Naoko Yano - Publications

Successful Treatment of Epileptic Spasms with Perampanel in a Patient with Menkes Disease Caused by a Novel Splice Variant in Intron of ATP7A.

Journal: Neuropediatrics

Published: May 28, 2026

Two siblings with Schaaf-Yang syndrome treated with growth hormone.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: November 08, 2025

Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy.

Journal: Brain : a journal of neurology

Published: February 11, 2025

A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.

Journal: Human genome variation

Published: August 14, 2024

Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A.

Journal: Journal of inherited metabolic disease

Published: May 31, 2024

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Journal: Journal of medical genetics

Published: April 18, 2024

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Journal: Neurology. Genetics

Published: November 29, 2023

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Journal: Human genome variation

Published: July 16, 2023

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Journal: Human molecular genetics

Published: November 26, 2022

A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: July 09, 2021

Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.

Journal: Brain & development

Published: February 11, 2021

A metastatic malignancy of unknown primary origin in a 12-year-old girl with anti-N-methyl-d-aspartate encephalitis.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: April 28, 2019