Masaaki Matsushima

Japan

Last Updated: 09/26/2026

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Found 83 publications

A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease.

A Novel p. (Leu173del) Mutation in the Presenilin 1 (PSEN1) Gene in Two Sisters with Dominantly Inherited Alzheimer's Disease.

Journal: Internal medicine (Tokyo, Japan)

Published: July 20, 2026

Survey on the involvement of Japanese neurologists in genetic medicine

Survey on the involvement of Japanese neurologists in genetic medicine

Journal: Rinsho shinkeigaku = Clinical neurology

Published: June 17, 2026

Continuing decline of multisystemic subtypes and increasing unidentified cases in autosomal dominant spinocerebellar ataxia under health insurance coverage in Hokkaido.

Continuing decline of multisystemic subtypes and increasing unidentified cases in autosomal dominant spinocerebellar ataxia under health insurance coverage in Hokkaido.

Journal: Journal of the neurological sciences

Published: March 20, 2026

Nationwide screening identifies an expanded clinical spectrum of anti-KLHL11 antibody-associated neurologic disease in Japan.

Nationwide screening identifies an expanded clinical spectrum of anti-KLHL11 antibody-associated neurologic disease in Japan.

Journal: Journal of neurology

Published: March 12, 2026

Leukoencephalopathy with primary familial brain calcification: A rare phenotype associated with a novel SLC20A2 frameshift.

Leukoencephalopathy with primary familial brain calcification: A rare phenotype associated with a novel SLC20A2 frameshift.

Journal: Clinical neurology and neurosurgery

Published: September 07, 2025

Trends in Invasive Interventions and Risk Factors for Early Critical Events in Multiple System Atrophy.

Trends in Invasive Interventions and Risk Factors for Early Critical Events in Multiple System Atrophy.

Journal: Cerebellum (London, England)

Published: May 18, 2025

Current Status and Explanation of Genetic Medicine

Current Status and Explanation of Genetic Medicine

Journal: Brain and nerve = Shinkei kenkyu no shinpo

Published: March 10, 2025

Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan

Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan

Journal: Rinsho shinkeigaku = Clinical neurology

Published: January 26, 2025

Anti-Tr/DNER Antibody-associated Paraneoplastic Neurological Syndrome Presenting Limbic Encephalitis with Anaplastic Large Cell Lymphoma.

Anti-Tr/DNER Antibody-associated Paraneoplastic Neurological Syndrome Presenting Limbic Encephalitis with Anaplastic Large Cell Lymphoma.

Journal: Internal medicine (Tokyo, Japan)

Published: December 11, 2024

The importance of early immunotherapy in anti-GluK2 antibody-positive autoimmune cerebellar ataxia: A case report.

The importance of early immunotherapy in anti-GluK2 antibody-positive autoimmune cerebellar ataxia: A case report.

Journal: Journal of the neurological sciences

Published: September 10, 2024

Requirement of Repeated Serum VEGF Measurements in POEMS Syndrome.

Requirement of Repeated Serum VEGF Measurements in POEMS Syndrome.

Journal: Internal medicine (Tokyo, Japan)

Published: July 31, 2024

Pretreatment pathology study in anti-LGI1 encephalitis.

Pretreatment pathology study in anti-LGI1 encephalitis.

Journal: Journal of the neurological sciences

Published: July 14, 2024

Showing 1-12 of 83

Last Updated: 09/26/2026