Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India [0.03%]
印度单中心先天性肌营养不良病例的表型-基因型谱系分析
Tanushree Chawla,Saraswati Nashi,Dipti Baskar et al.
Tanushree Chawla et al.
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectr...
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy [0.03%]
GNE基因新变异导致的远端肌病一例报告
Mahamadou Kotioumbé,Alassane B Maiga,Salia Bamba et al.
Mahamadou Kotioumbé et al.
GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progress...
Case Reports
Neurogenetics. 2024 Oct;25(4):487-492. DOI:10.1007/s10048-024-00761-z 2024
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes [0.03%]
ATP8A2的ATP酶结构域内新的错义变异及由错义改变引起的ATP8A2相关障碍的表型多样性的综述
Kyle P Flannery,Sylvia Safwat,Eli Matsell et al.
Kyle P Flannery et al.
ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development...
Case Reports
Neurogenetics. 2024 Oct;25(4):425-433. DOI:10.1007/s10048-024-00773-9 2024
The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns [0.03%]
ATP1A2基因致死型纯合变异与新生儿FARIMPS表型相关
Behzad Haj Mohammad Hassani,Kianoosh Malekzadeh
Behzad Haj Mohammad Hassani
FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a severe condition caused by ATP1A2 gene variants. The syndrome's novelty and rarity have limited its clinical and molecula...
Case Reports
Neurogenetics. 2024 Oct;25(4):417-424. DOI:10.1007/s10048-024-00775-7 2024
Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy [0.03%]
ATP13A2新型功能丧失型变异与库弗-拉克伯综合征相关精神病及抗精神病治疗的反应性
Mark Ainsley Colijn,Stephanie Vrijsen,Ping Yee Billie Au et al.
Mark Ainsley Colijn et al.
Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in af...
Case Reports
Neurogenetics. 2024 Oct;25(4):405-415. DOI:10.1007/s10048-024-00767-7 2024
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin [0.03%]
印度遗传性脊小脑共济失调病SCA27B的起源追溯研究：基于大规模队列研究的见解
Tiyasha De,Pooja Sharma,Bharathram Upilli et al.
Tiyasha De et al.
Background: The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders. Spinocerebellar ataxia type 27B (SCA27B), a recently identified dominantly inhe...
TREK-1 channel as a therapeutic target for dexmedetomidine-mediated neuroprotection in cerebral ischemia [0.03%]
TREK-1通道作为右美托咪啶介导的脑缺血神经保护的治疗靶点
Yang Xu,XiaoDan Teng,Ming Wei et al.
Yang Xu et al.
Our objective is to explore the protective effect of Dexmedetomidine on brain apoptosis and its mechanism through TREK-1 pathway. Forty male Sprague-Dawley rats were allocated into four groups: Sham, Cerebral Ischemia/Reperfusion Injury (CI...
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families [0.03%]
多重自闭症光谱系家系利用全基因组测序鉴定DYRK1A基因的新剪接变异和生殖腺嵌合体
Mehdi Agha Gholizadeh,Farkhondeh Behjati,Saghar Ghasemi Firouzabadi et al.
Mehdi Agha Gholizadeh et al.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with considerable genetic heterogeneity. The disorder is clinically diagnosed based on DSM-5 criteria, featuring deficits in social communication and interaction, alon...
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders - a systematic review [0.03%]
精神障碍患者大脑表观基因组衰老过程及其可塑性的系统评价研究视角
Jan Postberg,Michèle Tina Schubert,Vincent Nin et al.
Jan Postberg et al.
The debate surrounding nature versus nurture remains a central question in neuroscience, psychology, and in psychiatry, holding implications for both aging processes and the etiology of mental illness. Epigenetics can serve as a bridge betw...
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance [0.03%]
IFNW1和IFNA21的治疗前景及其在胶质瘤发病机制和临床意义中的作用探讨
Hong Cheng,Yingjie Zhao,Xiaoli Hou et al.
Hong Cheng et al.
Glioma, a type of brain tumor, poses significant challenges due to its heterogeneous nature and limited treatment options. Interferon-related genes (IRGs) have emerged as potential players in glioma pathogenesis, yet their expression patter...