Genki Tohnai

Aichi Medical University — Japan

Medicine · Health Sciences

16h-index870citations43works1.62yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(28), Genetic Neurodegenerative Diseases(17), Amyotrophic Lateral Sclerosis Research(15), Muscle Physiology and Disorders(10), RNA Research and Splicing(6)

Publications43 total

A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS
Communications Biology·2025Open Access
The TDP-43I383V heterozygous mutation results in increased TDP-43 expression and altered neuronal activity in ALS patient-derived iPSC motor neurons
Neuroscience Research·2025· 1 citedOpen Access
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan
BMC Medical Genomics·2024· 2 citedOpen Access
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis
PNAS Nexus·2024· 5 citedOpen Access
Restoration of early postnatal synaptic dysregulation rescues polyglutamine-mediated motor neuron degeneration in mice
2024Open Access
Exercise attenuates polyglutamine‐mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy
Journal of Cachexia Sarcopenia and Muscle·2023· 8 citedOpen Access
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients
Journal of Neurology Neurosurgery & Psychiatry·2023· 14 cited
The<i>SYNGAP1</i>3′UTR Variant in ALS Patients Causes Aberrant<i>SYNGAP1</i>Splicing and Dendritic Spine Loss by Recruiting HNRNPK
Journal of Neuroscience·2022· 7 citedOpen Access
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis
Neurobiology of Aging·2021· 12 cited
Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS
Molecular Therapy — Nucleic Acids·2021· 30 citedOpen Access
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
Communications Biology·2020· 65 citedOpen Access
Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis
Neurobiology of Aging·2020· 20 cited
Src Inhibition Attenuates Polyglutamine-mediated Neuromuscular Degeneration in Spinal and Bulbar Muscular Atrophy (1854)
Neurology·2020· 1 cited
[The Role of Patient Registry in the Care and Therapeutic Development for Patients with Amyotrophic Lateral Sclerosis: JaCALS].
PubMed·2019· 1 cited
Src inhibition attenuates polyglutamine-mediated neuromuscular degeneration in spinal and bulbar muscular atrophy
Nature Communications·2019· 24 citedOpen Access
DNA methylation inhibitor attenuates polyglutamine‐induced neurodegeneration by regulating Hes5
EMBO Molecular Medicine·2019· 23 citedOpen Access
Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
Journal of Neurology and Neuromedicine·2019· 1 citedOpen Access
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic ALS
Japanese Society of Neurology·2018
Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility
Cell Reports·2018· 100 citedOpen Access
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis
Neurobiology of Aging·2017· 20 cited
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Frequent Co-authors

Masahisa Katsuno(35), Gen Sobue(35), Masashi Aoki(23), Hiroaki Adachi(19), Naohide Kondo(19), Madoka Iida(19), Ryoichi Nakamura(17), Kentaro Sahashi(13), Hirohisa Watanabe(12), Yuishin Izumi(12), Mitsuya Morita(12), Ryuji Kaji(12), Fumiaki Tanaka(11), Ikuko Aiba(11), Hideaki Nakatsuji(11), Masahiro Nakatochi(10), Osamu Kano(10), Hideki Doi(9), Masaya Oda(9), Satoshi Kuwabara(9)