Toward Trial Readiness in Congenital Myotonic Dystrophy: A Longitudinal Cohort Study of Predictors of Motor Function in Childhood [0.03%]
儿童肌张力不全性肌肉营养不良运动功能预测因素的纵向队列研究——迈向临床试验准备阶段的研究
Michael Kiefer,Julia M Hartman,Kiera N Berggren et al.
Michael Kiefer et al.
Background and objectives: Congenital myotonic dystrophy (CDM) is a life-limiting genetic disorder present at birth, marked by profound motor and cognitive impairments. CDM is the most severe form of myotonic dystrophy ty...
Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL [0.03%]
CTSA相关小血管病（CARASAL）的临床影像表型扩大及其与CADASIL的比较
Minne N Cerfontaine,Gido Gravesteijn,Remco J Hack et al.
Minne N Cerfontaine et al.
Background and objectives: Genetic small vessel diseases (SVDs) are associated with early onset of stroke and dementia. Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) is an extremely rare ...
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome [0.03%]
罕见病的临床试验设计：脆性X综合征药物干预有效性的回顾性研究
Adam Van Steenbergen,Manpreet Kaur,Keneizha Rubanarayana et al.
Adam Van Steenbergen et al.
Purpose of review: Rare disorders (RDs) collectively affect a substantial proportion of the population, yet most lack clinically approved, mechanistically targeted therapies. Fragile X syndrome (FXS), the most common inhe...
Alessandra Rocco,Christian Laurini,Yuri Matteo Falzone et al.
Alessandra Rocco et al.
Objectives: The AFG3L2 gene encodes a mitochondrial AAA-protease involved in inner mitochondrial membrane (IMM) proteostasis. Heterozygous variants in the AFG3L2 proteolytic domain cause Spinocerebellar Ataxia type 28, he...
The Genetics of TDP-43 Type C Neurodegeneration: A Whole-Genome Sequencing Study and Literature Review [0.03%]
TDP-43型C神经退行性疾病的遗传学研究：全基因组测序及文献综述
Malik Nassan,Ivan Ayala,Jennifer Sloan et al.
Malik Nassan et al.
Background and objectives: Frontotemporal lobar degeneration TDP43 type C (TDP-C) is a rare and unique neurodegenerative disease that attacks the anterior temporal lobe. Recently, it was shown that Annexin-A11 and TDP-43 ...
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1 [0.03%]
神经纤维瘤病1型患者监测中~(18)F-FDG PET/CT的临床价值评估
Maria Gabriela Tanase,Lina Djilani,Remy Lamontagne et al.
Maria Gabriela Tanase et al.
Background and objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that predisposes affected individuals to benign and malignant tumors throughout their lifetime. Early detection of those lesions ...
Nav1.8 Variant I206M as a Latent Susceptibility Factor in Postaxotomy Ocular Pain [0.03%]
Nav1.8变异I206M作为术后眼痛的潜在易感因素
Mohammad-Reza Ghovanloo,Philip R Effraim,Sidharth Tyagi et al.
Mohammad-Reza Ghovanloo et al.
Background and objectives: A small proportion of patients develop persistent ocular pain after corneal refractive surgery, which injures the distal axons of trigeminal ganglia neurons innervating the eye. In this study, w...
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period [0.03%]
英国先天性肌病和肌肉萎缩患者在十年间的基因图谱与诊断结果变迁
Gianpaolo Cicala,Jo Mccauley,Rahul Phadke et al.
Gianpaolo Cicala et al.
Background and objectives: Congenital myopathies (CMYOs) and congenital muscular dystrophies (CMDs) are rare, clinically and genetically heterogeneous neuromuscular conditions characterized by muscle weakness, usually wit...
Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ [0.03%]
新型的ALS相关KIF5A变异体c.2993-6C>A对第27外显子剪接和SFPQ轴浆运输的影响
Guy A Rouleau,Ziqi Yu,Jay P Ross et al.
Guy A Rouleau et al.
Background and objectives: Recent studies have identified variants in the kinesin family member 5A (KIF5A) gene that predispose to amyotrophic lateral sclerosis (ALS). These ALS-linked KIF5A variants lead to the exclusion...
Sex-Based Differences in Disease Burden and Phenotype in CADASIL: A Multicenter Study of 368 Korean Patients [0.03%]
韩国多中心CADASIL患者队列中的性别差异：368例患者的疾病负担和表型特征分析
Joong-Goo Kim,Jay Chol Choi,Chul-Hoo Kang et al.
Joong-Goo Kim et al.
Background and objectives: Previous studies have reported mixed findings regarding sex differences in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with some indicat...