Works matching AU Yoshino, Hiroyo

Results: 35

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0617-y

By:

Takanashi, Masashi;
Funayama, Manabu;
Matsuura, Eiji;
Yoshino, Hiroyo;
Li, Yuanzhe;
Tsuyama, Sho;
Takashima, Hiroshi;
Nishioka, Kenya;
Hattori, Nobutaka

Publication type:

Article

The Utility of Long‐Read Sequencing in Diagnosing Early Onset Parkinson's Disease.

Published in:

Annals of Neurology, 2025, v. 97, n. 4, p. 753, doi. 10.1002/ana.27155

By:

Daida, Kensuke;
Yoshino, Hiroyo;
Malik, Laksh;
Baker, Breeana;
Ishiguro, Mayu;
Genner, Rylee;
Paquette, Kimberly;
Li, Yuanzhe;
Nishioka, Kenya;
Masuzugawa, Satoshi;
Hirano, Makito;
Takahashi, Kenta;
Kolmogorov, Mikhail;
Billingsley, Kimberley J.;
Funayama, Manabu;
Blauwendraat, Cornelis;
Hattori, Nobutaka

Publication type:

Article

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease.

Published in:

Annals of Neurology, 2006, v. 59, n. 2, p. 298

By:

Kenya Nishioka;
Shin Hayashi;
Matthew J. Farrer;
Andrew B. Singleton;
Hiroyo Yoshino;
Hisamasa Imai;
Toshiaki Kitami;
Kenichi Sato;
Ryu Kuroda;
Hiroyuki Tomiyama;
Koichi Mizoguchi;
Miho Murata;
Tatsushi Toda;
Issei Imoto;
Johji Inazawa;
Yoshikuni Mizuno;
Nobutaka Hattori

Publication type:

Article

Novel PINK1 mutations in early‐onset parkinsonism.

Published in:

Annals of Neurology, 2004, v. 56, n. 3, p. 424

By:

Yasuko Hatano;
Yuanzhe Li;
Kenichi Sato;
Shuichi Asakawa;
Yasuhiro Yamamura;
Hiroyuki Tomiyama;
Hiroyo Yoshino;
Masato Asahina;
Susumu Kobayashi;
Sharon Hassin‐Baer;
Chin‐Song Lu;
Arlene R. Ng;
Raymond L. Rosales;
Nobuyoshi Shimizu;
Tatsushi Toda;
Yoshikuni Mizuno;
Nobutaka Hattori

Publication type:

Article

Polymorphism in the parkin gene in sporadic Parkinson's disease.

Published in:

1999

By:

Wang, Mei;
Hattori, Nobutaka;
Matsumine, Hiroto;
Kobayashi, Tomonori;
Yoshino, Hiroyo;
Morioka, Akiko;
Kitada, Tohru;
Asakawa, Shuichi;
Minoshima, Shinsei;
Shimizu, Nobuyoshi;
Mizuno, Yoshikuni;
Wang, M;
Hattori, N;
Matsumine, H;
Kobayashi, T;
Yoshino, H;
Morioka, A;
Kitada, T;
Asakawa, S;
Minoshima, S

Publication type:

journal article

Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.

Published in:

1998

By:

Hattori, Nobutaka;
Kitada, Tohru;
Matsumine, Hiroto;
Asakawa, Shuichi;
Yamamura, Yasuhiro;
Yoshino, Hiroyo;
Kobayashi, Tomonori;
Yokochi, Masayuki;
Wang, Mei;
Yoritaka, Asako;
Kondo, Tomoyoshi;
Kuzuhara, Shigeki;
Nakamura, Shigenobu;
Shimizu, Nobuyoshi;
Mizuno, Yoshikuni;
Hattori, N;
Kitada, T;
Matsumine, H;
Asakawa, S;
Yamamura, Y

Publication type:

journal article

Mitochondrial dysfunction in Parkinson's disease.

Published in:

1998

By:

Mizuno, Yoshikuni;
Yoshino, Hiroyo;
Ikebe, Shin-Ichiro;
Hattori, Nobutaka;
Kobayashi, Tomonori;
Shimoda-Matsubayashi, Satoe;
Matsumine, Hiroto;
Kondo, Tomoyoshi;
Mizuno, Y;
Yoshino, H;
Ikebe, S;
Hattori, N;
Kobayashi, T;
Shimoda-Matsubayashi, S;
Matsumine, H;
Kondo, T

Publication type:

journal article

An immunohistochemical study on α-ketoglutarate dehydrogenase complex in Parkinson's disease.

