Towns C, Richer M, Jasaityte S, Stafford EJ, Joubert J, Antar T, Martinez-Carrasco A, Makarious MB, Casey B, Vitale D, Levine K, Leonard H, Pantazis CB, Screven LA, Hernandez DG, Wegel CE, Solle J, Nalls MA, Blauwendraat C, Singleton AB, Tan MMX, Iwaki H, Morris HR; Global Parkinson’s Genetics Program (GP2). Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2). NPJ Parkinsons Dis. 9(1):131, 2023.

Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D’Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L; Nigeria Parkinson Disease Research Network; International Parkinson’s Disease Genomics Consortium Africa; Black and African American Connections to Parkinson’s Disease Study Group; 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo NU; Global Parkinson’s Genetics Program. Identification of genetic risk loci and causal insights associated with Parkinson’s disease in African and African admixed populations: a genome-wide association study. Lancet Neurol. 22(11):1015-1025, 2023.

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. Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson’s Disease. Mov Disord. 38(12):2249-2257, 2023.

Okuzumi A, Hatano T, Matsumoto G, Nojiri S, Ueno SI, Imamichi-Tatano Y, Kimura H, Kakuta S, Kondo A, Fukuhara T, Li Y, Funayama M, Saiki S, Taniguchi D, Tsunemi T, McIntyre D, Gérardy JJ, Mittelbronn M, Kruger R, Uchiyama Y, Nukina N, Hattori N. Propagative α-synuclein seeds as serum biomarkers for synucleinopathies. Nat Med. 29(6):1448-1455, 2023.

Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C*. MJFF Global Genetic Parkinson’s Disease Study Group. Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort. Mov Disord. 38(2):286-303, 2023.

Funayama M, Nishioka K, Li Y, Hattori N. Molecular genetics of Parkinson’s disease: Contributions and global trends. J Hum Genet. 68, 125-130, 2023. review

Peng H, Li Y, Yoshino H, Shimizu M, Nishioka K, Funayama M, Hattori N. Analysis of LIN28A variants in patients with Parkinson’s disease. J Hum Genet. 68(5):329-331, 2023.

2022年

Nishioka K, Imai Y, Yoshino H, Li Y, Funayama M, Hattori N. Clinical Manifestations and Molecular Backgrounds of Parkinson’s Disease Regarding Genes Identified From Familial and Population Studies. Front Neurol. 13, 764917, 2022. review

Yoshino H, Li Y, Nishioka K, Daida K, Hayashida A, Ishiguro Y, Yamada D, Izawa N, Nishi K, Nishikawa N, Oyama G, Hatano T, Nakamura S, Yoritaka A, Motoi Y, Funayama M, Nishioka K, Hattori N. investigators of Japan Parkinson disease genetic study. Genotype-phenotype correlation of Parkinson’s disease with PRKN variants. Neurobiol Aging. S0197-4580(21)00371-7, 2022.

Kamo H, Oyama G, Nishioka K, Funayama M, Hattori N. Deep brain stimulation for a patient with familial Parkinson’s disease harboring CHCHD2 p.T61I. Mov Disord Clin Pract. 9(3): 407–409, 2022.

Daida K, Shimonaka S, Shiba-Fukushima K, Ogata J, Yoshino H, Okuzumi A, Hatano T, Motoi Y, Hirunagi T, Katsuno M, Shindou H, Funayama M, Nishioka K, Imai Y, Hattori N. α-Synuclein V15A variant in familial Parkinson’s disease exhibits a weaker lipid-binding property. Mov Disord. 37(10):2075-2085, 2022.

Tezuka T, Taniguchi D, Sano M, Shimada T, Oji Y, Tsunemi T, Ikeda A, Li Y, Yoshino H, Ogata J, Shiba-Fukushima K, Funayama M, Nishioka K, Imai Y, Hattori N. Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease. NPJ Parkinson’s Disease. 8: 97, 2022.

2021年

Daida K, Nishioka Y, Li Y, Yoshino H, Funayama M, Hattori N, Nishioka K. A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene. eNeurologicalSci. 100391, 2021.

Sakai SS, Hasegawa A, Ishimura R, Tamura N, Kageyama S, Komatsu-Hirota S, Abe M, Ling Y, Okuda S, Funayama M, Kikkawa M, Miura Y, Sakimura K, Narita I, Waguri S, Shimizu R, Komatsu M. Loss of Atg2b and Gskip impairs the maintenance of the hematopoietic stem cell pool size. Mol Cell Biol. 42(1):e0002421, 2021.

Grapotte M, Saraswat M, Bessière C, Menichelli C, Ramilowski JA, Severin J, Hayashizaki Y, Itoh M, Tagami M, Murata M, Kojima-Ishiyama M, Noma S, Noguchi S, Kasukawa T, Hasegawa A, Suzuki H, Nishiyori-Sueki H, Frith MC; FANTOM consortium, Chatelain C, Carninci P, de Hoon MJL, Wasserman WW, Bréhélin L, Lecellier CH. Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network. Nat Commun. 12(1):3297, 2021.

Ishiguro M, Yoshino H, Li Y, Ikeda A, Funayama M, Nishioka K, Hattori N. Genetic analysis of ATP10B for Parkinson’s disease in Japan. Parkinsonism Relat Disord. 88:10-12 2021.

Ogata J, Hirao K, Nishioka K, Hayashida A, Li Y, Yoshino H, Shimizu S, Hattori N, Imai Y. A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson’s Disease Affects LRRK2 Protein Levels. Int J Mol Sci. 22(7):3708 2021.

Sato S, Noda S, Torii S, Amo T, Ikeda A, Funayama M, Yamaguchi J, Fukuda T, Kondo H, Tada N, Arakawa S, Watanabe M, Uchiyama Y, Shimizu S, Hattori N. Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice. Hum Mol Genet. 30(6):443-453 2021.

Ishiguro M, Li Y, Yoshino H, Daida K, Ishiguro Y, Oyama G, Saiki S, Funayama M, Hattori N, Nishioka K. Clinical manifestations of Parkinson’s disease harboring VPS35 retromer complex component p.D620N with long-term follow-up. Parkinsonism Relat Disord. 84:139-143 2021.

Hayashida A, Li Y, Yoshino H, Daida K, Ikeda A, Ogaki K, Fuse A, Mori A, Takanashi M, Nakahara T, Yoritaka A, Tomizawa Y, Furukawa Y, Kanai K, Nakayama Y, Ito H, Ogino M, Hattori Y, Hattori T, Ichinose Y, Takiyama Y, Saito T, Kimura T, Aizawa H, Shoji H, Mizuno Y, Matsushita T, Sato M, Sekijima Y, Morita M, Iwasaki A, Kusaka H, Tada M, Tanaka F, Sakiyama Y, Fujimoto T, Nagara Y, Kashihara K, Todo H, Nakao K, Tsuruta K, Yoshikawa M, Hara H, Yokote H, Murase N, Nakamagoe K, Tamaoka A, Takamiya M, Morimoto N, Nokura K, Kako T, Funayama M, Nishioka K, Hattori N. The identified clinical features of Parkinson’s disease in homo-, heterozygous and digenic variants of PINK1. Neurobiol Aging. 97:146.e1-146e13 2021.

Daida K, Nishioka K, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N. PLA2G6 variants associated with the number of affected alleles in Parkinson’s disease in Japan. Neurobiol Aging. 97:147.e1-147.e9 2021.

2020年

Nishioka K, Hashizume Y, Takanashi M, Daida K, Li Y, Yoshino H, Tambasco N, Prontera P, Hattori Y, Ueda A, Watanabe H, Hattori N. Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson’s disease. Parkinsonism Relat Disord. 81:183-187 2020.

