Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita [0.03%]
CLCN1内新的深部内含子变异引起的常染色体隐性先天性肌强直
Shaimaa Helal,Neta Pipko,Yijing Liang et al.
Shaimaa Helal et al.
Myotonia congenita is a skeletal muscle channelopathy caused by pathogenic variants in CLCN1, encoding the ClC-1 chloride channel. We report two sisters with clinical features consistent with recessive myotonia congenita and compound hetero...
Case Reports
Neurogenetics. 2026 Aug 14;27(1):56. DOI:10.1007/s10048-026-00925-z 2026
Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review [0.03%]
SQSTM1变异在ALS的临床意义：p.Arg119Cys报告及文献回顾
Boyang Su,Ling Li,Xiaoxiao Zheng et al.
Boyang Su et al.
We analyzed the clinical features of a patient with amyotrophic lateral sclerosis (ALS) carrying a novel variant in the sequestosome 1 (SQSTM1) gene and explored the genotype-phenotype association of SQSTM1 gene variants in combination with...
PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms [0.03%]
PPP1R21相关神经发育障碍：表型界定、变异频谱及病理生理机制
Francesco Fabrizio Comisi,Gabriele Di Pasquale,Andrea Maria Comisi et al.
Francesco Fabrizio Comisi et al.
PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical,...
Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study [0.03%]
立陶宛运动神经元病患者的基因变异-一项单中心回顾性研究
Eva Naktinytė,Ramunė Vilimienė,Domantas Valančius et al.
Eva Naktinytė et al.
Motor neuron disease (MND) comprises several clinical phenotypes, with amyotrophic lateral sclerosis (ALS) being the most common. Despite the identification of over 40 ALS-associated genes, the pathogenesis remains complex and polygenic. Th...
Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement [0.03%]
突尼斯人群脊髓性肌萎缩的回顾性分析：表型-基因型关联及治疗进展考虑因素
Walid Sabri Hamadou,Abdelbasset Amara,Hamza Chouk et al.
Walid Sabri Hamadou et al.
This study retrospectively analyzed 97 Tunisian Spinal Muscular Atrophy (SMA) patients (2008-2024), characterizing their phenotypes, diagnosis age, and consanguinity alongside copy number variations of SMN1, SMN2, NAIP, p44, and H4F5. SMA-I...
Genetic assessment of consecutively recruited dystonia cases from a single center [0.03%]
单一中心连续收治的肌张力障碍病例的基因检测评估
Burcu Atasu,Javier Simón-Sánchez,Ann-Kathrin Hauser et al.
Burcu Atasu et al.
The genetics of dystonia have been extensively investigated in population-based and multicenter cohorts. In this study, we analyzed a consecutively recruited, single-center German dystonia cohort using whole-exome sequencing (n = 153 affect...
Association of the miR-146a rs57095329 polymorphism with susceptibility and clinical phenotypes in Parkinson's disease [0.03%]
miR-146a基因多态性与帕金森病易感性和临床表型的相关性研究
Guangxi Chen,Yawen Zhang,Tao Wang
Guangxi Chen
Objective the study investigated the association of rs57095329 polymorphism with Parkinson's disease (PD) susceptibility, clinical features, and miR-146a expression. Methods in this case-control study (204 PD patients, 218 controls), rs5709...
CRISPR-Cas9-based therapies for Huntington's disease and Friedreich's ataxia: mechanisms, advances, and future perspectives [0.03%]
基于CRISPR-Cas9的亨廷顿病和弗里德reich共济失调治疗：机制、进展与未来展望
Abha Ravikumar Mundada,Amogh Reddy Badikol,Karthik Mangu
Abha Ravikumar Mundada
Huntington's disease (HD) and Friedreich's ataxia (FRDA) are progressive inherited neurodegenerative disorders caused by trinucleotide repeat expansions but characterized by distinct pathogenic mechanisms. HD arises from a coding-region CAG...
Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation [0.03%]
误诊为CIDP的Charcot-Marie-Tooth 4C型的电诊断陷阱及基因确认
Ali Asghar Okhovat,Hamed Shahriyari,Aida Ghasemi et al.
Ali Asghar Okhovat et al.
Background and objective: Charcot-Marie-Tooth disease type 4 C (CMT4C) is a hereditary neuropathy caused by recessive mutations in the SH3TC2 gene. Due to overlapping symptoms with acquired conditions like chronic inflamm...
Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family [0.03%]
IQSEC2 p.Arg867Trp变异的表型扩展及帕什图近亲婚配家系中的结构分析
Muhammad Ayaz,Ibrar Khan,Sheraz Ahmed et al.
Muhammad Ayaz et al.
X-linked Intellectual Disability (XLID) is one of the heterogenous neurodevelopmental disorders caused by a gene defect on the X chromosome. Clinical symptoms of ID are comprised of the disability of adapting to social environments and cogn...