Published in:

Annals of Neurology, 1994, v. 35, n. 2, p. 204, doi. 10.1002/ana.410350212

By:

Mizuno, Yoshikuni;
Matuda, Sadayuki;
Yoshino, Hiroyo;
Mori, Hideo;
Hattori, Nobutaka;
Ikebe, Shin-Ichirou

Publication type:

Article

Investigation of 22q11.2 Deletion in Japanese Early‐Onset Parkinsonism.

Published in:

Movement Disorders, 2024, v. 39, n. 3, p. 626, doi. 10.1002/mds.29692

By:

Ong, Stephanie;
Funayama, Manabu;
Mangyoku, Yuki;
Kawai, Hiromichi;
Yoshino, Hiroyo;
Li, Yuanzhe;
Nishioka, Kenya;
Hattori, Nobutaka

Publication type:

Article

Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.

Published in:

Movement Disorders, 2023, v. 38, n. 12, p. 2249, doi. 10.1002/mds.29610

By:

Daida, Kensuke;
Funayama, Manabu;
Billingsley, Kimberley J.;
Malik, Laksh;
Miano‐Burkhardt, Abigail;
Leonard, Hampton L.;
Makarious, Mary B.;
Iwaki, Hirotaka;
Ding, Jinhui;
Gibbs, J. Raphael;
Ishiguro, Mayu;
Yoshino, Hiroyo;
Ogaki, Kotaro;
Oyama, Genko;
Nishioka, Kenya;
Nonaka, Risa;
Akamatsu, Wado;
Blauwendraat, Cornelis;
Hattori, Nobutaka

Publication type:

Article

α‐Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property.

Published in:

Movement Disorders, 2022, v. 37, n. 10, p. 2075, doi. 10.1002/mds.29162

By:

Daida, Kensuke;
Shimonaka, Shotaro;
Shiba‐Fukushima, Kahori;
Ogata, Jun;
Yoshino, Hiroyo;
Okuzumi, Ayami;
Hatano, Taku;
Motoi, Yumiko;
Hirunagi, Tomoki;
Katsuno, Masahisa;
Shindou, Hideo;
Funayama, Manabu;
Nishioka, Kenya;
Hattori, Nobutaka;
Imai, Yuzuru

Publication type:

Article

Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features.

Published in:

2019

By:

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

Publication type:

journal article

Mutations in CHCHD2 cause α-synuclein aggregation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 23, p. 3895, doi. 10.1093/hmg/ddz241

By:

Ikeda, Aya;
Nishioka, Kenya;
Meng, Hongrui;
Takanashi, Masashi;
Hasegawa, Iwao;
Inoshita, Tsuyoshi;
Shiba-Fukushima, Kahori;
Li, Yuanzhe;
Yoshino, Hiroyo;
Mori, Akio;
Okuzumi, Ayami;
Yamaguchi, Akihiro;
Nonaka, Risa;
Izawa, Nana;
Ishikawa, Kei-ichi;
Saiki, Hidemoto;
Morita, Masayo;
Hasegawa, Masato;
Hasegawa, Kazuko;
Elahi, Montasir

Publication type:

Article

Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease.

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.576465

By:

Daida, Kensuke;
Funayama, Manabu;
Li, Yuanzhe;
Yoshino, Hiroyo;
Hayashida, Arisa;
Ikeda, Aya;
Ogaki, Kotaro;
Nishioka, Kenya;
Hattori, Nobutaka

Publication type:

Article

Nonmotor Symptoms in Patients with PARK2 Mutations.

Published in:

Parkinson's Disease (20420080), 2011, p. 1, doi. 10.4061/2011/473640

By:

Yoritaka, Asako;
Shimo, Yumi;
Shimo, Yasushi;
Inoue, Yuichi;
Yoshino, Hiroyo;
Hattori, Nobutaka

Publication type:

Article

GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease.

Published in:

Journal of Neurology, 2018, v. 265, n. 8, p. 1860, doi. 10.1007/s00415-018-8930-8

By:

Yoshino, Hiroyo;
Nishioka, Kenya;
Li, Yuanzhe;
Oji, Yutaka;
Oyama, Genko;
Hatano, Taku;
Machida, Yutaka;
Shimo, Yasushi;
Hayashida, Arisa;
Ikeda, Aya;
Mogushi, Kaoru;
Shibagaki, Yasuro;
Hosaka, Ai;
Iwanaga, Hiroshi;
Fujitake, Junko;
Ohi, Takekazu;
Miyazaki, Daigo;
Sekijima, Yoshiki;
Oki, Mitsuaki;
Kusaka, Hirofumi

Publication type:

Article

VPS35 mutation in Japanese patients with typical Parkinson's disease.

