Takashi Matsukawa

Tokyo, Japan

Last Updated: 09/26/2026

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Found 147 publications

Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia.

Journal: Internal medicine (Tokyo, Japan)

Published: August 19, 2026

A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia.

A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia.

Journal: Internal medicine (Tokyo, Japan)

Published: June 28, 2026

Posterior Disconnection Syndrome in Early-Stage Adult-Onset Cerebral Adrenoleukodystrophy.

Posterior Disconnection Syndrome in Early-Stage Adult-Onset Cerebral Adrenoleukodystrophy.

Journal: Annals of clinical and translational neurology

Published: June 05, 2026

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset.

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset.

Journal: Cerebellum (London, England)

Published: March 10, 2026

Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: December 03, 2025

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.

Journal: Neurogenetics

Published: October 30, 2025

Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.

Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.

Journal: Neurology. Genetics

Published: October 27, 2025

Reply to the Letter Regarding "Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia".

Reply to the Letter Regarding "Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia".

Journal: Internal medicine (Tokyo, Japan)

Published: October 08, 2025

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

Journal: Annals of clinical and translational neurology

Published: August 31, 2025

Relationship Between Preoperative Neutrophil-to-Lymphocyte Ratio and Patient-Controlled Analgesia Consumption Following Cardiac Surgery: A Retrospective Study.

Relationship Between Preoperative Neutrophil-to-Lymphocyte Ratio and Patient-Controlled Analgesia Consumption Following Cardiac Surgery: A Retrospective Study.

Journal: Cureus

Published: July 18, 2025

A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody.

A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody.

Journal: Internal medicine (Tokyo, Japan)

Published: July 02, 2025

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

Journal: Annals of neurology

Published: May 16, 2025

Showing 1-12 of 147

Last Updated: 09/26/2026