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...
A novel hybrid deep learning model for segmentation and uzzy Res-LeNet based classification for Alzheimer's disease [0.03%]
基于模糊Res-LeNet的阿尔茨海默病分割及分类的新颖混合深度学习模型
Soujanya R,Syamala Maganti,Sai Hanuman Akundi
Soujanya R
Alzheimer's disease (AD) is a progressive illness that can cause behavioural abnormalities, personality changes, and memory loss. Early detection helps with future planning for both the affected person and caregivers. Thus, an innovative hy...