Atsuko Nishikawa

Itami, Japan

Last Updated: 09/26/2026

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Found 16 publications

Anti-PM/Scl antibody-positive myositis with muscle pathology resembling anti-synthetase syndrome.

Anti-PM/Scl antibody-positive myositis with muscle pathology resembling anti-synthetase syndrome.

Journal: Modern rheumatology case reports

Published: March 25, 2026

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: February 13, 2024

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: May 06, 2023

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Journal: Nature genetics

Published: March 29, 2021

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Journal: Neurology

Published: November 14, 2019

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Journal: Molecular genetics & genomic medicine

Published: November 13, 2018

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.

Journal: Muscle & nerve

Published: October 06, 2018

Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry

Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry

Journal: Rinsho shinkeigaku = Clinical neurology

Published: October 27, 2017

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.

Journal: Journal of the neurological sciences

Published: November 10, 2016

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Journal: American journal of human genetics

Published: August 07, 2016

Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.

Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.

Journal: Neurology

Published: July 12, 2016

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

Journal: Journal of medical genetics

Published: June 02, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026