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94 results

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Page 1
Neck weakness is a potent prognostic factor in sporadic amyotrophic lateral sclerosis patients.
Nakamura R, Atsuta N, Watanabe H, Hirakawa A, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Izumi Y, Morita M, Ogaki K, Taniguchi A, Aiba I, Mizoguchi K, Okamoto K, Hasegawa K, Aoki M, Kawata A, Abe K, Oda M, Konagaya M, Imai T, Nakagawa M, Tsuji S, Kaji R, Nakano I, Sobue G. Nakamura R, et al. Among authors: ogaki k. J Neurol Neurosurg Psychiatry. 2013 Dec;84(12):1365-71. doi: 10.1136/jnnp-2013-306020. Epub 2013 Aug 9. J Neurol Neurosurg Psychiatry. 2013. PMID: 23933739
Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.
Ogaki K, Li Y, Atsuta N, Tomiyama H, Funayama M, Watanabe H, Nakamura R, Yoshino H, Yato S, Tamura A, Naito Y, Taniguchi A, Fujita K, Izumi Y, Kaji R, Hattori N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Ogaki K, et al. Neurobiol Aging. 2012 Oct;33(10):2527.e11-6. doi: 10.1016/j.neurobiolaging.2012.05.011. Epub 2012 Jun 21. Neurobiol Aging. 2012. PMID: 22727276
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS; Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. Takahashi Y, et al. Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119685 Free PMC article.
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.
Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. Funayama M, et al. Among authors: ogaki k. Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4. Lancet Neurol. 2015. PMID: 25662902
Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.
Ogaki K, Li Y, Takanashi M, Ishikawa K, Kobayashi T, Nonaka T, Hasegawa M, Kishi M, Yoshino H, Funayama M, Tsukamoto T, Shioya K, Yokochi M, Imai H, Sasaki R, Kokubo Y, Kuzuhara S, Motoi Y, Tomiyama H, Hattori N. Ogaki K, et al. Parkinsonism Relat Disord. 2013 Jan;19(1):15-20. doi: 10.1016/j.parkreldis.2012.06.019. Epub 2012 Jul 18. Parkinsonism Relat Disord. 2013. PMID: 22818528
Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.
Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorová I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Labbé C, et al. Among authors: ogaki k. Neurology. 2015 Nov 10;85(19):1680-6. doi: 10.1212/WNL.0000000000001946. Epub 2015 Sep 2. Neurology. 2015. PMID: 26333800 Free PMC article.
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbé C, Lorenzo-Betancor O, Moussaud-Lamodière EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA. Ogaki K, et al. Neurology. 2015 Dec 8;85(23):2016-25. doi: 10.1212/WNL.0000000000002170. Epub 2015 Nov 11. Neurology. 2015. PMID: 26561290 Free PMC article.
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan.
Li Y, Ikeda A, Yoshino H, Oyama G, Kitani M, Daida K, Hayashida A, Ogaki K, Yoshida K, Kimura T, Nakayama Y, Ito H, Sugeno N, Aoki M, Miyajima H, Kimura K, Ueda N, Watanabe M, Urabe T, Takanashi M, Funayama M, Nishioka K, Hattori N. Li Y, et al. Among authors: ogaki k. J Hum Genet. 2020 Sep;65(9):771-781. doi: 10.1038/s10038-020-0772-4. Epub 2020 May 13. J Hum Genet. 2020. PMID: 32398759
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
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, Rudzińska-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 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
94 results