Lin CH, Tsai PI, Lin HY, Hattori N, Funayama M, Jeon B, Sato K, Abe, K, Mukai Y, Takahashi Y, Li Y, Nishioka K, Yoshino H, Daida K, Chen ML, Cheng J, Huang CY, Tzeng SR, Wu YS, Lai HJ, Tsai HH, Yen RF, Lee NC, Lo WC, Hung YC, Chan CC, Ke YC, Chao CC, Hsieh ST, Farrer MJ, Wu RM. Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism. Brain. 143(11):3352-3373 2020.

Daida K, Funayama M, Li Y. Yoshino H, Hayashida A, Ikeda A, Ogaki K, Nishioka K, Hattori N. Identification of disease-associated variants by targeted gene panel resequencing in Parkinson’s disease. Front Neurol. 11:576465 2020.

Yamaguchi A, Ishikawa KI, Inoshita T, Shiba-Fukushima K, Saiki S, Hatano T, Mori A, Oji Y, Okuzumi A, Li Y, Funayama M, Imai Y, Hattori N, Akamatsu W. Identifying Therapeutic Agents for Amelioration of Mitochondrial Clearance Disorder in Neurons of Familial Parkinson Disease. Stem Cell Reports. 4, 1060-1075, 2020.

Lee SJ, Lee JS, Funayama M, Yoo HS, Lee PH, Hattori N. Reply: ARSA Gene Variants and Parkinson’s Disease. Brain. 143, e48, 2020.

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. Clinical Characterization of Patients With Leucine-Rich Repeat Kinase 2 Genetic Variants in Japan. J Hum Genet. 65, 778-781, 2020.

Takeshige-Amano H, Saiki S, Fujimaki M, Ueno SI, Li Y, Hatano T, Ishikawa KI, Oji Y, Mori A, Okuzumi A, Tsunemi T, Daida K, Ishiguro Y, Imamichi Y, Nanmo H, Nojiri S, Funayama M, Hattori N. Shared Metabolic Profile of Caffeine in Parkinsonian Disorders. Mov Disord. 35, 1438-1447 2020.

Oji Y, Hatano T, Ueno SI, Funayama M, Ishikawa KI, Okuzumi A, Noda S, Sato S, Satake W, Toda T, Li Y, Hino-Takai T, Kakuta S, Tsunemi T, Yoshino H, Nishioka K, Hattori T, Mizutani Y, Mutoh T, Yokochi F, Ichinose Y, Koh K, Shindo K, Takiyama Y, Hamaguchi T, Yamada M, Farrer MJ, Uchiyama Y, Akamatsu W, Wu YR, Matsuda J, Hattori N. Variants in saposin D domain of prosaposin gene linked to Parkinson’s disease. Brain. 143, 1190-1205 2020.

Masuzugawa S, Nishioka K, Imai Y, Ogata J, Shojima Y, Li Y, Yoshino H, Hattori N.A novel rare variant LRRK2 associated with familial Parkinson’s disease: p.R1501W. Parkinsonism Relat Disord. 76, 46-48, 2020.

2019年

Ikeda A, Nishioka K, Meng H, Takanashi M, Inoshita T, Shiba-Fukushima K, Li Y, Yoshino H, Mori A, Okuzumi A, Yamaguchi A, Nonaka R, Izawa N, Ishikawa KI, Saiki H, Morita M, Hasegawa M, Hasegawa K1, Elahi M, Funayama M, Okano H, Akamatsu W, Imai Y, Hattori N. Mutations in CHCHD2 cause α-synuclein aggregation. Human Molecular Genetics. 28, 3895-3911, 2019.

Daida K, Nishioka K, Li Y, Yoshino H, Kikuchi A, Hasegawa T, Funayama M, Hattori N. Mutation analysis of LRP10 in Japanese patients with familial Parkinson’s disease, progressive supranuclear palsy, and frontotemporal dementia. Neurobiol Aging. 84, 235.e11-235.e16, 2019.

