Shoji Tsuji

Kansai Medical University — Japan

Neuroscience · Life Sciences

95h-index38.0kcitations845works1.52yr avg
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Research Topics

Genetic Neurodegenerative Diseases(219), Mitochondrial Function and Pathology(146), Parkinson's Disease Mechanisms and Treatments(90), Neurological diseases and metabolism(88), Hereditary Neurological Disorders(78)

Publications838 total

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion
Journal of Human Genetics·2025
Novel in-frame duplication variant of <i>SOD1</i> in a Japanese family with familial amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2025
Safety and efficacy of vibegron in pediatric patients with treatment-resistant nocturnal enuresis: a multicenter retrospective study
Translational Pediatrics·2025Open Access
Frameshift and Copy Number Variants in <i>SACS</i> -Related Neuropathy
Neurology Genetics·2025Open Access
Vanishing White Matter Disease With <i>EIF2B2</i> c.254T&gt;A Variant
Neurology Genetics·2025Open Access
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3
Journal of the Neurological Sciences·2025Open Access
Vanishing White Matter Disease With <i>EIF2B2</i> c.254 &gt;A Variant
Neurology Genetics·2025· 1 citedOpen Access
Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series
Journal of Neurology·2025Open Access
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
Human Genome Variation·2025Open Access
Neurology pioneers in Japan
Arquivos de Neuro-Psiquiatria·2025· 1 citedOpen Access
Efficient variant phasing utilizing a replication cycle reaction system
Genetics in Medicine Open·2025Open Access
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability
The Cerebellum·2024
Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
Journal of Neurology·2024· 2 citedOpen Access
Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population
European Journal of Human Genetics·2024· 6 citedOpen Access
DNA sequencing and other methods of exonic and genomic analyses
Elsevier eBooks·2024
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Journal of Human Genetics·2024Open Access
Ataxias in Brazil
Arquivos de Neuro-Psiquiatria·2024Open Access
A Novel &lt;i&gt;De Novo&lt;/i&gt; Variant in &lt;i&gt;KCNH5&lt;/i&gt; in a Patient with Refractory Epileptic Encephalopathy
Internal Medicine·2024Open Access
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Journal of Human Genetics·2024· 5 citedOpen Access
A novel <i>TBK1</i> loss-of-function variant associated with ALS and parkinsonism phenotypes
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2024· 2 cited
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Frequent Co-authors

Hitoshi Takahashi(10), Masatoyo Nishizawa(9), Osamu Onodera(8), Hiroyuki Ishiura(7), Jun Mitsui(6), Yuji Takahashi(6), Gen Sobue(6), Yoshihisa Takiyama(6), Hidetoshi Date(6), Jun Goto(6), Hajime Tanaka(6), Tatsushi Toda(5), Masashi Aoki(5), Hidenao Sasaki(5), Hiroki Takano(5), Takeshi Ikeuchi(5), Reiji Koide(5), Alexis Brice(4), Mitsunori Yamada(4), Ichiro Yabe(4)