Jun Mitsui

Precision for Medicine (United States) — United States

Neuroscience · Life Sciences

35h-index7.1kcitations237works1.22yr avg
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Research Topics

Neurological diseases and metabolism(44), Hereditary Neurological Disorders(37), Genetic Neurodegenerative Diseases(36), Parkinson's Disease Mechanisms and Treatments(25), Neurogenetic and Muscular Disorders Research(25)

Publications235 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
Dorsolateral Cervical Cord <scp>T2</scp> Hyperintensity in <scp> <i>KIF1C</i> </scp> ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
Annals of Clinical and Translational Neurology·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
Nationwide Characterization of <scp> <i>MFN2</i> </scp> ‐Related <scp>CMT</scp> in 176 Japanese Patients: Clinical and Genetic Insights
Annals of Clinical and Translational Neurology·2025Open Access
Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3
Journal of the Neurological Sciences·2025Open Access
<i>INF2</i> ‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Annals of Clinical and Translational Neurology·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
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration
Journal of Human Genetics·2025Open Access
SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights
Journal of Neurology·2025· 3 citedOpen Access
A subgroup of multiple system atrophy with rapid decline in vital capacity
Journal of the Neurological Sciences·2025· 2 citedOpen Access
Efficient variant phasing utilizing a replication cycle reaction system
Genetics in Medicine Open·2025Open Access
A TMEM260 biallelic deletion underlies truncus arteriosus
Molecular Syndromology·2024Open 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
A novel de novo disease‐causing variant in <i>ATL1</i> in a pediatric patient with spastic paraplegia
Neurology and Clinical Neuroscience·2024Open Access
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Frequent Co-authors

Shoji Tsuji(43), Hiroyuki Ishiura(36), Shinichi Morishita(20), Yuji Takahashi(17), Jun Yoshimura(16), Jun Goto(15), Takashi Matsukawa(13), Koichiro Doi(12), Yaeko Ichikawa(9), Tatsushi Toda(8), Hidetoshi Date(8), Shigeo Murayama(7), Jun Shimizu(7), Hiroshi Takashima(7), Osamu Onodera(6), Atsushi Iwata(5), Jun Goto(5), Budrul Ahsan(5), Masashi Aoki(5), Gen Sobue(5)