Lee JS, Kanai K, Suzuki M, Kim WS, Yoo HS, Fu Y, Kim DK, Jung BC, Choi M, Oh KW, Li Y, Nakatani M, Nakazato T, Sekimoto S, Funayama M, Yoshino H, Kubo SI, Nishioka K, Sakai R, Ueyama M, Mochizuki H, Lee HJ, Sardi SP, Halliday GM, Nagai Y, Lee PH, Hattori N, Lee SJ. Arylsulfatase A, a genetic modifier of Parkinson’s disease, is an α-synuclein chaperone. Brain. 142, 2845-2859, 2019.

Ikeda A, Shimada H, Nishioka K, Takanashi M, Hayashida A, Li Y, Yoshino H, Funayama M, Ueno Y, Hatano T, Sahara N, Suhara T, Higuchi M, Hattori N, Clinical heterogeneity of FTDP-17 caused by MAPT N279K mutation in relation to tau PET features. Mov Disord. 34, 568-574, 2019.

Saiki S, Sasazawa Y, Fujimaki M, Kamagata K, Kaga N, Taka H, Li Y, Souma S, Hatano T, Imamichi Y, Furuya N, Mori A, Oji Y, Ueno SI, Nojiri S, Miura Y, UenoT, Funayama M, Aoki S, Hattori N. A metabolic profile of polyamines in Parkinson’s disease: a promising biomarker. Ann Neurol. 86, 251-263, 2019.

Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson’s Disease Study Group. Using global team science to identify genetic parkinson’s disease worldwide. Ann Neurol. 86, 153-157, 2019.

Nakayama S, Shimonaka S, Elahi M, Nishioka N, Oji Y, Matsumoto S, Li, Yoshino H, Mogushi K, Hatano T, Sato T, Motoi Y, Hattori N. Tau Aggregation and Seeding Analyses of Two Novel MAPT Variants Found in Patients with Motor Neuron Disease and Progressive Parkinsonism. Neurobiol Aging. 84: 240-249, 2019.

Daida K, Nishioka K, Shimo Y, Umemura A, Yoshino H, Hattori N. Deep brain stimulation shows high efficacy in two patients with GCH1 variants. Parkinsonism Relat Disord. 65: 277–278, 2019.

2018年

Takanashi M, Funayama M (Contributed equally), Matsuura E, Yoshino H, Li Y, Tsuyama S, Takashima H, Nishioka K, Hattori N, Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations. Acta Neuropathol Commun. 6, 105, 2018.

Yoshino H, Nishioka K, Li Y, Oji Y, Oyama G, Hatano T, Machida Y, Shimo Y, Hayashida A, Ikeda A, Mogushi K, Shibagaki Y, Hosaka A, Iwanaga H, Fujitake J, Ohi T, Miyazaki D, Sekijima Y, Oki M, Kusaka H, Fujimoto K, Ugawa Y, Funayama M, Hattori N, GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease. J Neurol. 265, 1860-1870, 2018.

Mikasa M, Kanai K, Li Y, Yoshino H, Mogushi K, Hayashida A, Ikeda A, Kawajiri S, Okuma Y, Kashihara K, Sato T, Kondo H, Funayama M, Nishioka K, Hattori N, COQ2 variants in Parkinson’s disease and multiple system atrophy. J Neural Transm (Vienna). 125, 937-944, 2018.

Conedera SA, Li Y, Funayama M, Yoshino H, Nishioka K, Hattori N, Genetic analysis of TMEM230 in Japanese patients with familial Parkinson’s disease. Parkinsonism Relat Disord. 48, 107-108, 2018.

