Results 111 to 120 of about 856,702 (253)

Schizophrenia Genetics Modulates Clinical Depressive Features

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti   +13 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone   +8 more
wiley   +1 more source

Toward Harmonizing Quantification of Dopamine Neuron Imaging Biomarkers in Parkinson's Disease: The Centamine Scale

open access: yesAnnals of Neurology, EarlyView.
Objective Dopaminergic imaging is a key biomarker for both the investigation of the biology of Parkinson's disease and related synucleinopathies and the evaluation of potential therapies in clinical trials. This work presents a harmonized approach for quantifying dopaminergic molecular imaging tracers, such as [123I]ioflupane (dopamine transporter scan
Zhen Fan   +174 more
wiley   +1 more source

Human Brain Contusions Contain Pathogenic Transmissible Species that Induce Progressive Cognitive Decline and Tau Pathology in Mice

open access: yesAnnals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) is an established risk factor for dementia, although the underlying mechanisms remain unclear. Our previous research demonstrated that a single severe TBI in wild‐type (WT) mice induces a prion‐like form of tau (tauTBI) that spreads throughout the brain, leading to memory deficits.
Gloria Vegliante   +19 more
wiley   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

open access: yesAnnals of Neurology, EarlyView.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt   +82 more
wiley   +1 more source

Milan

open access: yes, 2020
Maranghi, Elena, Cognetti, Francesca
openaire   +4 more sources

Comparative cranial biomechanics reveal macroevolutionary trends in theropod dinosaurs, with emphasis on Tyrannosauroidea

open access: yesThe Anatomical Record, EarlyView.
Abstract Tyrannosaurus is viewed as a model organism in vertebrate paleontology, with numerous studies analyzing its feeding biomechanics. Nonetheless, the evolution of this feeding performance has been under‐addressed in Tyrannosauroidea, especially in basal tyrannosauroids. Here we used muscle‐force reconstruction and finite element analysis (FEA) to
Evan Johnson‐Ransom   +4 more
wiley   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

open access: yesArthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian   +111 more
wiley   +1 more source

Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study

open access: yesArthritis &Rheumatology, EarlyView.
Objective The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Methods This multicenter international study includes patients with VEXAS from France, Israel, and Italy treated with ...
Tali Eviatar   +35 more
wiley   +1 more source

Tofacitinib for the Treatment of Juvenile Idiopathic Arthritis: Patient‐Reported Outcomes in a Phase 3, Randomized, Double‐Blind, Placebo‐Controlled Withdrawal Trial

open access: yesArthritis &Rheumatology, EarlyView.
Objective Juvenile idiopathic arthritis (JIA) is associated with impaired overall health‐related quality of life (HRQoL). We evaluated the impact of tofacitinib on patient‐reported outcomes (PROs) in patients with JIA. Methods This was a post hoc analysis of a phase 3, randomized, double‐blind, placebo‐controlled withdrawal trial (NCT02592434) in ...
Hermine I. Brunner   +21 more
wiley   +1 more source

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