Results 71 to 80 of about 12,949 (169)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Data‐Driven SuStaIn Model of Disability Progression in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To determine whether ordinal Subtype and Stage Inference (SuStaIn) applied to routine ALSFRS‐R item scores can identify reproducible disability progression patterns in amyotrophic lateral sclerosis (ALS) and provide clinically meaningful staging.
Giammarco Milella +5 more
wiley +1 more source
microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan +4 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß +22 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey +52 more
wiley +1 more source
Disentangling the Genetic Relationship Between Sleep and Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le +9 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background While autoimmune encephalitis (AE) outcomes vary, serostatus‐specific prognostic determinants and institutional clustering effects remain poorly characterized. We aimed to delineate the distinct prognostic architecture of AE, identifying serostatus‐specific risk factors and potential therapeutic windows.
Xiaohong Tang +17 more
wiley +1 more source
Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Arthritis Care &Research, EarlyView.Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni +4 more
wiley +1 more source
Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)
Arthritis Care &Research, EarlyView.Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram +25 more
wiley +1 more source