Fujimaki M, Saiki S, Li Y, Kaga N, Taka H, Hatano T, Ishikawa KI, Oji Y, Mori A, Okuzumi A, Koinuma T, Ueno SI, Imamichi Y, Ueno T, Miura Y, Funayama M, Hattori N, Serum caffeine and metabolites are reliable biomarkers of early Parkinson’s disease. Neurology. 90, 1-8, 2018.

Kono Y, Nishioka K, Li Y, Komatsuzaki Y, Ito Y, Yoshino H, Tanaka R, Iguchi Y, Hattori N. Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families. Clin Neurol Neurosurg. 172: 174–176, 2018.

2017年

Yoshino H, Hirano M, Stoessl AJ, Imamichi Y, Ikeda A, Li Y, Funayama M, Yamada I, Nakamura Y, Sossi V, Farrer MJ, Nishioka K, Hattori N, Homozygous alpha-synuclein p.A53V in familial Parkinson’s disease. Neurobiol Aging. 57, 248.e7-248.e12, 2017.

Meng H, Yamashita C, Shiba-Fukushima K, Inoshita T, Funayama M, Sato S, Hatta T, Natsume T, Umitsu M, Takagi J, Imai Y, Hattori N, Loss of Parkinson’s disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c. Nat Commun. 8, 15500, 2017.

Ikeda A, Matsushima T, Daida K, Nakajima S, Conedera S, Li Y, Yoshino H, Oyama G, Funayama M, Nishioka K, Hattori N, A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson’s disease. Parkinsonism Relat Disord. 34, 66-68, 2017.

Yamashita C, Funayama M, Li Y, Yoshino H, Yamada H, Seino Y, Tomiyama H, Hattori N, Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism. J Neural Transm (Vienna). 124, 431-435, 2017.

Uchihara Y, Kataoka H, Yoshino H, Syobatake R, Hattori N, Ueno S. Parkin mutation may be associated with serious akinesia in a patient with Parkinson’s disease. J Neurol Sci. 379, 119–121, 2017.

Naito H, Takahashi T, Kamada M, Morino M, Yoshino H, Hattori N, Maruyama H, Kawakami H, Matsumoto M. First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China. PLoS One. 12(5), e0177955, 2017.

Hatano T, Okuzumi A, Kamagata K, Daida K, Taniguchi D, Hori M, Yoshino H, Aoki S, Hattori N. Neuromelanin MRI is useful for monitoring motor complications in Parkinson’s and PARK2 disease. J Neural Transm. 124(4), 407-415, 2017.

2016年

Matsushima T, Conedera S, Tanaka R, Li Y, Yoshino H, Funayama M, Ikeda A, Hosaka Y, Okuzumi A, Shimada Y, Yamashiro K, Motoi Y, Nishioka K, Hattori N, Genotype-phenotype correlations of cysteine replacement in CADASIL. Neurobiol Aging. 50, 169.e7-169.e14, 2016.

Sato S, Koike M, Funayama M, Ezaki J, Fukuda T, Ueno T, Uchiyama Y, Hattori N, Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice. Am J Pathol. 186, 3074-3082, 2016.

Conedera S, Apaydin H, Li Y, Yoshino H, Ikeda A, Matsushima T, Funayama M, Nishioka K, Hattori N, FBXO7 mutations in Parkinson’s disease and multiple system atrophy. Neurobiol Aging. 40, 192.e1-5, 2016.

Takamura S, Ikeda A, Nishioka K, Furuya H, Tashiro M, Matsushima T, Li Y, Yoshino H, Funayama M, Morinobu S, Hattori N, Schizophrenia as a prodromal symptom in a patient harboring SNCA duplication. Parkinsonism Relat Disord. 25, 108-109, 2016.

2015年

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, Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. Neurology. 85,2016-2025, 2015.

Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, Shimizu S, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, Shinomiya N, ABCG2 variant has opposing effects on onset ages of Parkinson’s disease and gout. Ann Clin Transl Neurol. 2, 302-306, 2015.

