[1]. A novel heterozygous GCH1 gene variant in a family with dopa-responsive dystonia: a case report
Brain and Development Case Reports Elsevier BV [Volume]4 [Issue]2 [Page]100138 -100138 （2026/） [Reviewed] Yes
[DOI] [2]. Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.
Journal of human genetics （2026/） [Reviewed] Yes
[DOI] [3]. Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.
Seizure [Volume]131 [Page]340 -343 （2025/） [Reviewed] Yes
[4]. Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Severe Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 Variant.
Acta medica Okayama [Volume]79 [Issue]4 [Page]293 -297 （2025/） [Reviewed] Yes
[5]. An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.
Brain & development [Volume]47 [Issue]5 [Page]104405 （2025/） [Reviewed] Yes