Publications by authors named "Hiroya Naruse"

Claim this Profile
A
An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.
Kimiko Inoue, Harutoshi Fujimura, Kayo Ueda, Hisahide Nishio, Hiroya Naruse

Neuropathology· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel in-frame duplication variant of in a Japanese family with familial amyotrophic lateral sclerosis.
Masanori Nakajima, Hiroya Naruse, Yuichi Riku, Kunihiro Ueda, Takashi Matsukawa

Amyotroph Lateral Scler Frontotemporal Degener· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi

Ann Neurol· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Neuropathological Subtype of Amyotrophic Lateral Sclerosis Characterised by Prominent Astroglial TDP-43 Pathology.
Tomoyasu Matsubara, Yuishin Izumi, Yuki Hatanaka, Mika Takahara, Amuro Kondo, Hiroya Naruse

Neuropathol Appl Neurobiol· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
p.Arg191Gln mutation in a patient with semantic dementia: a case report.
Ryota Kobayashi, Hiroya Naruse, Akihito Suzuki, Tatsushi Toda, Shinobu Kawakatsu

Neurocase· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.
So Okubo, Takashi Matsukawa, Norifumi Kawamoto, Masahiko Tsujita, Kenta Orimo, Hiroya Naruse

J Hum Genet· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy.
Kenta Orimo, Takashi Matsukawa, Akihiko Mitsutake, Takusei Cho, Hiroya Naruse

J Neurol Sci· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An autopsy case report of amyotrophic lateral sclerosis with unusual basophilic inclusions exhibiting immunopositivity for optineurin.
Mayu Kashiwagi-Hakozaki, Masako Ikemura, Hiroya Naruse, Yuji Takahashi, Tatsushi Toda

Pathol Int· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.
So Okubo, Hiroya Naruse, Hiroyuki Ishiura, Atsushi Sudo, Kayoko Esaki

J Neurol· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel loss-of-function variant associated with ALS and parkinsonism phenotypes.
Hiroya Naruse, Chifumi Iseki, Jun Mitsui, Jun Miki, Hikaru Nagasawa

Amyotroph Lateral Scler Frontotemporal Degener· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
RFC1-related disorder presenting recurrent syncope.
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Hiroya Naruse

J Neurol· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: RFC1‑related disorder presenting recurrent syncope.
Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Hiroya Naruse

J Neurol· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake

Ann Clin Transl Neurol· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, Hiroya Naruse, Hiroyuki Ishiura

J Peripher Nerv Syst· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
Hiroya Naruse, So Okubo, Atsushi Sudo, Jun Mitsui, Takashi Mikata

J Peripher Nerv Syst· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits.
Dan Li, Yoshikazu Johmura, Satoru Morimoto, Miyuki Doi, Keiko Nakanishi, Hiroya Naruse

Nat Aging· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.
Jun Mitsui, Takashi Matsukawa, Yukari Uemura, Takuya Kawahara, Ayaka Chikada, Hiroya Naruse

EClinicalMedicine· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis.
Kaoru Yamakawa, Hironobu Nishijima, Akatsuki Kubota, Hiroya Naruse, Shintaro Baba

Auris Nasus Larynx· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, Chifumi Iseki, Yuya Suzuki

BMC Neurol· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
J
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel mutations.
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa

Amyotroph Lateral Scler Frontotemporal Degener· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa

Neurogenetics· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Takashi Matsukawa

J Hum Genet· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial dementia with Lewy bodies with VPS13C mutations.
Ryota Kobayashi, Hiroya Naruse, Shingo Koyama, Shinobu Kawakatsu, Hiroshi Hayashi

Parkinsonism Relat Disord· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui

Intern Med· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy.
Jumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, Hiroshi Takashima, Hirokazu Furuya, Hiroya Naruse

Intern Med· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis