Chizuru Ikeda

发表论文 14 篇 · 总被引 62 次 · h-index 4

代表论文

• Atrioventricular Block and Diastolic Dysfunction in a Patient with Sanfilippo C (2010 · Internal Medicine · 被引 18)
• Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism (2020 · Neurological Sciences · 被引 17)
• Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures (2021 · Epilepsia Open · 被引 11)
• POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy (2020 · Neurology Genetics · 被引 7)
• Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly (2022 · Case Reports in Pediatrics · 被引 3)
• Clinical and genetic spectrum of patients with IRF2BPL syndrome (2025 · Journal of Human Genetics · 被引 2)