CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study von Funayama, Manabu, PhD, Ohe, Kenji, MD, Amo, Taku, PhD, Furuya, Norihiko, PhD, Yamaguchi, Junji, MSc, Saiki, Shinji, MD, Li, Yuanzhe, MD, Ogaki, Kotaro, MD, Ando, Maya, MD, Yoshino, Hiroyo, PhD, Tomiyama, Hiroyuki, MD, Nishioka, Kenya, MD, Hasegawa, Kazuko, MD, Saiki, Hidemoto, MD, Satake, Wataru, MD, Mogushi, Kaoru, PhD, Sasaki, Ryogen, MD, Kokubo, Yasumasa, Prof, Kuzuhara, Shigeki, Prof, Toda, Tatsushi, Prof, Mizuno, Yoshikuni, Prof, Uchiyama, Yasuo, Prof, Ohno, Kinji, Prof, Hattori, Nobutaka, Prof

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Homozygous alpha-synuclein p.A53V in familial Parkinson’s disease von Yoshino, Hiroyo, PhD, Hirano, Makito, MD, PhD, Stoessl, A. Jon, MD, Imamichi, Yoko, BS, Ikeda, Aya, MD, Li, Yuanzhe, MD, PhD, Funayama, Manabu, PhD, Yamada, Ikuko, MD, PhD, Nakamura, Yusaku, MD, PhD, Sossi, Vesna, PhD, Farrer, Matthew J., PhD, Nishioka, Kenya, MD, PhD, Hattori, Nobutaka, MD, PhD

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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease von Oji, Yutaka, Hatano, Taku, Ueno, Shin-Ichi, Funayama, Manabu, Ishikawa, Kei-ichi, Okuzumi, Ayami, Noda, Sachiko, Sato, Shigeto, Satake, Wataru, Toda, Tatsushi, Li, Yuanzhe, Hino-Takai, Tomoko, Kakuta, Soichiro, Tsunemi, Taiji, Yoshino, Hiroyo, Nishioka, Kenya, Hattori, Tatsuya, Mizutani, Yasuaki, Mutoh, Tatsuro, Yokochi, Fusako, Ichinose, Yuta, Koh, Kishin, Shindo, Kazumasa, Takiyama, Yoshihisa, Hamaguchi, Tsuyoshi, Yamada, Masahito, Farrer, Matthew J., Uchiyama, Yasuo, Akamatsu, Wado, Wu, Yih-Ru, Matsuda, Junko, Hattori, Nobutaka

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Analysis of LIN28A variants in patients with Parkinson's disease von Peng, Hao, Li, Yuanzhe, Yoshino, Hiroyo, Shimizu, Mai, Nishioka, Kenya, Funayama, Manabu, Hattori, Nobutaka

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Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan von Li, Yuanzhe, Ikeda, Aya, Yoshino, Hiroyo, Oyama, Genko, Kitani, Mitsuhiro, Daida, Kensuke, Hayashida, Arisa, Ogaki, Kotaro, Yoshida, Kousuke, Kimura, Takashi, Nakayama, Yoshiaki, Ito, Hidefumi, Sugeno, Naoto, Aoki, Masashi, Miyajima, Hiroaki, Kimura, Katsuo, Ueda, Naohisa, Watanabe, Masao, Urabe, Takao, Takanashi, Masashi, Funayama, Manabu, Nishioka, Kenya, Hattori, Nobutaka

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Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies von Nishioka, Kenya, Imai, Yuzuru, Yoshino, Hiroyo, Li, Yuanzhe, Funayama, Manabu, Hattori, Nobutaka

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A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson's Disease Affects LRRK2 Protein Levels von Ogata, Jun, Hirao, Kentaro, Nishioka, Kenya, Hayashida, Arisa, Li, Yuanzhe, Yoshino, Hiroyo, Shimizu, Soichiro, Hattori, Nobutaka, Imai, Yuzuru

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Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features von Ikeda, Aya, Shimada, Hitoshi, Nishioka, Kenya, Takanashi, Masashi, Hayashida, Arisa, Li, Yuanzhe, Yoshino, Hiroyo, Funayama, Manabu, Ueno, Yuji, Hatano, Taku, Sahara, Naruhiko, Suhara, Tetsuya, Higuchi, Makoto, Hattori, Nobutaka