Nishioka K, Oyama G, Yoshino H, Li Y, Matsushima T, Takeuchi C, Mochizuki Y, Mori-Yoshimura M, Murata M, Yamasita C, Nakamura N, Konishi Y, Ohi K, Ichikawa K, Terada T, Obi T, Funayama M, Saiki S, Hattori N, High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. Neurobiol Aging. 36, 2004.e9-2004.e15, 2015.

Funayama M, Hattori N. CHCHD2 and Parkinson’s Disease–Authors’ Reply. Lancet Neurol. 14, 682-683, 2015.

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, CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14, 274-282, 2015.

Asano T, Koike M, Sakata S, Takeda Y, Nakagawa T, Hatano T, Ohashi S, Funayama M, Yoshimi K, Asanuma M, Toyokuni S, Mochizuki H, Uchiyama Y, Hattori N, Iwai K, Possible involvement of iron-induced oxidative insults in neurodegeneration. Neurosci Lett. 588, 29-35, 2015.

2014年

Nakahara K, Ueda M, Yamada K, Koide T, Yoshimochi G, Funayama M, Kim JH, Yamakawa S, Mori A, Misumi Y, Uyama E, Hattori N, Ando Y, Juvenile-onset parkinsonism with digenic parkin and PINK1 mutations treated with subthalamic nucleus stimulation at 45 years after disease onset. J Neurol Sci. 345, 276-277, 2014.

Hatano T, Funayama M, Kubo S, Mata IF, Oji Y, Mori A, Zabetian CP, Waldherr SM, Yoshino H, Oyama G, Shimo Y, Fujimoto K, Oshima H, Kunii Y, Yabe H, Mizuno Y, Hattori N, Identification of a Japanese family with LRRK2 p.R1441G -related Parkinson’s disease. Neurobiol Aging. 35, 2656.e17-23, 2014.

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, EIF4G1 gene mutations are not a common cause of Parkinson’s disease in the Japanese population. Parkinsonism Relat Disord. 20, 659-661, 2014.

Yamashita C, Tomiyama H, Funayama M, Inamizu S, Ando M, Li Y, Yoshino H, Araki T, Ichikawa T, Ehara Y, Ishikawa K, Mizusawa H, Hattori N, The evaluation of polyglutamine repeats in autosomal dominant Parkinson’s disease. Neurobiol Aging. 35, 1779.e17-21, 2014.

Li Y, Sekine T, Funayama M, Li L, Yoshino H, Nishioka K, Tomiyama H, Hattori N, Clinicogenetic study of GBA mutations in patients with familial Parkinson’s disease. Neurobiol Aging. 35, 935.e3-8, 2014.

2013年

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, Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS. Parkinsonism Relat Disord. 19, 15-20, 2013.

Matsui H, Sato F, Sato S, Koike M, Taruno Y, Saiki S, Funayama M, Ito H, Taniguchi Y, Uemura N, Toyoda A, Sakaki Y, Takeda S, Uchiyama Y, Hattori N, Takahashi R, ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons. FEBS Lett. 587, 1316-1325, 2013.

Itokawa K, Sekine T, Funayama M, Tomiyama H, Fukui M, Yamamoto T, Tamura N, Matsuda H, Hattori N, Araki N, A case of α-synuclein gene duplication presenting with head-shaking movements. Mov Disord. 28, 384-387, 2013.

Riku Y, Ikeuchi T, Yoshino H, Mimuro M, Mano K, Goto Y, Hattori N, Sobue G, and Yoshida M. Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-spicing site. Acta Neuropathol Commun. 1(1), 1-12, 2013.

2012年

Imaizumi Y, Okada Y, Akamatsu W, Koike M, Kuzumaki N, Hayakawa H, Nihira T, Kobayashi T, Ohyama M, Sato S, Takanashi M, Funayama M, Hirayama A, Soga T, Hishiki T, Suematsu M, Yagi T, Ito D, Kosakai A, Hayashi K, Shouji M, Nakanishi A, Suzuki N, Mizuno Y, Mizushima N, Amagai M, Uchiyama Y, Mochizuki H, Hattori N, Okano H, Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue. Mol Brain. 5, 35, 2012.

Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N, Toyoda C, Noguchi K, Hashimoto T, Nakano N, Sasaki R, Kokubo Y, Kuzuhara S, Ogaki K, Yamashita C, Yoshino H, Hatano T, Tomiyama H, Hattori N, VPS35 mutation in Japanese patients with typical Parkinson’s disease. Mov Disord. 27, 1413-1417, 2012.

Okatsu K, Oka T, Iguchi M, Imamura K, Kosako H, Tani N, Kimura M, Go E, Koyano F, Funayama M, Shiba-Fukushima K, Sato S, Shimizu H, Fukunaga Y, Taniguchi H, Komatsu M, Hattori N, Mihara K, Tanaka K, Matsuda N, PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria. Nat Commun. 3, 1016, 2012.

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), Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiol Aging. 33, 2527.e11-16, 2012.

Funayama M, Yoshino H, Li Y, Kusaka H, Tomiyama H, Hattori N, Pseudo-heterozygous rearrangement mutation of parkin. Mov Disord. 27. 552-555, 2012.

2011年

Usami Y, Hatano T, Imai S, Kubo S, Sato S, Saiki S, Fujioka Y, Ohba Y, Sato F, Funayama M, Eguchi H, Shiba K, Ariga H, Shen J, Hattori N, DJ-1 associates with synaptic membranes. Neurobiol Dis. 43, 651-662, 2011.

Hayashi C, Funayama M, Li Y, Kamiya K, Kawano A, Suzuki M, Hattori N, Ikeda K: Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children. Int J Pediatr Otorhinolaryngol. 75: 211-214, 2011.

Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N, PLA2G6 variant in Parkinson’s disease. J Hum Genet. 56, 401-403, 2011.

2010年

Funayama M, Tomiyama H, Wu RM, Ogaki K, Yoshino H, Mizuno Y, Hattori N, Rapid screening of ATP13A2 variant with high-resolution melting analysis. Mov Disord. 25, 2434-2437, 2010.

Sekine T, Kagaya H, Funayama M, Li Y, Yoshino H, Tomiyama H, Hattori N, Clinical course of the first Asian family with Parkinsonism related to SNCA triplication. Mov Disord. 25, 2871-2875, 2010.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N, Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology. 75, 1356-1361, 2010.

Li L, Funayama M, Tomiyama H, Li Y, Yoshino H, Sasaki R, Kokubo Y, Kuzuhara S, Mizuno Y, Hattori N, No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients. Neurosci Lett. 479, 245-248, 2010.

Oyama G, Yoshimi K, Natori S, Chikaoka Y, Ren YR, Funayama M, Shimo Y, Takahashi R, Nakazato T, Kitazawa S, Hattori N, Impaired in vivo dopamine release in parkin knockout mice. Brain Res. 1352, 214-222, 2010.

Shiotsuki H, Yoshimi K, Shimo Y, Funayama M, Takamatsu Y, Ikeda K, Takahashi R, Kitazawa S, Hattori N, A rotarod test for evaluation of motor skill learning. J Neurosci Methods. 189, 180-185, 2010.

Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S. Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DND, in germ cell and cancer cell lines. Am J Hum Genet. 87(1), 75-89, 2010.

2009年以前

Kanai K, Asahina M, Arai K, Tomiyama H, Kuwabara Y, Uchiyama T, Sekiguchi Y, Funayama M, Kuwabara S, Hattori N, Hattori T, Preserved cardiac (123)I-MIBG uptake and lack of severe autonomic dysfunction in a PARK9 patient. Mov Disord. 24, 1403-1405, 2009.

