Bozaoglu K - Search Results

1

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Gao Y, Wilson GR, Stephenson SEM, Oulad-Abdelghani M, Charlet-Berguerand N, Bozaoglu K, McLean CA, Thomas PQ, Finkelstein DI, Lockhart PJ. Gao Y, et al. Among authors: bozaoglu k. Mol Brain. 2020 Mar 30;13(1):52. doi: 10.1186/s13041-020-00584-7. Mol Brain. 2020. PMID: 32228644 Free PMC article.

2

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Gao Y, Wilson GR, Stephenson SEM, Bozaoglu K, Farrer MJ, Lockhart PJ. Gao Y, et al. Among authors: bozaoglu k. Mov Disord. 2018 Feb;33(2):196-207. doi: 10.1002/mds.27270. Epub 2018 Jan 9. Mov Disord. 2018. PMID: 29315801 Review.

3

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Gao Y, Wilson GR, Bozaoglu K, Elefanty AG, Stanley EG, Dottori M, Lockhart PJ. Gao Y, et al. Among authors: bozaoglu k. Stem Cell Res. 2018 Apr;28:161-164. doi: 10.1016/j.scr.2018.02.015. Epub 2018 Feb 21. Stem Cell Res. 2018. PMID: 29499499 Free article.

4

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

Vlahos K, Sourris K, Mayberry R, McDonald P, Bruveris FF, Schiesser JV, Bozaoglu K, Lockhart PJ, Stanley EG, Elefanty AG. Vlahos K, et al. Among authors: bozaoglu k. Stem Cell Res. 2019 Jan;34:101380. doi: 10.1016/j.scr.2018.101380. Epub 2018 Dec 27. Stem Cell Res. 2019. PMID: 30605840 Free article.

5

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Bozaoglu K, Gao Y, Stanley E, Fanjul-Fernández M, Brown NJ, Pope K, Green CC, Vlahos K, Sourris K, Bahlo M, Delatycki M, Scheffer I, Lockhart PJ. Bozaoglu K, et al. Stem Cell Res. 2019 Aug;39:101516. doi: 10.1016/j.scr.2019.101516. Epub 2019 Aug 1. Stem Cell Res. 2019. PMID: 31415975 Free article.

6

Generation of four iPSC lines from Neurofibromatosis Type 1 patients.

Bozaoglu K, Shern Lee W, Haebich KM, North KN, Payne JM, Lockhart PJ. Bozaoglu K, et al. Stem Cell Res. 2020 Dec;49:102013. doi: 10.1016/j.scr.2020.102013. Epub 2020 Oct 1. Stem Cell Res. 2020. PMID: 33091851 Free article.

7

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Fanjul-Fernández M, Brown NJ, Hickey P, Diakumis P, Rafehi H, Bozaoglu K, Green CC, Rattray A, Young S, Alhuzaimi D, Mountford HS, Gillies G, Lukic V, Vick T, Finlay K, Coe BP, Eichler EE, Delatycki MB, Wilson SJ, Bahlo M, Scheffer IE, Lockhart PJ. Fanjul-Fernández M, et al. Among authors: bozaoglu k. Hum Mutat. 2022 Jan;43(1):16-29. doi: 10.1002/humu.24289. Epub 2021 Oct 21. Hum Mutat. 2022. PMID: 34633740 Free PMC article.

8

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.

Rafehi H, Green C, Bozaoglu K, Gillies G, Delatycki MB, Lockhart PJ, Scheffer IE, Bahlo M. Rafehi H, et al. Among authors: bozaoglu k. Eur J Hum Genet. 2023 Jan;31(1):122-124. doi: 10.1038/s41431-022-01166-y. Epub 2022 Aug 9. Eur J Hum Genet. 2023. PMID: 35945246 Free PMC article.

9

Generation and heterozygous repair of human iPSC lines from three individuals with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) carrying biallelic AAGGG expansions in RFC1.

Davies KC, Bozaoglu K, Lockhart PJ. Davies KC, et al. Among authors: bozaoglu k. Stem Cell Res. 2023 Apr;68:103047. doi: 10.1016/j.scr.2023.103047. Epub 2023 Feb 14. Stem Cell Res. 2023. PMID: 36805468 Free article.

10

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ. Kooshavar D, et al. Among authors: bozaoglu k. Brain Commun. 2024 Feb 28;6(2):fcae056. doi: 10.1093/braincomms/fcae056. eCollection 2024. Brain Commun. 2024. PMID: 38444904 Free PMC article.

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