Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP...

por Ishiura, Hiroyuki, Tsuji, Shoji, Toda, Tatsushi
Publicado 2023

JASPAC: Japan Spastic Paraplegia Research Consortium

por Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa
Publicado 2018

HIV Dementia with a Decreased Cardiac (123)I-metaiodobenzylguanidine Uptake Masquerading as Dementia with Lewy Bodies

por Kurihara, Masanori, Sasaki, Takuya, Ishiura, Hiroyuki, Tsuji, Shoji
Publicado 2018

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report

por Koh, Kishin, Takaki, Ryusuke, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa
Publicado 2021

Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy

por Kakumoto, Toshiyuki, Matsukawa, Takashi, Ishiura, Hiroyuki, Mori, Harushi, Tsuji, Shoji, Toda, Tatsushi
Publicado 2023

Copper Deficiency in Wilson's Disease with a Normal Zinc Value

por Ueda, Masayuki, Katsuse, Kazuto, Kakumoto, Toshiyuki, Kobayashi, Satoshi, Ishiura, Hiroyuki, Mitsui, Jun, Toda, Tatsushi
Publicado 2022

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

por Odake, Yasuko, Koh, Kishin, Takiyama, Yoshihisa, Ishiura, Hiroyuki, Tsuji, Shoji, Yamada, Masahito, Yoshita, Mitsuhiro
Publicado 2020

A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

por Nakamura-Shindo, Keiko, Ono, Kenjiro, Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa, Yamada, Masahito
Publicado 2020

A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient

por Kubota, Akatsuki, Ishiura, Hiroyuki, Mitsui, Jun, Sakuishi, Kaori, Iwata, Atsushi, Yamamoto, Tomotaka, Nishino, Ichizo, Tsuji, Shoji, Shimizu, Jun
Publicado 2017

A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

por Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Publicado 2022

Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity

por Hama, Yuka, Date, Hidetoshi, Fujimoto, Akiko, Matsui, Ayano, Ishiura, Hiroyuki, Mitsui, Jun, Yamamoto, Toshiyuki, Tsuji, Shoji, Mizusawa, Hidehiro, Takahashi, Yuji
Publicado 2022

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease

por Harigaya, Yasuo, Matsukawa, Takashi, Fujita, Yukio, Mizushima, Kazuyuki, Ishiura, Hiroyuki, Mitsui, Jun, Morishita, Shinichi, Shoji, Mikio, Ikeda, Yoshio, Tsuji, Shoji
Publicado 2017

VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

por Koh, Kishin, Ishiura, Hiroyuki, Shimazaki, Haruo, Tsutsumiuchi, Michiko, Ichinose, Yuta, Nan, Haitian, Hamada, Shun, Ohtsuka, Toshihisa, Tsuji, Shoji, Takiyama, Yoshihisa
Publicado 2019

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

por Kurihara, Masanori, Ishiura, Hiroyuki, Bannai, Taro, Mitsui, Jun, Yoshimura, Jun, Morishita, Shinichi, Hayashi, Toshihiro, Shimizu, Jun, Toda, Tatsushi, Tsuji, Shoji
Publicado 2019

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene

por Yagi, Hiroki, Takiguchi, Hiroshi, Takeda, Norifumi, Inuzuka, Ryo, Taniguchi, Yuki, Porto, Kristine Joyce, Ishiura, Hiroyuki, Mitsui, Jun, Morita, Hiroyuki, Komuro, Issei
Publicado 2022

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia

por Naruse, Hiroya, Takahashi, Yuji, Ishiura, Hiroyuki, Matsukawa, Takashi, Mitsui, Jun, Ichikawa, Yaeko, Hamada, Masashi, Shimizu, Jun, Goto, Jun, Toda, Tatsushi, Tsuji, Shoji
Publicado 2019

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

por Nakamura, Natsuko, Tsunoda, Kazushige, Mitsutake, Akihiko, Shibata, Shota, Mano, Tatsuo, Nagashima, Yu, Ishiura, Hiroyuki, Iwata, Atsushi, Toda, Tatsushi, Tsuji, Shoji, Sawamura, Hiromasa
Publicado 2020

A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum

por Masuzawa, Haruka, Suzuki, Fumio, Amemiya, Shiori, Orimo, Kenta, Ishiura, Hiroyuki, Hara, Ryo, Toda, Tatsushi, Nakazawa, Teruo, Honda, Akira, Tanaka, Mariko, Hinata, Munetoshi, Abe, Osamu
Publicado 2023

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

por Yoshikawa, Keisuke, Kuwahara, Motoi, Saigoh, Kazumasa, Ishiura, Hiroyuki, Yamagishi, Yuko, Hamano, Yuta, Samukawa, Makoto, Suzuki, Hidekazu, Hirano, Makito, Mitsui, Yoshiyuki, Tsuji, Shoji, Kusunoki, Susumu
Publicado 2018

Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction

por Sasaki, Ryo, Ohta, Yasuyuki, Sato, Kota, Tadokoro, Koh, Takahashi, Yoshiaki, Shang, Jingwei, Takemoto, Mami, Hishikawa, Nozomi, Yamashita, Toru, Ishiura, Hiroyuki, Tsuji, Shoji, Abe, Koji
Publicado 2019