysis of an intervention for the management of neuropsychiatric symptoms in young-onset dementia: Results from the BEYOND-II study.
van Duinen-van den IJssel JCL, Bakker C, Smalbrugge M, Zwijsen SA, Adang E, Appelhof B, Zuidema SU, de Vugt ME, Verhey FRJ, Koopmans RTCM. van Duinen-van den IJssel JCL, et al. Among authors: appelhof b. Int J Geriatr Psychiatry. 2020 Jan;35(1):131-137. doi: 10.1002/gps.5229. Epub 2019 Nov 7. Int J Geriatr Psychiatry. 2020. PMID: 31657080 Free PMC article. Clinical Trial.
Effects on staff outcomes from an intervention for management of neuropsychiatric symptoms in residents of young-onset dementia care units: A cluster randomised controlled trial.
van Duinen-van den IJssel JCL, Bakker C, Smalbrugge M, Zwijsen SA, Appelhof B, Teerenstra S, Zuidema SU, de Vugt ME, Verhey FRJ, Koopmans RTCM. van Duinen-van den IJssel JCL, et al. Among authors: appelhof b. Int J Nurs Stud. 2019 Aug;96:35-43. doi: 10.1016/j.ijnurstu.2019.03.006. Epub 2019 Mar 15. Int J Nurs Stud. 2019. PMID: 30979401 Clinical Trial.
Effects of a Multidisciplinary Intervention on the Presence of Neuropsychiatric Symptoms and Psychotropic Drug Use in Nursing Home Residents WithYoung-Onset Dementia: Behavior and Evolution of Young-Onset Dementia Part 2 (BEYOND-II) Study.
Appelhof B, Bakker C, de Vugt ME, van Duinen-van den IJssel JCL, Zwijsen SA, Smalbrugge M, Teerenstra S, Verhey FRJ, Zuidema SU, Koopmans RTCM. Appelhof B, et al. Am J Geriatr Psychiatry. 2019 Jun;27(6):581-589. doi: 10.1016/j.jagp.2018.12.032. Epub 2019 Jan 4. Am J Geriatr Psychiatry. 2019. PMID: 30799167 Clinical Trial.
29 results