Hisahide Nishio

Kobe, 6512180, Japan

Last Updated: 09/26/2026

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Found 112 publications

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.

An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.

Journal: Neuropathology : official journal of the Japanese Society of Neuropathology

Published: September 16, 2025

Genetic and Molecular Insights into the Links Between Heat Stroke, Alzheimer's Disease, and Down Syndrome: A Mini-Review.

Genetic and Molecular Insights into the Links Between Heat Stroke, Alzheimer's Disease, and Down Syndrome: A Mini-Review.

Journal: Genes

Published: August 29, 2025

Editorial: Special Issue "Genetic Newborn Screening".

Editorial: Special Issue "Genetic Newborn Screening".

Journal: Genes

Published: June 20, 2025

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

Incidence of Homozygous SMN2 Deletion in Japan: Cross-Reactivity of SMN2 Primers with SMN1 Sequence Causes False Negatives in Real-Time PCR Screening.

Journal: Genes

Published: May 15, 2025

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study.

Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study.

Journal: Neurology and therapy

Published: April 21, 2025

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III.

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III.

Journal: Diagnostics (Basel, Switzerland)

Published: February 12, 2025

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Journal: Genes

Published: August 07, 2024

Relationship between functional independence measure scores and timed up-and-go time in postoperative elderly patients with vertebral and hip fractures.

Relationship between functional independence measure scores and timed up-and-go time in postoperative elderly patients with vertebral and hip fractures.

Journal: Journal of physical therapy science

Published: August 02, 2024

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.

The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.

Journal: Muscle & nerve

Published: February 19, 2024

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Journal: Genes

Published: November 20, 2023

Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots.

Real-Time PCR-Based Screening for Homozygous SMN2 Deletion Using Residual Dried Blood Spots.

Journal: Genes

Published: November 09, 2023

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.

Journal: Scientific reports

Published: October 28, 2023

Showing 1-12 of 112

Last Updated: 09/26/2026