Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Reproductive and Developmental Toxicity of Environmental Chemicals: From Mechanisms to Population Evidence. [PDF]
ToxicsZhang J, Nie J, Chen T.
europepmc +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
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity. [PDF]
J Biochem Mol ToxicolShukla AK +3 more
europepmc +1 more source
Dolutegravir developmental toxicity is mitigated by magnesium and folate in zebrafish embryos. [PDF]
Dis Model MechCabrera RM +4 more
europepmc +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
Developmental toxicity and physicochemical characterization of cisplatin-loaded ginger oil nanoemulsion in casper zebrafish. [PDF]
Front ToxicolSravani ANKV, Thomas J.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective To evaluate whether extending the American College of Rheumatology–recommended monitoring interval for complete blood count and liver function tests in patients receiving methotrexate (MTX) affects timely detection of medication‐related toxicity.
Spencer Simko +4 more
wiley +1 more source