논문KCI 등재
Early-Onset Parkinson’s Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG Syndrome
대한신경과학회 (Korean Neurological Association)|2025.03|Journal of Clinical Neurology|제21권 제2호|pp. 153-155
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Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG SyndromeAfif Lamia, Amllal Nada, Chiguer Amal, Elalaoui Siham Chafai, Izgua Amal Thimou, Lyahyai Jaber, Sefiani Abdelaziz, Zerkaoui Maria대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제1호A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia김윤중, 손영호, 신혜원, 유한수, 이진성, 이필휴, 이현주, 정석종, 홍상균대한신경과학회 · Journal of Clinical Neurology2018 · 제14권 제4호Huntington’s Disease Presenting as Adult-Onset Parkinsonism곽인희, 김나희, 김영은, 마효일대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제1호Rapidly Progressive Behavioral Syndrome Without Spastic Paraplegia in a Patient With SPAST p.Pro26Thr VariantAlladi Suvarna, Arshad Faheem, Kulanthaivelu Karthik대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2022 · 제21권 제2호Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1안종현, Ja-Hyun Jang, Soo Ryun Park, Soyoun Choi대한신경과학회 · Journal of Clinical Neurology2022 · 제18권 제6호Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia박현미, 서자영, 양지원, 이광우대한신경과학회 · Journal of Clinical Neurology2019 · 제15권 제1호
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