Masano Amamoto
Kitakyushu, Japan
Last Updated: 09/26/2026
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Found 11 publications
Perampanel markedly improved clinical seizures in a patient with a Rett-like phenotype and 960-kb deletion on chromosome 9q34.11 including the STXBP1.
Journal: Clinical case reports
Published: November 05, 2021
Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 01, 2021
Parotid gland atrophy after conservative treatment of a post-traumatic parotid fistula in a two-year-old boy.
Journal: International journal of pediatric otorhinolaryngology
Published: July 30, 2020
Crohn's disease and chronic recurrent multifocal osteomyelitis in a Japanese boy.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: May 11, 2020
Clinical and genetic characteristics of patients with Doose syndrome.
Journal: Epilepsia open
Published: January 23, 2020
Nasopharyngeal airway for upper airway obstruction in infectious mononucleosis.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 11, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Journal: Journal of medical genetics
Published: October 02, 2018
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Journal: American journal of human genetics
Published: July 21, 2016
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly.
Journal: Scientific reports
Published: October 11, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026