Published in:

Movement Disorders, 2012, v. 27, n. 11, p. 1413, doi. 10.1002/mds.25145

By:

Ando, Maya;
Funayama, Manabu;
Li, Yuanzhe;
Kashihara, Kenichi;
Murakami, Yoshitake;
Ishizu, Nobutaka;
Toyoda, Chizuko;
Noguchi, Katsuhiko;
Hashimoto, Takashi;
Nakano, Naoki;
Sasaki, Ryogen;
Kokubo, Yasumasa;
Kuzuhara, Shigeki;
Ogaki, Kotaro;
Yamashita, Chikara;
Yoshino, Hiroyo;
Hatano, Taku;
Tomiyama, Hiroyuki;
Hattori, Nobutaka

Publication type:

Article

Pseudo-heterozygous rearrangement mutation of parkin.

Published in:

Movement Disorders, 2012, v. 27, n. 4, p. 552, doi. 10.1002/mds.24906

By:

Funayama, Manabu;
Yoshino, Hiroyo;
Li, Yuanzhe;
Kusaka, Hiromichi;
Tomiyama, Hiroyuki;
Hattori, Nobutaka

Publication type:

Article

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.

Published in:

Movement Disorders, 2010, v. 25, n. 16, p. 2871, doi. 10.1002/mds.23313

By:

Sekine, Takeshi;
Kagaya, Hajime;
Funayama, Manabu;
Li, Yuanzhe;
Yoshino, Hiroyo;
Tomiyama, Hiroyuki;
Hattori, Nobutaka

Publication type:

Article

Rapid screening of ATP13A2 variant with high-resolution melting analysis.

Published in:

Movement Disorders, 2010, v. 25, n. 14, p. 2434, doi. 10.1002/mds.23106

By:

Funayama, Manabu;
Tomiyama, Hiroyuki;
Wu, Ruey-Meei;
Ogaki, Kotaro;
Yoshino, Hiroyo;
Mizuno, Yoshikuni;
Hattori, Nobutaka

Publication type:

Article

Familial Parkinsonism with digenic parkin and PINK1 mutations.

Published in:

Movement Disorders, 2008, v. 23, n. 10, p. 1461, doi. 10.1002/mds.22143

By:

Funayama, Manabu;
Li, Yuanzhe;
Tsoi, Tak-Hong;
Lam, Ching-Wan;
Ohi, Takekazu;
Yazawa, Shogo;
Uyama, Eiichiro;
Djaldetti, Ruth;
Melamed, Eldad;
Yoshino, Hiroyo;
Imamichi, Yoko;
Takashima, Hiroshi;
Nishioka, Kenya;
Sato, Kenichi;
Tomiyama, Hiroyuki;
Kubo, Shin-Ichiro;
Mizuno, Yoshikuni;
Hattori, Nobutaka

Publication type:

Article

Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.

Published in:

Movement Disorders, 2006, v. 21, n. 8, p. 1102, doi. 10.1002/mds.20886

By:

Tomiyama, Hiroyuki;
Li, Yuanzhe;
Funayama, Manabu;
Hasegawa, Kazuko;
Yoshino, Hiroyo;
Kubo, Shin-Ichiro;
Sato, Kenichi;
Hattori, Tatsuya;
Lu, Chin-Song;
Inzelberg, Rivka;
Djaldetti, Ruth;
Melamed, Eldad;
Amouri, Rim;
Gouider-Khouja, Neziha;
Hentati, Faycal;
Hatano, Yasuko;
Wang, Mei;
Imamichi, Yoko;
Mizoguchi, Koichi;
Miyajima, Hiroaki

Publication type:

Article

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.

Published in:

PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177955

By:

Naito, Hiroyuki;
Takahashi, Tetsuya;
Kamada, Masaki;
Morino, Hiroyuki;
Yoshino, Hiroyo;
Hattori, Nobutaka;
Maruyama, Hirofumi;
Kawakami, Hideshi;
Matsumoto, Masayasu

Publication type:

Article

PLA2G6 variant in Parkinson's disease.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 5, p. 401, doi. 10.1038/jhg.2011.22

By:

Tomiyama, Hiroyuki;
Yoshino, Hiroyo;
Ogaki, Kotaro;
Li, Lin;
Yamashita, Chikara;
Li, Yuanzhe;
Funayama, Manabu;
Sasaki, Ryogen;
Kokubo, Yasumasa;
Kuzuhara, Shigeki;
Hattori, Nobutaka

Publication type:

Article

LRRK2 P755L variant in sporadic Parkinson’s disease.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1012, doi. 10.1007/s10038-008-0336-5

