Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in CSF1R-Related Disorder [0.03%]
CSF1R相关疾病中CSF神经丝轻链和酸性胶质纤维蛋白的候选生物标志物研究
Xavier Ayrignac,Cecilia Marelli,Sylvain Lehmann et al.
Xavier Ayrignac et al.
Background and objectives: Colony-stimulating factor receptor 1-related disorder (CSF1R-RD) is an underrecognized, adult-onset genetic leukodystrophy with a devastating clinical course. Disease monitoring is critical as p...
Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay [0.03%]
SARM1缺失能改善查尔维克斯-萨格奈自毁容貌性小脑萎缩症小鼠模型的表型
Papa Serigne Ndiaye,Sharan Paul,Guoli Zhao et al.
Papa Serigne Ndiaye et al.
Background and objectives: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease caused by pathogenic variants in SACS. ARSACS is characterized by mitochondrial abnormalities an...
Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series [0.03%]
FHL1突变型进展迅速且严重的女性患者中的肌病减症研究——类炎性肌病案例系列报告
Gianmarco Severa,Christine Barnerias,Cyril Gitiaux et al.
Gianmarco Severa et al.
Background and objectives: Reducing body myopathy (RBM) is a rare inherited disorder, due to pathogenic variant in the FHL1 gene. The disease is characterized by protein aggregates in myocytes strongly stained with menadi...
HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients [0.03%]
与HSD17B4相关的疾病：成人发病患者表型的确定
Grazia Maria Igea Falcone,Alessandra Tessa,Cristiano Rizzo et al.
Grazia Maria Igea Falcone et al.
Objectives: Biallelic variants in HSD17B4 cause D-bifunctional protein (DBP) deficiency, a disorder of peroxisomal fatty acid β-oxidation initially associated with a neonatal phenotype and early lethality. Recently, than...
Gene Expression Profiles at Early vs Late Stages After Cervical Artery Dissection [0.03%]
早期与晚期颈椎动脉夹层的基因表达特征分析
Robert B Ferguson,Ilana E Green,Timothy L Mcmurry et al.
Robert B Ferguson et al.
Background and objectives: Cervical artery dissection (CeAD) is a common cause of stroke in young adults. While the pathogenesis of CeAD remains poorly understood, clinical and genetic associations suggest a systemic arte...
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings [0.03%]
COA7复合杂合变异致两名兄弟姐妹的儿童期起病性运动神经元病
Gianpaolo Cicala,Elisa Rolleri,Beatrice Berti et al.
Gianpaolo Cicala et al.
Objectives: Variants in COA7 (cytochrome c oxidase assembly factor 7) are a rare cause of mitochondrial disease, with limited clinical descriptions and phenotypic variability. We describe 2 siblings carrying compound hete...
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report [0.03%]
维生素E缺乏共济失调综合征伴新型TTPA变异的病例报告
Giacomo Baso,Francesca Magri,Monica Sciacco et al.
Giacomo Baso et al.
Objectives: Ataxia with vitamin E deficiency (AVED) is a chronic progressive syndrome with low vitamin E levels, caused by biallelic pathogenic variants in the alpha-tocopherol transfer protein (TTPA) gene on chromosome 8...
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy [0.03%]
儿童外显子组测序在癫痫患儿中的诊断价值：1109名癫痫儿童的临床经验
Fan Wu,Xinna Ji,Peidi Cheng et al.
Fan Wu et al.
Background and objectives: Genetic testing has emerged as a transformative tool for the diagnosis and treatment of epilepsy. The aim of this study was to characterize the genetic basis of pediatric epilepsy. ...
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change [0.03%]
成人遗传检测的临床线索及其在晚期行为改变中的诊断价值
Joan Groeneveld,Sterre C M de Boer,Welmoed Krudop et al.
Joan Groeneveld et al.
Background and objectives: The diagnosis of behavioral variant frontotemporal dementia is often difficult because behavioral change has a broad differential diagnosis. Genetic testing may aid in the diagnostic process. We...
Diagnosis of Frontotemporal Dementia in Individuals With Late-Onset Behavioral Changes: Importance of Genetic Counseling [0.03%]
遗传咨询在诊断具有晚期行为改变的个体额颞叶痴呆中的作用
David John Irwin
David John Irwin