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...
Preparing Amyotrophic Lateral Sclerosis Clinics to Provide Longitudinal Care for Individuals Carrying ALS Risk Variants [0.03%]
为携带ALS风险变异的个体提供纵向护理准备ALS诊所
Jennifer Morganroth,Julia Yasek,Matthew Harms
Jennifer Morganroth
Background and objectives: Emerging genetic therapies and the expansion of genetic testing are identifying individuals carrying amyotrophic lateral sclerosis (ALS) risk variants who would benefit from surveillance and ear...
Erratum: NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results [0.03%]
关于NNZ-2591治疗菲伦-麦德姆综合征儿童和青少年的单组开放标签II期试验结果的勘误：单组、开放标签、二期试验结果的更正公告
Ann M Neumeyer,Siddharth Srivastava,J Lloyd Holder Jr et al.
Ann M Neumeyer et al.
[This corrects the article DOI: 10.1212/NXG.0000000000200338.]. © 2026 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2026 Jun 17;12(4):e200405. DOI:10.1212/NXG.0000000000200405 2026
Expanding the Spectrum of BCAP31-Associated Diseases: Early-Onset Parkinson Disease [0.03%]
BCAP31相关疾病谱的扩展：早发型帕金森病
Mayu Ishiguro,Manabu Funayama,Daniel H Park et al.
Mayu Ishiguro et al.
Background and objectives: Hemizygous variants in B-cell receptor-associated protein 31 (BCAP31) can cause deafness, dystonia, and cerebral hypomyelination syndrome, which typically presents in infancy. ...
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome [0.03%]
ABCC9相关性智力障碍和肌病综合征的认知衰退、神经系统受累及新生儿期危象
Vini Nagaraj,Quentin Hugo Thomas,Paulo Ribeiro Nóbrega et al.
Vini Nagaraj et al.
Background and objectives: The ABCC9 gene encodes the widely expressed SUR2 subunit of ATP-sensitive potassium (KATP) channels. Autosomal recessive loss-of-function variants in ABCC9 cause ABCC9-related Intellectual disab...