Hisahide Nishio

University of Tokyo

H指数:35

被引数:4,494

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

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

一例临床表现为散发性成年发病性下运动神经元病，且基因检测发现SOD1基因存在p.Leu127Ser (L126S)变异及SMN2基因缺失的ALS尸检病例。

NEUROPATHOLOGY

IF1.2

2025-11-140

PRE

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

热射病、阿尔茨海默病和唐氏综合征之间关联的遗传与分子洞察：一篇迷你综述

Genes 2025, Vol. 16, Page 1171

IF2.8

2025-10-050

OAAI

Editorial: Special Issue “Genetic Newborn Screening”

编辑：特刊“遗传新生儿筛查”

Genes 2025, Vol. 16, Page 1006

IF2.8

2025-08-290

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

日本脊髓性肌萎缩症患者中Risdiplam的安全性：一项上市后监测研究的12个月中期分析

Neurology and Therapy

IF4.8

2025-08-090

OAAI

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

DIAGNOSTICS

IF3.3

2025-03-170

OAAI

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

尿肌联蛋白的N端片段并非钙蛋白酶3的降解产物

MUSCLE & NERVE

IF3.1

2025-01-081

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2024-03-186

OAAI

A novel splice variant of the human MSTN gene encodes a myostatin-specific myostatin inhibitor

JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE

IF9.1

2023-08-151

OAAI

Newborn screening for spinal muscular atrophy

LANCET CHILD & ADOLESCENT HEALTH

IF15.5

2023-03-013

PRE

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2022-09-261

OAAI

A sandwich ELISA kit reveals marked elevation of titin N-terminal fragment levels in the urine of mdx mice

ANIMAL MODELS AND EXPERIMENTAL MEDICINE

IF3.4

2022-02-039

OAAI

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2021-11-164

OAAI

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

LIFE-BASEL

IF3.4

2021-09-163

OAAI

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

日本的脊髓性肌萎缩症: 诊断，发病率和新生儿筛查

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2021-07-2024

OAAI

Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells

SCIENTIFIC REPORTS

IF3.9

2020-10-1314

OAAI

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2020-05-2911

OAAI

The Protective Effects of Levetiracetam on a Human iPSCs-Derived Spinal Muscular Atrophy Model

NEUROCHEMICAL RESEARCH

IF3.8

2019-05-1716

PREAI

Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems

SCIENTIFIC REPORTS

IF3.9

2019-03-0621

OAAI

Can urinary titin be used for predicting Duchenne muscular dystrophy?

CLINICA CHIMICA ACTA

IF2.9

2019-03-012

PREAI

A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

JOURNAL OF CLINICAL NEUROLOGY

IF3.1

2019-01-010

OAAI

Hisahide Nishio

个人简介

教育背景

工作经历

荣誉奖项

研究方向