By:

Tomiyama, Hiroyuki;
Mizuta, Ikuko;
Yuanzhe Li;
Funayama, Manabu;
Yoshino, Hiroyo;
Lin Li;
Murata, Miho;
Yamamoto, Mitsutoshi;
Kubo, Shin-ichiro;
Mizuno, Yoshikuni;
Toda, Tatsushi;
Hattori, Nobutaka

Publication type:

Article

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.764917

By:

Nishioka, Kenya;
Imai, Yuzuru;
Yoshino, Hiroyo;
Li, Yuanzhe;
Funayama, Manabu;
Hattori, Nobutaka

Publication type:

Article

A Novel LRRK2 Variant p.G2294R in the WD40 Domain Identified in Familial Parkinson's Disease Affects LRRK2 Protein Levels.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3708, doi. 10.3390/ijms22073708

By:

Ogata, Jun;
Hirao, Kentaro;
Nishioka, Kenya;
Hayashida, Arisa;
Li, Yuanzhe;
Yoshino, Hiroyo;
Shimizu, Soichiro;
Hattori, Nobutaka;
Imai, Yuzuru;
Pinna, Annalisa

Publication type:

Article

Unclassified four-repeat tauopathy associated with familial parkinsonism and progressive respiratory failure.

Published in:

Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01025-1

By:

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

Publication type:

Article

COQ2 variants in Parkinson’s disease and multiple system atrophy.

Published in:

Journal of Neural Transmission, 2018, v. 125, n. 6, p. 937, doi. 10.1007/s00702-018-1885-1

By:

Mikasa, Michitaka;
Kanai, Kazuaki;
Li, Yuanzhe;
Yoshino, Hiroyo;
Mogushi, Kaoru;
Hayashida, Arisa;
Ikeda, Aya;
Kawajiri, Sumihiro;
Okuma, Yasuyuki;
Kashihara, Kenichi;
Sato, Tatsuya;
Kondo, Hiroshi;
Funayama, Manabu;
Nishioka, Kenya;
Hattori, Nobutaka

Publication type:

Article

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

Published in:

Journal of Neural Transmission, 2017, v. 124, n. 4, p. 431, doi. 10.1007/s00702-016-1658-7

By:

Yamashita, Chikara;
Funayama, Manabu;
Li, Yuanzhe;
Yoshino, Hiroyo;
Yamada, Hitoshi;
Seino, Yusuke;
Tomiyama, Hiroyuki;
Hattori, Nobutaka

Publication type:

Article

Neuromelanin MRI is useful for monitoring motor complications in Parkinson's and PARK2 disease.

Published in:

Journal of Neural Transmission, 2017, v. 124, n. 4, p. 407, doi. 10.1007/s00702-017-1688-9

By:

Hatano, Taku;
Okuzumi, Ayami;
Kamagata, Koji;
Daida, Kensuke;
Taniguchi, Daisuke;
Hori, Masaaki;
Yoshino, Hiroyo;
Aoki, Shigeki;
Hattori, Nobutaka

Publication type:

Article

Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson's disease.

Published in:

NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00367-y

By:

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

Publication type:

Article

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.

Published in:

2020

By:

Lin, Chin-Hsien;
Tsai, Pei-I;
Lin, Han-Yi;
Hattori, Nobutaka;
Funayama, Manabu;
Jeon, Beomseok;
Sato, Kota;
Abe, Koji;
Mukai, Yohei;
Takahashi, Yuji;
Li, Yuanzhe;
Nishioka, Kenya;
Yoshino, Hiroyo;
Daida, Kensuke;
Chen, Meng-Ling;
Cheng, Jay;
Huang, Cheng-Yen;
Tzeng, Shiou-Ru;
Wu, Yen-Sheng;
Lai, Hsing-Jung

Publication type:

journal article

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

Published in:

2020

By:

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

Publication type:

journal article

Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.

Published in:

2019

By:

Lee, Jun Sung;
Kanai, Kazuaki;
Suzuki, Mari;
Kim, Woojin S;
Yoo, Han Soo;
Fu, YuHong;
Kim, Dong-Kyu;
Jung, Byung Chul;
Choi, Minsun;
Oh, Kyu Won;
Li, Yuanzhe;
Nakatani, Mitsuyoshi;
Nakazato, Tomoko;
Sekimoto, Satoko;
Funayama, Manabu;
Yoshino, Hiroyo;
Kubo, Shin-ichiro;
Nishioka, Kenya;
Sakai, Ryusuke;
Ueyama, Morio

Publication type:

journal article