Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics [0.03%]
病因特异性小脑白质营养不良患者的诊断和预后特征：单中心儿科队列研究
Yavuz Ataş,Cenk Eraslan,Tuğce Ince et al.
Yavuz Ataş et al.
Objective: To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort. Methods: ...
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review [0.03%]
肾上腺脑白质营养不良：疾病机制、诊断及治疗进展的最新研究综述
Chakresh Kumar Jain,Sarita Maurya,Pankaj Kumar Tripathi
Chakresh Kumar Jain
Adrenoleukodystrophy (ALD) is a complex and devastating X-linked neurodegenerative disorder classified as rare brain disease with profound effects on patients and their families. It can manifest in various clinical forms, ranging from adult...
Refractory myoclonic epilepsy and progressive movement disorder arising from recurrent DHDDS variants in Japanese patients: a case series [0.03%]
日本患者的难治性肌阵挛癫痫和进行性运动障碍由DHDDS复发变异引起：一系列病例
Yu Kobayashi,Satoru Sakuma,Emiko Morimoto et al.
Yu Kobayashi et al.
Objective: Heterozygous DHDDS variants have been associated with intellectual disability and seizures, with or without movement disorders. We aimed to expand the known phenotypic spectrum of DHDDS-related disorders by elu...
Polysomnographic and clinical features of childhood non-REM parasomnias: A sleep center experience [0.03%]
儿童非快动眼睡眠期异态睡眠的多导睡眠图和临床特征——一家睡眠中心的经验报告
Aslı Çıplaklıgil,Duygu Kurt Gök,Hüseyin Per et al.
Aslı Çıplaklıgil et al.
Introduction: Non-REM parasomnias are common in childhood, yet studies investigating their clinical and polysomnographic features remain limited. This study aimed to assess the clinical and sleep characteristics of childr...
Reply to: "Acute encephalopathy with biphasic seizures: Is cerebrospinal fluid glutamate truly specific?" [0.03%]
对「双相癫痫发作急性脑病：脑脊液谷氨酸确实特异吗？」一文的回答
Yasunari Sakai,Kenta Kajiwara
Yasunari Sakai
Response to the letter: "AESD and vitamin therapy: The need for biomarkers and follow-up" [0.03%]
关于信件"AESD和维生素疗法：需要生物标志物和随访"的回复
Yuichi Abe,Tatsuya Takahashi,Itaru Hayakawa et al.
Yuichi Abe et al.
Reply to "Understanding cancer risk in severe motor and intellectual disabilities: The role of external influences" [0.03%]
关于“严重运动和智力障碍中的癌症风险：外部因素的作用”的来信回复
Hiroshi Terashima,Yoshiaki Saito
Hiroshi Terashima
Associations between cerebrospinal fluid pressure levels, clinical features, and MRI abnormalities in pediatric idiopathic intracranial hypertension: A retrospective study [0.03%]
儿童特发性颅内高压患者脑脊液压力与临床及MRI特征的相关性研究回顾性研究
Hasan Emral,Tülay Kamaşak,İlker Eyüboğlu et al.
Hasan Emral et al.
Background: Idiopathic intracranial hypertension (IIH) is a condition characterized by increased cerebrospinal fluid (CSF) pressure without an identifiable cause. Although neuroimaging features are often used to support d...