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Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: ogaki k. Brain. 2017 Jun 1;140(6):e33. doi: 10.1093/brain/awx077. Brain. 2017. PMID: 28379295 Free PMC article. No abstract available.
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Among authors: ogaki k. medRxiv [Preprint]. 2023 Aug 21:2023.08.14.23293948. doi: 10.1101/2023.08.14.23293948. medRxiv. 2023. PMID: 37790330 Free PMC article. Updated. Preprint.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Among authors: ogaki k. Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610. Epub 2023 Nov 5. Mov Disord. 2023. PMID: 37926948
Investigating FUS variation in Parkinson's disease.
Labbé C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA. Labbé C, et al. Among authors: ogaki k. Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1(0 1):S147-9. doi: 10.1016/S1353-8020(13)70035-X. Parkinsonism Relat Disord. 2014. PMID: 24262168 Free PMC article. Review.
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.
Nishioka K, Funayama M, Vilariño-Güell C, Ogaki K, Li Y, Sasaki R, Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H, Mizuno Y, Farrer MJ, Ross OA, Hattori N. Nishioka K, et al. Among authors: ogaki k. Parkinsonism Relat Disord. 2014 Jun;20(6):659-61. doi: 10.1016/j.parkreldis.2014.03.004. Epub 2014 Mar 18. Parkinsonism Relat Disord. 2014. PMID: 24704100 Free PMC article.
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C; GEO-PD Consortium. Theuns J, et al. Among authors: ogaki k. Neurology. 2014 Nov 18;83(21):1906-13. doi: 10.1212/WNL.0000000000001012. Epub 2014 Oct 17. Neurology. 2014. PMID: 25326098 Free PMC article.
Analysis of COQ2 gene in multiple system atrophy.
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Mol Neurodegener. 2014 Nov 5;9:44. doi: 10.1186/1750-1326-9-44. Mol Neurodegener. 2014. PMID: 25373618 Free PMC article.
92 results