Genki Tohnai
Nagakute, 4801195, Japan
Last Updated: 09/26/2026
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Found 27 publications
The TDP-43I383V heterozygous mutation results in increased TDP-43 expression and altered neuronal activity in ALS patient-derived iPSC motor neurons.
Journal: Neuroscience research
Published: October 08, 2025
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.
Journal: Communications biology
Published: September 30, 2024
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.
Journal: BMC medical genomics
Published: July 07, 2024
Restoring early postnatal synaptic dysregulation rescues motor neuron degeneration in a mouse model of Spinal and Bulbar Muscular Atrophy.
Journal: Nature communications
Published: June 04, 2024
Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy.
Journal: Journal of cachexia, sarcopenia and muscle
Published: April 05, 2023
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: Journal of neurology, neurosurgery, and psychiatry
Published: November 28, 2022
The SYNGAP1 3'UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: February 25, 2022
Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Journal: Neurobiology of aging
Published: March 24, 2021
Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS.
Journal: Molecular therapy. Nucleic acids
Published: August 24, 2020
Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.
Journal: Neurobiology of aging
Published: February 21, 2020
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis.
Journal: Communications biology
Published: February 13, 2020
Last Updated: 09/26/2026