Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case-Series and Literature Review [0.03%]
AFG3L2基因杂合变异患者的表型探索：病例系列和文献综述
Sangeetha Yoganathan,Laura Tochen,Jacky Ganguly et al.
Sangeetha Yoganathan et al.
Background: Variants in AFG3-Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous va...
Sangeetha Yoganathan,Haya S AlFaris,Anika Menetrey et al.
Sangeetha Yoganathan et al.
Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant [0.03%]
Joubert综合征伴新型CPLANE1变异的单侧动眼神经动眼 apraxia 和假性 dystonia
Joo Sung Park,Joo-Yeon Lee,Young Bae Sohn et al.
Joo Sung Park et al.
Mind the Gap: Predictors of Osteoporosis Treatment Following Fragility Fracture in Parkinsonism [0.03%]
谨防差距：帕金森综合征患者脆性骨折后开始接受骨质疏松症治疗的预测因素
Katie C Naylor,Emily J Henderson,Emma Tenison
Katie C Naylor
Background: Fracture risk is increased in Parkinson's yet this risk is often not addressed. Objectives: Our objective was to study the ...
"Doctor I Can't 'Tee' off, but I Can Walk 18 Holes on the Golf Course"-Indicates Orthostatic Tremor [0.03%]
“医生我不会‘打’高尔夫，但我可以走完18个洞”——体位性震颤的表现
Sangeeta Scotton,Francesca Magrinelli,Carla Cordivari et al.
Sangeeta Scotton et al.
Berna Günay,Aylin Küçükali,Kübra Neslihan Kurt Oktay et al.
Berna Günay et al.
Sex Differences in Fall Frequency, Risk Factors, and Outcomes in Parkinson's Disease: A Cross-Sectional Analysis [0.03%]
帕金森病患者跌倒的频率、风险因素和结果的性别差异：横断面分析
Joaquin A Vizcarra,Kat Hefter,David-Erick Lafontant et al.
Joaquin A Vizcarra et al.
Background: Female sex is an independent fall risk factor in Parkinson's disease (PD), yet sex-specific fall patterns remain unclear. Objectives: ...
Daridorexant Treatment for Chronic Insomnia in Restless Legs Syndrome [0.03%]
用于不安腿综合征慢性失眠的Daridorexant治疗
Luca Fernando,Mariana Fernandes,Anna Castelnuovo et al.
Luca Fernando et al.
Background: Insomnia is common in restless legs syndrome (RLS), significantly impairing quality of life. Dual orexin receptor antagonists (DORAs) have demonstrated efficacy in managing insomnia and RLS symptoms. Daridorex...
Homogenous Cell Transplantation Trials in Parkinson's Disease: A Systematic Review and Meta-Analysis [0.03%]
帕金森病自体细胞移植临床试验的系统评价和 meta 分析
Nolan Reinisch,Athena Mancini,Adham Elsherbini et al.
Nolan Reinisch et al.
Background: The transplantation of homogenous cells has emerged as an investigational strategy for Parkinson's disease (PD), offering an alternative to symptomatic treatment. ...
Phenotype-Specific Screening Model for Deep Brain Stimulation in Parkinson's Disease [0.03%]
帕金森病深部脑刺激的表型特异性筛选模型
Sohail R Daulat,Dara Farhadi,Lisa Goudman et al.
Sohail R Daulat et al.
Background: Deep brain stimulation (DBS) is an effective therapy for Parkinson's disease (PD), yet referral for formal DBS evaluation is absent or delayed for many eligible patients. Standard candidacy assessments rely on...