Research field (3)：
Neurology
, Genomics
, Medical biochemistry
Research keywords (3)：
ヒトゲノム
, 神経変性疾患
, パーキンソン病
Research theme for competitive and other funds (5)：
2021 - 2024 パーキンソン病関連遺伝子の網羅的解析による遺伝的リスク因子の解明
2016 - 2019 Mutational analysis of the CHCHD2 gene in neurodegenerative diseases
2013 - 2017 The detection of modifier gens in alpha-synuclein multiplications
2013 - 2016 Search for the causative gene in consanguineous families with Parkinson's disease
2011 - 2012 Autozygosity mapping in consanguineous families with Parkinson's disease
Papers (95)：
Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa, et al. The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease. Annals of neurology. 2024
Mayu Ishiguro, Manabu Funayama, Taku Hatano, Hiroshi Nishida, Yuko Wada, Kazuyuki Noda, Masahiko Tomiyama, Hiroyo Yoshino, Yuanzhe Li, Stephanie Ong, et al. Genetic and clinical study of PARK7 in Japanese Parkinson's disease. Heliyon. 2024. 10. 15. e35271
Aya Ikeda, Hongrui Meng, Daisuke Taniguchi, Muneyo Mio, Manabu Funayama, Kenya Nishioka, Mari Yoshida, Yuanzhe Li, Hiroyo Yoshino, Tsuyoshi Inoshita, et al. CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis. PNAS Nexus. 2024. 3. 8
Toshiki Tezuka, Mayu Ishiguro, Daisuke Taniguchi, Ehoto Osogaguchi, Kahori Shiba-Fukushima, Jun Ogata, Ryota Ishii, Aya Ikeda, Yuanzhe Li, Hiroyo Yoshino, et al. Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease. Neurobiology of disease. 2024. 199. 106571-106571
Kensuke Daida, Hiroyo Yoshino, Laksh Malik, Breeana Baker, Mayu Ishiguro, Rylee Genner, Kimberly Paquette, Yuanzhe Li, Kenya Nishioka, Satoshi Masuzugawa, et al. The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study. medRxiv : the preprint server for health sciences. 2024
N. Hattori, K. Nishioka, T. Matsushima, Y. Li, H. Yoshino, M. Takanashi, M. Funayama. Clinicogenetic study of CHCHD2 in patients with autosomal dominant familial Parkinson's disease. JOURNAL OF THE NEUROLOGICAL SCIENCES. 2015. 357. E58-E59
H. Tomiyama, M. Ando, Y. Li, H. Yoshino, N. Hattori. Mutation analysis for DNAJC6 in patients with early-onset Parkinson's disease. MOVEMENT DISORDERS. 2013. 28. S400-S401
H. Tomiyama, H. Yoshino, K. Ogaki, L. Li, C. Yamashita, Y. Li, M. Funayama, R. Sasaki, Y. Kokubo, S. Kuzuhara, et al. Mutation analysis for PLA2G6 in patients with Parkinson's disease/frontotemporal type of dementia. MOVEMENT DISORDERS. 2012. 27. S470-S471
