Yu Abe
Sendai, Japan
Last Updated: 09/26/2026
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Found 9 publications
A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Journal: Pediatric neurology
Published: September 01, 2022
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Journal: Journal of human genetics
Published: August 07, 2022
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis.
Journal: Brain & development
Published: August 12, 2021
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Journal: American journal of medical genetics. Part A
Published: July 23, 2021
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.
Journal: Molecular genetics and metabolism reports
Published: November 24, 2020
Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
Journal: Developmental medicine and child neurology
Published: May 27, 2014
A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.
Journal: Brain & development
Published: September 13, 2012
Bilateral periventricular nodular heterotopia with megalencephaly: a case report.
Journal: Journal of child neurology
Published: September 02, 2012
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Last Updated: 09/26/2026