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Case Reports in Neurology|January 27, 2022
A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the SPAST GeneYuichi Akaba, Ryo Takeguchi, Ryosuke Tanaka, et al.Molecular Genetics & Genomic Medicine|January 17, 2020
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variantSatoru Takahashi, Ryo Takeguchi, Mami Kuroda, et al.Congenital Anomalies|June 2, 2026
Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth SpectrumRyosuke Tanaka, Ryo Takeguchi, Yuichi Akaba, et al.Journal of the Neurological Sciences|July 27, 2020
The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndromeSatoru Takahashi, Ryosuke Tanaka, Ryo Takeguchi, et al.Clinical Case Reports|March 26, 2021
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndromeYuichi Akaba, Satoru Takahashi, Ryo Takeguchi, et al.Journal of the Neurological Sciences|May 31, 2024
Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysisRyo Takeguchi, Yuichi Akaba, Mami Kuroda, et al.Human Genome Variation|May 4, 2022
Novel NARS2 variant causing leigh syndrome with normal lactate levelsRyosuke Tanaka, Ryo Takeguchi, Mami Kuroda, et al.Case Reports in Gastrointestinal Medicine|April 1, 2025
Gallstone Ileus in a 25-Year-Old Female With Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Case ReportHikaru Onoda, Mami Kuroda, Ryo Takeguchi, et al.Brain & Development|March 15, 2023
Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case studyShunsuke Haga, Ryo Takeguchi, Ryosuke Tanaka, et al.Journal of the Neurological Sciences|August 26, 2022
Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI studyRyo Takeguchi, Mami Kuroda, Ryosuke Tanaka, et al.Pageof 2