Ayumi Nishiyama

Sendai, Japan

Last Updated: 09/26/2026

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Found 27 publications

Gadolinium enhancement of the cauda equina in a case of familial ALS with p.S135G SOD1 mutation.

Gadolinium enhancement of the cauda equina in a case of familial ALS with p.S135G SOD1 mutation.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: March 05, 2026

Three case reports of optic perineuritis complicated by ocular scleritis and hypertrophic pachymeningitis.

Three case reports of optic perineuritis complicated by ocular scleritis and hypertrophic pachymeningitis.

Journal: Journal of neuroimmunology
Published: September 28, 2025

Jacifusen for FUS-ALS: molecular effects and clinical outcomes in a case series.

Jacifusen for FUS-ALS: molecular effects and clinical outcomes in a case series.

Journal: Lancet (London, England)
Published: May 07, 2025

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Journal: Neurology. Genetics
Published: May 13, 2024

Swift induction of human spinal lower motor neurons and robust ALS cell screening via single-cell imaging.

Swift induction of human spinal lower motor neurons and robust ALS cell screening via single-cell imaging.

Journal: Stem cell reports
Published: April 07, 2023

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

Journal: American journal of human genetics
Published: March 25, 2023

Phase 1/2a clinical trial in ALS with ropinirole, a drug candidate identified by iPSC drug discovery.

Phase 1/2a clinical trial in ALS with ropinirole, a drug candidate identified by iPSC drug discovery.

Journal: Cell stem cell
Published: July 03, 2022

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Journal: Journal of human genetics
Published: March 14, 2022

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

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

Journal: Nature aging
Published: October 08, 2021

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: July 31, 2020

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.

Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.

Journal: Neurology. Genetics
Published: July 29, 2020

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations.

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations.

Journal: Stem cell reports
Published: July 17, 2020
Showing 1-12 of 27

Last Updated: 09/26/2026