Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic Manifestations [0.03%]
阿罗贝达-塔姆综合征的临床谱系扩展：神经影像学发现和血液学表现
Jee Min Kim,Yoon Sunwoo,Haeryung Kim et al.
Jee Min Kim et al.
Background and objectives: Arboleda-Tham syndrome (ARTHS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the lysine acetyltransferase 6A (KAT6A) gene, characterized by global dev...
Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures [0.03%]
新的ADPRS错义变异(p.Leu162Pro)导致应激诱导的儿童期起病伴共济失调和癫痫的神经退行性疾病
Priscilla Doria de Mattos,Rafael Dias de Moura,Murilo Fígaro Bertolino et al.
Priscilla Doria de Mattos et al.
Background and objectives: ADP-ribosylation is a post-translational modification critical for DNA repair, chromatin remodeling, and cellular stress responses. The enzyme ARH3/ADPRHL2 (encoded by the ADPRS gene) is a membe...
Ke Xu,Sen Zeng,Xiaobo Li et al.
Ke Xu et al.
Background and objectives: Biallelic VRK1 variants are linked to a range of neurogenic disorders, including Charcot-Marie-Tooth and related disease (CMTR), motor neuron diseases, and spinal muscular atrophy (SMA). This st...
KCNQ2 Variants in Neonatal Epilepsy: Clinical Characteristics and Neurodevelopmental Outcomes in 30 Patients [0.03%]
KCNQ2变异导致的新生儿癫痫：30名患者的临床特征及神经发育结局
Yang Li,Jing&#x;e Li,Lili Li et al.
Yang Li et al.
Background and objectives: The aim of this study was to characterize clinical features, genetic architecture, treatment responses, and neurodevelopmental outcomes in neonatal epilepsy associated with KCNQ2 variants and to...
Prognostic Significance of NOTCH3 Small Vessel Disease Staging for the NOTCH3 p.R544C Variant [0.03%]
NOTCH3小血管病分级对p.R544C突变的预后意义
Ying-Chi Shen,Chih-Hao Chen,Hung-Chieh Chen et al.
Ying-Chi Shen et al.
Background and objectives: The NOTCH3-SVD staging system was developed to characterize NOTCH3-related small vessel disease (SVD), but it has not been validated in cohorts carrying a single pathogenic variant. We applied t...
Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation [0.03%]
帕金森病致病突变的跨祖先分析及微阵列数据验证
Samantha Hong,Mathew J Koretsky,Jens Lichtenberg et al.
Samantha Hong et al.
Background and objectives: Known pathogenic variants (PVs) in Parkinson disease (PD) contribute to disease development but have yet to be fully explored by arrays on a large scale. This study evaluated genotyping success ...
Post-Traumatic Headache in Children and Genetic Risk of Migraine: An Observational Cohort Study [0.03%]
儿童创伤后头痛与偏头痛的遗传易感性的观察性队列研究
Serena L Orr,Andrew D Hershey,Brad G Kurowski et al.
Serena L Orr et al.
Background and objectives: To examine the association between genetic risk of migraine and post-traumatic headache (PTH) in children. Methods: ...
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9 [0.03%]
定量测量岩藻糖基化α- dystroglycan作为肌萎缩性肢带病2I/R9疾病严重程度的生物标志物
John Vissing,Tahseen Mozaffar,Nicholas E Johnson et al.
John Vissing et al.
Background and objectives: Limb-girdle muscular dystrophy type 2I (LGMD2I/R9) is caused by biallelic variants in the gene for Fukutin-related protein (FKRP), an enzyme required for proper glycosylation of α-dystroglycan ...
Assessment and Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Scoping Review [0.03%]
I型神经纤维瘤病的皮肤神经纤维瘤的评估和治疗：系统评价
Hadiya Abdalla Elahmar,Carlos Alberto Soto Rincon,Aaron Drucker et al.
Hadiya Abdalla Elahmar et al.
Purpose of review: Cutaneous neurofibromas (cNFs) are a hallmark feature of neurofibromatosis type 1 (NF1) and are associated with substantial physical, psychosocial, and quality-of-life burden. Progress in therapeutic de...
Peter B Kang
Peter B Kang