Narihiro Minami

Tokyo, Japan

Last Updated: 09/26/2026

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Found 31 publications

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Journal: Orphanet journal of rare diseases

Published: March 21, 2024

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.

Journal: Journal of neuromuscular diseases

Published: February 27, 2023

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.

Journal: Internal medicine (Tokyo, Japan)

Published: February 15, 2023

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.

Journal: Acta neuropathologica communications

Published: October 01, 2022

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy.

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: October 20, 2021

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.

Journal: Neuropathology and applied neurobiology

Published: October 16, 2021

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Journal: JAMA neurology

Published: May 28, 2021

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.

Journal: BMC neurology

Published: May 17, 2021

A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.

A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: August 30, 2020

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

Journal: Journal of neuromuscular diseases

Published: July 12, 2020

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Journal: Orphanet journal of rare diseases

Published: February 18, 2020

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.

Journal: Journal of human genetics

Published: February 16, 2020

Showing 1-12 of 31

Last Updated: 09/26/2026