Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Adhesion molecules provide an endothelial protein signature in preclinical and clinical Alzheimer's disease and predict clinical progression. [PDF]
Hajjar IM +6 more
europepmc +1 more source
Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird +9 more
wiley +1 more source
Natural compounds targeting inflammatory signaling and cell adhesion molecules in ischemic acute kidney injury. [PDF]
Fahim SA +10 more
europepmc +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
A decade of progress in understanding LRRTM and Slitrk synaptic cell-adhesion molecules. [PDF]
Kim D, Kim B, Um JW, Ko J.
europepmc +1 more source
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis +77 more
wiley +1 more source
Hypoxia-Driven Pulmonary Adaptation in the Yak: A Homeostatic Mechanism Mediated by Cell Adhesion Molecules. [PDF]
Wang H +6 more
europepmc +1 more source
Objective We assessed the effectiveness of PrismRA to improve clinical outcomes among patients with rheumatoid arthritis (RA) initiating treatment with a biologic or targeted synthetic disease‐modifying antirheumatic drug (b/tsDMARD). Methods PrismRA incorporated 19 gene expression features and four clinical features to assess a patient's likelihood of
Fenglong Xie +3 more
wiley +1 more source
Perturbed synaptic adhesion molecules signaling in neurodevelopmental disorders: The impact of metal neurotoxicity. [PDF]
Oyerinde TO +7 more
europepmc +1 more source

