Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy [0.03%]
STXBP1脑病临床和遗传特征与皮质和皮下白质形态异常的关系
Matteo Lenge,Alice Dainelli,Simona Balestrini et al.
Matteo Lenge et al.
Background and objectives: Disease-causing variants in the syntaxin-binding protein 1 (STXBP1) gene are among the most common genetic causes of developmental and epileptic encephalopathies and are associated with a wide p...
APOE, Ancestry, and the Limits of Portability in Neurodegenerative Disease Genetics [0.03%]
载脂蛋白E、遗传背景与神经退行性疾病的遗传学移植限度
Farren B S Briggs
Farren B S Briggs
Reduced Effect of APOE4 on White Matter Microstructure in an American Indian Community [0.03%]
在美国印第安人社区中APOE4对白质微结构影响降低
René Labounek,Matti J Matheson,Corey A Strong et al.
René Labounek et al.
Background and objectives: Apolipoprotein E4 (APOE4) is central to Alzheimer disease (AD) personalized medicine, yet its link to AD is highly ancestry-dependent. Emerging evidence suggests an attenuated risk of APOE4 on b...
The Association Between APOE Genotype, Race, and Dementia: An Analysis of 7 Population-Based Cohort Studies [0.03%]
APOE基因型与种族和痴呆的关联：基于7项人群队列研究的分析
Natalia Lakomski,Katherine Giorgio,John Stephen et al.
Natalia Lakomski et al.
Background and objectives: The apolipoprotein E (APOE) haplotypes are known to be associated with dementia, with the ε4 haplotype associated with higher risk. It has been suggested that the APOE ε2 allele serves as a pr...
Erratum: Consequences of the Novel ALS-Associated KIF5 A Variant c.2993-6C>A for Exon 27 Splicing and Axonal Transport of SFPQ [0.03%]
题图：ALS相关新位点KIF5A变异c.2993-6C>A对第27外显子剪接和SFPQ轴突运输的影响修正
Ziqi Yu,Jay P Ross,Daniel Rochefort et al.
Ziqi Yu et al.
[This corrects the article DOI: 10.1212/NXG.0000000000200362.]. © 2026 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2026 Jul 13;12(4):e200410. DOI:10.1212/NXG.0000000000200410 2026
Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers [0.03%]
利用疾病携带者的分子标志定义自体隐性遗传性肢带型肌营养不良症中的单倍体充分现象
Alison Gaynor,Dove Enicks,Katherine Karam et al.
Alison Gaynor et al.
Autosomal recessive forms of limb-girdle muscular dystrophy are caused by biallelic loss of function variants. Haplosufficient carriers are hypothesized to have sufficient protein expression to maintain normal physical function. This study ...
Andrew T Hale,Adam J Kundishora,Kristopher T Kahle
Andrew T Hale
Structural neurovascular lesions (SNVLs)-arteriovenous malformations, cavernous malformations, and vein of Galen aneurysmal malformations, among others-have historically been treated using neurosurgical, radiotherapeutic, and endovascular a...
AI-Driven Multidimensional Phenotyping for Variant Classification in Rare Neurogenetic Disorders [0.03%]
罕见神经遗传病变异分类的AI驱动多维度表型分析
Anna Fetta,Duccio Maria Cordelli
Anna Fetta
Leveraging Next-Generation Phenotyping in Dysmorphology to Support Variant Interpretation in Mowat-Wilson Syndrome [0.03%]
利用下一代表型分析在畸胎学中支持穆沃特-威尔逊综合症变异解析的研究
Tzung-Chien Hsieh,Dylan Todd,Taylor Warner et al.
Tzung-Chien Hsieh et al.
Background and objectives: Next-generation phenotyping (NGP) tools, such as GestaltMatcher, have revolutionized the diagnosis of rare genetic disorders through computational facial analysis. While NGP has been widely inte...
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and Meta-Analysis [0.03%]
杜氏肌营养不良和Delandistrogene moxeparvovec基因治疗在儿童中的应用：系统回顾和meta分析
Breno Bopp Antonello,Fabio Cargnelutti Fontoura,Anna Luiza Braga Albuquerque et al.
Breno Bopp Antonello et al.
Background and objectives: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by DMD pathogenic variants, leading to dystrophin deficiency, muscle degeneration, loss of ambulation, respirator...