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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China von Naito, Hiroyuki, Takahashi, Tetsuya, Kamada, Masaki, Morino, Hiroyuki, Yoshino, Hiroyo, Hattori, Nobutaka, Maruyama, Hirofumi, Kawakami, Hideshi, Matsumoto, Masayasu

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Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations von Takanashi, Masashi, Funayama, Manabu, Matsuura, Eiji, Yoshino, Hiroyo, Li, Yuanzhe, Tsuyama, Sho, Takashima, Hiroshi, Nishioka, Kenya, Hattori, Nobutaka

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Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines von Mitsui, Jun, Takahashi, Yuji, Goto, Jun, Tomiyama, Hiroyuki, Ishikawa, Shunpei, Yoshino, Hiroyo, Minami, Narihiro, Smith, David I., Lesage, Suzanne, Aburatani, Hiroyuki, Nishino, Ichizo, Brice, Alexis, Hattori, Nobutaka, Tsuji, Shoji

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Genetic and clinical study of PARK7 in Japanese Parkinson's disease von Ishiguro, Mayu, Funayama, Manabu, Hatano, Taku, Nishida, Hiroshi, Wada, Yuko, Noda, Kazuyuki, Tomiyama, Masahiko, Yoshino, Hiroyo, Li, Yuanzhe, Ong, Stephanie, Cioffi, Ettore, Nishioka, Kenya, Hattori, Nobutaka

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A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515, in the SPG11 gene von Daida, Kensuke, Nishioka, Yosuke, Li, Yuanzhe, Yoshino, Hiroyo, Funayama, Manabu, Hattori, Nobutaka, Nishioka, Kenya

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Genotype-phenotype correlations of cysteine replacement in CADASIL von Matsushima, Takashi, MD, Conedera, Silvio, MD, Tanaka, Ryota, MD, PhD, Li, Yuanzhe, MD, PhD, Yoshino, Hiroyo, PhD, Funayama, Manabu, PhD, Ikeda, Aya, MD, Hosaka, Yuka, MD, Okuzumi, Ayame, MD, Shimada, Yoshiaki, MD, PhD, Yamashiro, Kazuo, MD, PhD, Motoi, Yumiko, MD, PhD, Nishioka, Kenya, MD, PhD, Hattori, Nobutaka, MD, PhD

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Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease von Daida, Kensuke, Funayama, Manabu, Li, Yuanzhe, Yoshino, Hiroyo, Hayashida, Arisa, Ikeda, Aya, Ogaki, Kotaro, Nishioka, Kenya, Hattori, Nobutaka

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Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease von Tezuka, Toshiki, Taniguchi, Daisuke, Sano, Mariko, Shimada, Tomoyo, Oji, Yutaka, Tsunemi, Taiji, Ikeda, Aya, Li, Yuanzhe, Yoshino, Hiroyo, Ogata, Jun, Shiba-Fukushima, Kahori, Funayama, Manabu, Nishioka, Kenya, Imai, Yuzuru, Hattori, Nobutaka

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A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson's disease von Ikeda, Aya, Matsushima, Takashi, Daida, Kensuke, Nakajima, Sho, Conedera, Silvio, Li, Yuanzhe, Yoshino, Hiroyo, Oyama, Genko, Funayama, Manabu, Nishioka, Kenya, Hattori, Nobutaka

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The evaluation of polyglutamine repeats in autosomal dominant Parkinson's disease von Yamashita, Chikara, Tomiyama, Hiroyuki, Funayama, Manabu, Inamizu, Saeko, Ando, Maya, Li, Yuanzhe, Yoshino, Hiroyo, Araki, Takehisa, Ichikawa, Tadashi, Ehara, Yoshiro, Ishikawa, Kinya, Mizusawa, Hidehiro, Hattori, Nobutaka

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Unclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure von Nakano, Masayoshi, Riku, Yuichi, Nishioka, Kenya, Hasegawa, Masato, Washimi, Yukihiko, Arahata, Yutaka, Takeda, Akinori, Horibe, Kentaro, Yamaoka, Akiko, Suzuki, Keisuke, Tsujimoto, Masashi, Li, Yuanzhe, Yoshino, Hiroyo, Hattori, Nobutaka, Akagi, Akio, Miyahara, Hiroaki, Iwasaki, Yasushi, Yoshida, Mari

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VPS13C Mutations and Familial Parkinson's Disease in Japan von Kenya Nishioka, Arisa Hayashida, Yuanzhe Li, Hiroyo Yoshino, Aya Ikeda, Manabu Funayama, Nobutaka Hattori

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