Ayumi Nishiyama

Tohoku University — Japan

Medicine · Health Sciences

14h-index752citations45works3.02yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Amyotrophic Lateral Sclerosis Research(26), Neurogenetic and Muscular Disorders Research(19), Neurological diseases and metabolism(5), Parkinson's Disease Mechanisms and Treatments(4), Neurological disorders and treatments(4)

Publications45 total

Jacifusen for FUS-ALS: molecular effects and clinical outcomes in a case series
The Lancet·2025· 1 cited
<i>MSH3</i> is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
2025· 1 citedOpen Access
The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal Dystonia
Movement Disorders Clinical Practice·2025· 1 citedOpen Access
Swift induction of human spinal lower motor neurons and robust ALS cell screening via single-cell imaging
Stem Cell Reports·2024· 8 citedOpen Access
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying <i>SOD1</i> Variants Revealed Phenotypic Differences for Common Variants
Neurology Genetics·2024· 4 citedOpen Access
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease
npj Parkinson s Disease·2023· 1 citedOpen Access
LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits
Nature Aging·2023· 11 cited
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
The American Journal of Human Genetics·2023· 22 citedOpen Access
Phase 1/2a clinical trial in ALS with ropinirole, a drug candidate identified by iPSC drug discovery
Cell stem cell·2023· 98 citedOpen Access
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
Journal of Human Genetics·2022· 123 citedOpen Access
The MMT of Elbow Flexion and the AFE Predict Impairment and Disability at 3 Weeks in Patients With Acute Stroke
Frontiers in Neurology·2022· 3 citedOpen Access
Ropinirole hydrochloride for amyotrophic lateral sclerosis: A single-center, randomized feasibility, double-blind, placebo-controlled trial
2021· 5 citedOpen Access
Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations
Stem Cell Reports·2021· 25 citedOpen Access
Possible Somatic Mosaicism of Novel <i>FUS</i> Variant in Familial Amyotrophic Lateral Sclerosis
Neurology Genetics·2021· 4 citedOpen Access
Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2020· 6 cited
A case of inflammatory myopathy with anti‐PM/Scl antibodies myopathologically presenting as polymyositis with mitochondrial pathology
Neurology and Clinical Neuroscience·2020
Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation
Stem Cell Research·2020· 8 citedOpen Access
Asymmetric basal ganglia lesion in hypertensive encephalopathy
Neurology and Clinical Neuroscience·2020
[Familial Amyotrophic Lateral Sclerosis].
PubMed·2019· 5 cited
Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons
EBioMedicine·2019· 78 citedOpen Access
page 1 of 3Next →

Frequent Co-authors

Masashi Aoki(35), Naoki Suzuki(26), Hitoshi Warita(19), Rumiko Izumi(17), Tetsuya Akiyama(14), Masaaki Kato(11), Hideyuki Okano(8), Shio Mitsuzawa(8), Tetsuya Niihori(8), Satoru Morimoto(7), Ryo Funayama(7), M. Tateyama(7), Yoko Aoki(7), Kensuke Ikeda(6), Hiroya Ono(6), Tomomi Shijo(6), Keiko Nakayama(6), Naoto Sugeno(6), Matsuyuki Shirota(5), Koki Fujimori(4)