Differential genetic background control state-dependent courtship ultrasonic vocalizations in mice [0.03%]
遗传背景调控小鼠状态依赖性求偶超声的分子机制研究
Saeyeon Na,Jia Ryoo,Chang Bum Ko et al.
Saeyeon Na et al.
In male mice, courtship behaviors encompass distinct appetitive and consummatory phases, accompanied by ultrasonic vocalizations (USV) that vary with courtship progression and exhibit strain-specific patterns. Despite these differences, how...
Fernanda Cristina Poscai Ribeiro,Maria Luiza Alves,Alice Campos Meneses et al.
Fernanda Cristina Poscai Ribeiro et al.
Mecasermin, a recombinant analogue of insulin‑like growth factor 1 (IGF‑1), is under investigation as a potential therapy for Rett syndrome (RTT), a neurodevelopmental disorder resulting from mutations in the MECP2 gene. In this systemati...
CRISPR-based gene therapy for huntington's disease: current advances and future prospects [0.03%]
基于CRISPR的亨廷顿舞蹈病基因治疗：当前进展与未来前景
Amna Zaheer,Noha Mohamed AboQuella,Al-Hassan Soliman Wadan et al.
Amna Zaheer et al.
CRISPR-Cas9 technology offers transformative potential in treating Huntington's Disease (HD) by directly addressing its genetic root causes. This manuscript explores the pathophysiological mechanisms of HD, characterized by toxic mutant hun...
A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review [0.03%]
NEK1基因的新移码突变导致肌萎缩侧索硬化症的病例报告和文献回顾
DeLi Yang,XiaoYang Lei,Lang Yang et al.
DeLi Yang et al.
To investigate a novel NIMA Related Kinase 1 (NEK1) frameshift mutation in amyotrophic lateral sclerosis (ALS), assess its pathogenicity using computational algorithms and genetic databases, and analyze the clinical manifestations of cases ...
A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis [0.03%]
伊朗家族中伴有刺红细胞的舞蹈病的新VPS13A突变
Maryam Salmanian,Fatemeh Mohammadian,Fatemeh Alizadeh
Maryam Salmanian
Chorea-Acanthocytosis (ChAc) is a rare genetic disorder characterized by progressive neurodegeneration and acanthocytosis in the bloodstream. Biallelic mutations in the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene have been identifie...
Case Reports
Neurogenetics. 2025 Oct 22;26(1):74. DOI:10.1007/s10048-025-00855-2 2025
Gaucher syndrome: report of six cases and review of genetic mutations among Iranian patients [0.03%]
戈谢病的临床特点及伊朗患者的基因型分布
Mohammad Miryounesi,Mohadeseh Fathi,Sheyda Khalilian et al.
Mohammad Miryounesi et al.
Gaucher disease (GD) is a lysosomal storage disorder with an autosomal recessive inheritance pattern. The clinical manifestation of the GD arises from lack of appropriate metabolism of a fatty substance called glucocerebroside, predominantl...
ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential [0.03%]
神经发育障碍中的ZNRF3：Wnt信号通路的新见解及其治疗潜力
Yasmin Yusuf Hussein Dinle,Ruping Liu,Mainak Sengupta et al.
Yasmin Yusuf Hussein Dinle et al.
Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and intellectual disabilities (ID), have seen an increasing prevalence in recent years. Both genetic and environ...
Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan [0.03%]
IDS c.1122C>T突变的族裔和临床谱系扩展：来自巴基斯坦的第一项报告
Sana Fatima,Hunza Malik,Aftab Ali et al.
Sana Fatima et al.
Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a rare X-linked lysosomal storage disorder caused by mutations in the IDS, which encodes the iduronate-2-sulfatase enzyme. The main aim of the current genetic study w...
Case Reports
Neurogenetics. 2025 Oct 1;26(1):71. DOI:10.1007/s10048-025-00845-4 2025
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy [0.03%]
CHKb基因三种罕见变异导致的巨线粒体先天性肌病的可变剪接事件分析
Francisco Javier Cotrina-Vinagre,María Elena Rodríguez-García,María Martín-Cazaña et al.
Francisco Javier Cotrina-Vinagre et al.
We report the case of a Spanish female patient with progressive myopathy and severe muscle atrophy, intellectual delay, absence of expressive language development, overweight, and mitochondrial abnormalities. Whole-exome sequencing uncovere...
Case Reports
Neurogenetics. 2025 Sep 30;26(1):70. DOI:10.1007/s10048-025-00851-6 2025
Kyriaki Kekou,Constantinos Papadopoulos,Maria Svingou et al.
Kyriaki Kekou et al.
Oculopharyngeal muscular dystrophy (OPMD) is a rare, adult-onset, autosomal dominant myopathy characterized by variability in the age of onset and disease progression. However, its pathogenesis and phenotypic variability remain poorly under...