• [¹¹C]PK11195 binding in Alzheimer disease and progressive supranuclear palsy
• [¹⁸F]AV-1451 binding in vivo mirrors the expected distribution of TDP-43 pathology in the semantic variant of primary progressive aphasia
• A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
• A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
• Adjustment of Regional Cortical Thickness Measures for Global Cortical Thickness Obscures Deficits Across the Schizophrenia Spectrum: A Cautionary Note About Normative Modeling of Brain Imaging Data
• Amyloid- beta and tau deposition influences cognitive and functional decline in Down syndrome
• Amyloid- β and tau deposition influences cognitive and functional decline in Down syndrome
• Antibody responses and correlates of protection in the general population after two doses of the ChAdOx1 or BNT162b2 vaccines
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Autoimmune disease and COVID-19: a multicentre observational study in the United Kingdom
• Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
• Biologic therapy in rare eosinophil-associated disorders: remaining questions and translational research opportunities
• Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
• Blood inflammation relates to neuroinflammation and survival in frontotemporal lobar degeneration
• Brain Age Gap in Early Illness Schizophrenia and the Clinical High-Risk Syndrome: Associations With Experiential Negative Symptoms and Conversion to Psychosis
• Brain-predicted age in Down syndrome is associated with beta amyloid deposition and cognitive decline
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
• Clinical and genetic aspects of KBG syndrome
• Clinical and molecular consequences of disease-associated de novo mutations in SATB2
• Comparisons of three nicotine dependence scales in a multiethnic sample of young adult menthol and non-menthol smokers
• Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
• Cortical atrophy and amyloid and tau deposition in Down syndrome: A longitudinal study
• De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
• De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability
• Deficits in auditory predictive coding in individuals with the psychosis risk syndrome: Prediction of conversion to psychosis
• Delineating the topography of amyloid-associated cortical atrophy in Down syndrome
• Detection of Atherosclerotic Inflammation by ⁶⁸Ga-DOTATATE PET Compared to [¹⁸F]FDG PET Imaging
• Diabetes detection in women with gestational diabetes and polycystic ovarian syndrome
• Differential effects of Down's syndrome and Alzheimer's neuropathology on default mode connectivity
• Differential Synaptic Loss in beta-Amyloid Positive Versus beta-Amyloid Negative Corticobasal Syndrome
• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
• Dynamic functional connectivity impairments in early schizophrenia and clinical high-risk for psychosis
• Effectiveness of osteopathic manipulative therapy for managing symptoms of irritable bowel syndrome: a systematic review
• Expanded Clinical Phenotype, Oncological Associations, and Immunopathologic Insights of Paraneoplastic Kelch-like Protein-11 Encephalitis
• Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
• Flu-like and Other Systemic Drug Reactions Among Persons Receiving Weekly Rifapentine Plus Isoniazid or Daily Isoniazid for Treatment of Latent Tuberculosis Infection in the PREVENT Tuberculosis Study
• Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
• Genomic reconstruction of the SARS-CoV-2 epidemic in England
• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
• Heterozygous loss-of-function <em>SMC3</em> variants are associated with variable and incompletely penetrant growth and developmental features
• Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
• Identifying functional network changing patterns in individuals at clinical high-risk for psychosis and patients with early illness schizophrenia: A group ICA study
• In vivo coupling of dendritic complexity with presynaptic density in primary tauopathies
• Insulin increases sensory nerve density and reflex bronchoconstriction in obese mice
• Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome
• Investigating cortisol excess or deficiency: a practical approach
• Investigation of hospital discharge cases and SARS-CoV-2 introduction into Lothian care homes
• Investigation of polycystic ovarian syndrome: variation in practice and impact on the speed of diagnosis
• Long-term stability, reproducibility, and statistical sensitivity of a telemetry-instrumented dog model: A 27-month longitudinal assessment
• Longitudinal Synaptic Loss in Primary Tauopathies: An In Vivo [¹¹ C]UCB-J Positron Emission Tomography Study
• Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report
• Lupus causing small bowel obstruction
• Measuring cerebral perfusion with [(11)C]-PiB R1 in Down syndrome: associations with amyloid burden and longitudinal cognitive decline
• Measuring cerebral perfusion with [¹¹C]-PiB R1 in Down syndrome: associations with amyloid burden and longitudinal cognitive decline
• Microglial activation in the frontal cortex predicts cognitive decline in frontotemporal dementia
• Microtubule-associated protein 1B: Novel paraneoplastic biomarker
• Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
• Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features
• Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options
• Modelling the impact of the mandatory use of face coverings on public transport and in retail outlets in the UK on COVID-19-related infections, hospital admissions and mortality
• Molecular pathology and synaptic loss in primary tauopathies: an 18F-AV-1451 and 11C-UCB-J PET study
• Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
• Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
• Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
• Neuroinflammation and protein aggregation co-localize across the frontotemporal dementia spectrum
• Neuroinflammation and Tau Colocalize in vivo in Progressive Supranuclear Palsy
• Neuroinflammation predicts disease progression in progressive supranuclear palsy
• Not all <em>SCN1A</em> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology
• Phenotype and genotype in Nicolaides-Baraitser syndrome
• Polycystic ovarian syndrome: Assessment of approaches to diagnosis and cardiometabolic monitoring in UK primary care
• Polycystic ovarian syndrome: Social situation influences outcome
• Prevalence of persistent SARS-CoV-2 in a large community surveillance study
• Recurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological?
• Reduced Amplitude of Low-Frequency Brain Oscillations in the Psychosis Risk Syndrome and Early Illness Schizophrenia
• Relationship Between Anemia and Mortality Outcomes in a National Acute Coronary Syndrome Cohort: Insights From the UK Myocardial Ischemia National Audit Project Registry
• Reversible cerebral vasoconstriction syndrome in children: an update
• Reversible Cerebral Vasoconstriction Syndrome in Pediatrics: A Case Series and Review
• Scope of occupational therapy practice for adults with both Down syndrome and dementia: A cross-sectional survey
• Support vector machine learning and diffusion-derived structural networks predict amyloid quantity and cognition in adults with Down's syndrome
• Symptoms and Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Positivity in the General Population in the United Kingdom
• Synaptic density affects clinical severity via network dysfunction in syndromes associated with frontotemporal lobar degeneration
• Synaptic Loss in Primary Tauopathies Revealed by [¹¹ C]UCB-J Positron Emission Tomography
• Thalamic dysconnectivity in the psychosis risk syndrome and early illness schizophrenia
• The Down syndrome brain in the presence and absence of fibrillar beta-amyloidosis
• The Down syndrome brain in the presence and absence of fibrillar β-amyloidosis
• The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
• The pattern of amyloid accumulation in the brains of adults with Down syndrome
• The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
• Use of an extended KDIGO definition to diagnose acute kidney injury in patients with COVID-19: A multinational study using the ISARIC-WHO clinical characterisation protocol
• Visual memory failure presages conversion to MELAS phenotype
• Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings
• Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype