Disease: Kennedy disease
- 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
- A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
- A Proposed Functional Analysis of Transmission Prevention Behaviors for a Respiratory Virus (SARS-CoV-2)
- A time-resolved single-cell roadmap of the logic driving anterior neural crest diversification from neural border to migration stages
- An update on endometriosis biomarkers
- Anxiety and school avoidance in an 8-year-old child with epilepsy
- Approach to the patient: Concept and application of targeted radiotherapy in the paraganglioma patient
- Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study
- Blimp-1 and c-Maf regulate immune gene networks to protect against distinct pathways of pathobiont-induced colitis
- CAHQL: A patient reported outcome instrument to assess health-related quality of life in congenital adrenal hyperplasia
- Carotid intimamedia thickness in patients with severe hypertriglyceridemia
- Changes in Compliance with Bans on Tobacco Product Display and Advertising at Traditional and Modern Point-of-Sale Retailers in Depok, Indonesia, 2019-2021
- Chitin-induced disease resistance in plants: A review
- Cis-regulatory interfaces reveal the molecular mechanisms underlying the notochord gene regulatory network of Ciona
- Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
- Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
- Clinical gait analysis using video-based pose estimation: Multiple perspectives, clinical populations, and measuring change
- Comparison of Long-Term Postoperative Outcomes of the Subtypes of Chronic Rhinosinusitis with Nasal Polyps
- Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
- Contemporary approach to cardiogenic shock care: a state-of-the-art review
- Continuous Levodopa Delivery with an Intraoral Micropump System: An Open-Label Pharmacokinetics and Clinical Study
- Correlation Between Pituitary Adenoma Surgery and Anxiety Disorder: Systematic Review and Meta-Analysis
- Correlation of patient reported outcome measures with endoscopic findings in pediatric chronic adenoiditis and chronic rhinosinusitis
- Cyclic Ion Mobility-Mass Spectrometry and Tandem Collision Induced Unfolding for Quantification of Elusive Protein Biomarkers
- Decoding viral infections and risk for asthma: Biomarkers or clinical histories?
- Defining predictors of responsiveness to advanced therapies in Crohn's disease and ulcerative colitis: protocol for the IBD-RESPONSE and nested CD-metaRESPONSE prospective, multicentre, observational cohort study in precision medicine
- Discovery and Verification of Sjögren's Syndrome Protein Biomarkers in Tears by Targeted LC-MRM
- Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation
- Ductular Reactions in Liver Injury, Regeneration, and Disease Progression-An Overview
- Educational experiences of U.S. children during the 2020-2021 school year in the context of the COVID-19 pandemic
- Endothelial NOX5 Obliterates the Reno-Protective Effect of Nox4 Deletion by Promoting Renal Fibrosis via Activation of EMT and ROS-Sensitive Pathways in Diabetes
- Enhanced peer-group strategies to support the prevention of mother-to-child HIV transmission leads to increased retention in care in Uganda: A randomized controlled trial
- Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
- Exploring neurodegenerative disorders using advanced magnetic resonance imaging of the glymphatic system
- Extending social accountability mandates to biomedical research in Canadian faculties of medicine
- Extent of Resection and Long-Term Outcomes for Appendiceal Adenocarcinoma: a SEER Database Analysis of Mucinous and non-Mucinous Histologies
- Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial
- Fibroblast Growth Factor 19 in Alcohol-Associated Liver Disease: Bile Acids and Dysbiosis and Inflammation, Oh My!
- First reported case in an Irish flock of MCF- like systemic necrotizing vasculitis in sheep associated with ovine herpesvirus 2
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
- Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2
- How comparable are patient outcomes in the "real-world" with populations studied in pivotal AML trials?
- IL-23 past, present, and future: a roadmap to advancing IL-23 science and therapy
- Improving Communication with Family Members during a Global Pandemic: Effect on Patient Experience
- Increased excitability of dentate gyrus mossy cells occurs early in life in the Tg2576 model of Alzheimer's disease
- Influence of Eat, Sleep, and Console on Infants Pharmacologically Treated for Opioid Withdrawal: A Post Hoc Subgroup Analysis of the ESC-NOW Randomized Clinical Trial
- Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder
- Investigation of the impact of thirdhand e-cigarette exposure on platelet function: A pre-clinical study
- Junk food use and neurodevelopmental and growth outcomes in infants in low-resource settings
- Koori Quit Pack: A feasibility study of a multi-component mailout smoking cessation support for Aboriginal and Torres Strait Islander people: "I would recommend it to anybody. It's just so much easier"
- Long-term Efficacy and Safety of Elamipretide in Patients with Barth Syndrome: 168-Week Open-label Extension Results of TAZPOWER
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
- Making Clinical Data Acquisition Standards Harmonization (CDASH) Electronic Case Report Forms Available on the REDCap Shared Data Instrument Library
- Mechanisms and management of loss of response to anti-TNF therapy for patients with Crohn's disease: 3-year data from the prospective, multicentre PANTS cohort study
- Neutrophil-mediated innate immune resistance to bacterial pneumonia is dependent on Tet2 function
- Next questions in autophagy
- Novel Insights into the Pathobiology of Pulmonary Hypertension in Heart Failure with Preserved Ejection Fraction
- Pathophysiology of Eosinophilic Esophagitis
- Patterns and predictors of tooth loss among partially dentate individuals in Jordan: A cross-sectional study
- Perceived Negative Effects of Tic Management Strategies in Adults With Tic Disorders
- Perspective: Nutrition Health Disparities Framework: A Model to Advance Health Equity
- Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration
- Postnasal Drip
- Pre-exposure prophylaxis (PrEP) knowledge, use, and discontinuation among Lake Victoria fisherfolk in Uganda: a cross-sectional population-based study
- Predictors of anastomotic leak and conduit necrosis after oesophagectomy: Results from the oesophago-gastric anastomosis audit (OGAA)
- Proteoform Analysis of the Human Olfactory System: A Window into Neurodegenerative Diseases
- Protocol for the Adolescent Menstrual Experiences and Health Cohort (AMEHC) Study in Khulna, Bangladesh: A Prospective cohort to quantify the influence of menstrual health on adolescent girls' health and education outcomes
- Psychological wellbeing among parents of a child living with a serious chronic illness: A cross-sectional survey study
- Recurrence and Survival after Minimally Invasive and Open Esophagectomy for Esophageal Cancer - A Post Hoc Analysis of the Ensure Study
- Repeat expansions in <em>AR</em>, <em>ATXN1</em>, <em>ATXN2</em> and <em>HTT</em> in Norwegian patients diagnosed with amyotrophic lateral sclerosis
- Risk Factors and Modifiers for Cardiovascular Disease Assessment of Patients with Heterozygous Familial Hypercholesterolaemia
- Risk factors for asthma-related hospital and intensive care admissions in children, adolescents and adults: a cohort study using primary and secondary care data
- Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial
- Safety and pharmacokinetics of oral and long-acting injectable cabotegravir or long-acting injectable rilpivirine in virologically suppressed adolescents with HIV (IMPAACT 2017/MOCHA): a phase 1/2, multicentre, open-label, non-comparative, dose-finding st
- Safety of low weight gain or weight loss in pregnancies with class 1, 2, and 3 obesity: a population-based cohort study
- Sensorimotor regulation of facial expression - an untouched frontier
- Sex differences in the extent of acute axonal pathologies after experimental concussion
- Sex-related differences in oncologic outcomes, operative complications and health-related quality of life after curative-intent oesophageal cancer treatment: multicentre retrospective analysis
- Shear wave elastography to assess stiffness of the human ovary and other reproductive tissues across the reproductive lifespan in health and disease
- Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain
- SKA2 regulated hyperactive secretory autophagy drives neuroinflammation-induced neurodegeneration
- Society of Radiologists in Ultrasound Consensus on Routine Pelvic US for Endometriosis
- Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors
- Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
- Stiffness Mediated-Mechanosensation of Airway Smooth Muscle Cells on Linear Stiffness Gradient Hydrogels
- The effect of sodium-glucose cotransporter-2 inhibitors on inflammatory biomarkers: A meta-analysis of randomized controlled trials
- The Legionella pneumophila effector DenR hijacks the host NRas proto-oncoprotein to downregulate MAPK signaling
- The ratting of North America: A 350-year retrospective on <em>Rattus</em> species compositions and competition
- The Role of Mental Health Conditions in Early Detection and Treatment of Veterans With Alzheimer's Dementia
- The role of quality of life data as an endpoint for collecting real-world evidence within geroscience clinical trials
- The TNFSF12/TWEAK Modulates Colonic Inflammatory Fibroblast Differentiation and Promotes Fibroblast-Monocyte Interactions
- The value of neck adipose tissue as a predictor for metabolic risk in health and type 2 diabetes
- Tinnitus in Children
- TNFR2 signalling in inflammatory diseases
- Vaginal and Rectal microbiome changes following administration of a multi-species antenatal probiotic: A randomized control trial
- When less is more: Updates in active surveillance and watchful waiting in the management of prostate cancer
- When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population
- Xpert MTB/RIF Ultra versus mycobacterial growth indicator tube liquid culture for detection of Mycobacterium tuberculosis in symptomatic adults: a diagnostic accuracy study
- γ-Aminobutyric acid transporter and GABA<sub>A</sub> receptor mechanisms in <em>Slc6a1<sup>+/A288V</sup></em> and <em>Slc6a1<sup>+/S295L</sup></em> mice associated with developmental and epilepti