H. Naruse

发表

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

T. Matsukawa, S. Tsuji, S. Morishita, 2020, Journal of Human Genetics.

Randomized, double‐blind, placebo‐controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults

T. Matsukawa, H. Ishiura, J. Mitsui, 2021, Neurology and Clinical Neuroscience.

Familial dementia with Lewy bodies with VPS13C mutations.

S. Tsuji, H. Ishiura, J. Mitsui, 2020, Parkinsonism & related disorders.

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy

S. Tsuji, H. Ishiura, J. Mitsui, 2019, Internal medicine.

Novel mutation in the SOD1 gene in a patient with early‐onset, rapidly progressive amyotrophic lateral sclerosis

S. Tsuji, S. Kusunoki, Hidekazu Suzuki, 2017 .

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population

S. Tsuji, S. Murayama, H. Ishiura, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

T. Matsukawa, S. Tsuji, H. Ishiura, 2019, neurogenetics.

Familial amyotrophic lateral sclerosis with novel A4D SOD1 mutation with late age at onset and rapid progressive course

S. Tsuji, Yuji Takahashi, J. Goto, 2013 .

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

T. Matsukawa, S. Tsuji, S. Morishita, 2020, neurogenetics.

Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report

H. Ishiura, J. Mitsui, S. Koyama, 2022, BMC Neurology.

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

T. Matsukawa, S. Tsuji, H. Ishiura, 2019, neurogenetics.

A case of osteoarthropathy due to Erdheim-Chester disease with overlapping Langerhans' cell infiltration.

Kazuhiko Yamamoto, H. Shoda, A. Okamoto, 2010, Internal medicine.

Partial duplication of DHH causes minifascicular neuropathy

S. Tsuji, G. Tate, Y. Shiio, 2017, Annals of clinical and translational neurology.

Isolated vertical ophthalmoplegia caused by bilateral rostroventral midbrain infarction

Y. Shiio, Y. Nagashima, H. Naruse, 2012, Journal of Neurology.

Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations

T. Matsukawa, S. Tsuji, H. Ishiura, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

T. Matsukawa, S. Tsuji, S. Morishita, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.

High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial

N. Sawamoto, T. Matsukawa, R. Hanajima, 2023, EClinicalMedicine.

[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].

Y. Ugawa, H. Bujo, A. Hoshi, 2015, Rinsho shinkeigaku = Clinical neurology.

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

T. Matsukawa, S. Tsuji, M. Hamada, 2019, Internal medicine.

LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits

K. Nakai, Y. Furukawa, H. Okano, 2023, Nature Aging.

Successful treatment of infliximab-associated immune-mediated sensory polyradiculopathy with intravenous immunoglobulin

A. Hida, K. Kaida, Y. Shiio, 2013, Journal of Clinical Neuroscience.

SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

T. Matsukawa, H. Ishiura, Y. Takiyama, 2024, Annals of clinical and translational neurology.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

T. Matsukawa, S. Tsuji, M. Sonoo, 2018, Neurobiology of Aging.