Mellick GD, Siebert GA, Funayama M, Buchanan DD, Li Y, Imamichi Y, Yoshino H, Silburn PA, Hattori N, Screening PARK genes for mutations in early-onset Parkinson’s disease patients from Queensland, Australia. Parkinsonism Relat Disord. 15, 105-109, 2009.

Momma K, Funayama M, Li Y, Ichinose H, Motoyoshi K, Hattori N, Mizuno Y, Kamakura K, A new mutation in the GCH1 gene presents as early-onset Parkinsonism. Parkinsonism Relat Disord. 15, 160-161, 2009.

Tomiyama H, Li Y, Yoshino H, Mizuno Y, Kubo S, Toda T, and Hattori N. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. Neurosci Lett. 455(3), 159-61, 2009.

Nishioka K, Ross OA, Ishii K, Kachergus JM, Ishiwata K, Kitagawa M, Kono S, Tomokazu Obi T, Koichi Mizoguchi K, Inoue Y, Hisamasa Imai H, Takanash M, Yoshikuni Mizuno Y, Farrer MJ, Hattori N. Expanding the Clinical Phenotype of SNCA Duplication Carriers. Mov Disord. 24(12), 1811–1819, 2009.

Tomiyama H, Mizuta I, Li Y, Funayama M, Yoshino H, Li L, Murata M, Yamamoto M, Kubo S, Mizuno Y, Toda T, Hattori N, LRRK2 P755L variant in sporadic Parkinson’s disease. J Hum Genet. 53, 1012-1015, 2008.

Tomiyama H, Kokubo Y, Sasaki R, Li Y, Imamichi Y, Funayama M, Mizuno Y, Hattori N, Kuzuhara S, Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. Mov Disord. 23, 2344-2348, 2008.

Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N, Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. Arch Neurol. (JAMA Neurol) 65, 802-808, 2008.

Funayama M, Li Y, Tsoi TH, Lam CW, Ohi T, Yazawa S, Uyama E, Djaldetti R, Melamed E, Yoshino H, Imamichi Y, Takashima H, Nishioka K, Sato K, Tomiyama H, Kubo S, Mizuno Y, Hattori N, Familial Parkinsonism with digenic parkin and PINK1 mutations. Mov Disord. 23, 1461-1465, 2008.

Ross OA, Wu YR, Lee MC, Funayama M, Chen ML, Soto AI, Mata IF, Lee-Chen GJ, Chen CM, Tang M, Zhao Y, Hattori N, Farrer MJ, Tan EK, Wu RM, Analysis of Lrrk2 R1628P as a risk factor for Parkinson’s disease. Ann Neurol. 64, 88-92, 2008.

Ning YP, Kanai K, Tomiyama H, Li Y, Funayama M, Yoshino H, Sato S, Asahina M, Kuwabara S, Takeda A, Hattori T, Mizuno Y, Hattori N, PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology. 70, 1491-1493, 2008.

Funayama M, Li Y, Tomiyama H, Yoshino H, Imamichi Y, Yamamoto M, Murata M, Toda T, Mizuno Y, Hattori N, Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport. 18, 273-275, 2007.

Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Clinical Heterogeneity of α-synuclein gene duplication in Parkinson’s Disease. Ann Neurol. 59, 298-309, 2006.

Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N, Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson’s disease patients from 18 countries. Mov Disord. 21, 1102-1108, 2006.

Mizuno Y, Hattori N, Yoshino H, Hatano Y, Satoh K, Tomiyama H, Li Y. Progress in familial Parkinson’s disease (Review). J Neural Transm Suppl. 70, 191-204, 2006.

Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology. 64, 1955-1957, 2005.

Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Novel PINK1 mutations in early-onset Parkinsonism. Ann Neurol. 56, 424-427, 2004.

Hatano Y, Sato K, Elibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Ataç FB, Kobayashi T, Toda T, Mizuno Y, Hattori N. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology. 63, 1482-1485, 2004.