• A disease similarity approach identifies short-lived Niemann-Pick type C disease mice with accelerated brain aging as a novel mouse model for Alzheimer's disease and aging research
• A novel immunoassay technique using principal component analysis for enhanced detection of emerging viral variants
• A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C
• A rare case of Niemann Pick Disease with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age
• A Rare Case of Niemann-Pick Disease Type-A
• A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
• A Retrospective Analysis of Breast Cancer Presentation Among Young and Older Women in an Indian Cohort of 70 Patients
• A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
• Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
• Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease
• Acid sphingomyelinase deficiency in France: a retrospective survival study
• Adjuvant Gemcitabine Plus Cisplatin and Chemoradiation in Patients With Gallbladder Cancer: A Randomized Clinical Trial
• Alectinib vs. Lorlatinib in the Front-Line Setting for ALK-Rearranged Non-Small-Cell Lung Cancer (NSCLC): A Deep Dive into the Main Differences across ALEX and CROWN Phase 3 Trials
• Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis
• Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease
• Analysis of Metabolic Changes in Endogenous Metabolites and Diagnostic Biomarkers for Various Diseases Using Liquid Chromatography and Mass Spectrometry
• Animal Models of Osteoarthritis: Updated Models and Outcome Measures 2016-2023
• Antennal transcriptome analysis reveals sensory receptors potentially associated with host detection in the livestock pest Lucilia cuprina
• Association of genetic variations of 3'-UTR in clopidogrel pharmacokinetic-relevant genes with clopidogrel response in Han Chinese patients with coronary artery disease
• Association of lipid-lowering drug targets with risk of cutaneous melanoma: a mendelian randomization study
• Association of lipid-lowering drugs with gut microbiota: A Mendelian randomization study
• Association of Pick's disease with the MAPT H2 haplotype
• Associations of Dietary Cholesterol Consumption With Incident Diabetes and Cardiovascular Disease: The Role of Genetic Variability in Cholesterol Absorption and Disease Predisposition
• Beyond pulmonary rehabilitation: can the PICk UP programme fill the gap? A randomised trial in COPD
• Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B
• Blockade of STARD3-mediated cholesterol transport alleviates diabetes-induced podocyte injury by reducing mitochondrial cholesterol accumulation
• Blood Cancer Network Ireland (BCNI) and National Cancer Registry Ireland (NCRI) collaboration: challenges and utility of an Enhanced Blood Cancer Outcomes Registry (EBCOR) pilot
• Brain Organoids: A Game-Changer for Drug Testing
• Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing
• CffDNA screening for Niemann-pick disease, type C1: a case series
• Chloride Homeostasis Regulates cGAS-STING Signaling
• Chronic and Latent Viral Infections and Leukocyte Telomere Length across the Lifespan of Female and Male Individuals Living with or without HIV
• Chronic Kidney Disease and Charcot Neuro-Osteoarthropathy of Foot in Diabetes
• Clinical and morphologic characterization of Pick's dementia: case report and review of the literature
• Clinical evaluation and determinants of response to HBI0101 (BCMA CART) therapy in relapsed/refractory multiple myeloma
• Clinician Specialty and HIV PrEP Prescription Reversals and Abandonments
• Comparing automated surveillance systems for detection of pathogen-related clusters in healthcare settings
• Corrigendum to "Pharmacokinetics and efficacy of PT302, a sustained-release Exenatide formulation, in a murine model of mild traumatic brain injury" [Neurobiology of Disease Volume 124 (2019) 439-453 /YNBDI_4338]
• CRISPR/Cas9 technology in the modeling of and evaluation of possible treatments for Niemann-Pick C
• DeepComBat: A statistically motivated, hyperparameter-robust, deep learning approach to harmonization of neuroimaging data
• Determinants of hemoglobin level and time to default from Highly Active Antiretroviral Therapy (HAART) for adult clients living with HIV under treatment; a retrospective cohort study design
• Determinants of sub-optimal glycemic control among patients enrolled in a medicine dispensing programme in KwaZulu-Natal: A cohort study, 2018-2021
• Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
• Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
• Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• Duo-Chol: A Photoconvertible Live Cell Imaging Tool for Tracking Cholesterol
• Efficient breeding system of infertile Niemann-Pick disease type C model mice by in vitro fertilization and embryo transfer
• Electroencephalographic and Behavioral Effects of Intranasal Administration of a Na⁺, K⁺-ATPase-Activating Antibody after Status Epilepticus
• Elevated Bile Acid 3beta,5alpha,6beta-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C
• Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex
• Evaluation of the Genetic Background of Patients with Niemann-Pick Disease
• Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC)
• Evidence further linking the intestine to cardiovascular disease
• Exploring Sense of Purpose and Conscientiousness as Correlates to Health and Well-Being With Indigenous and Low Socioeconomic Communities on Coast Salish Territories, Vancouver, Canada
• First report of anthracnose of <em>Lithocarpus polystachyus</em> caused by <em>Colletotrichum fructicola</em> in China
• Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
• Frontotemporal lobar degeneration in the "Annual of the Pathological Autopsy Cases in Japan"
• G272V and P301L Mutations Induce Isoform Specific Tau Mislocalization to Dendritic Spines and Synaptic Dysfunctions in Cellular Models of 3R and 4R Tau Frontotemporal Dementia
• GESUCHT: ASMD (Acid Sphingomyelinase Defiency) Typ-B (vormals Nieman Pick B)
• Greater mobile device-prompted phone pickups are associated with daily parent stress
• Identifying allergic-rhinitis-associated genes with random-walk-based method in PPI network
• Intracerebroventricular 2-hydroxypropyl-gamma-cyclodextrin alleviates hepatic manifestations without distributing to the liver in a murine model of Niemann-Pick disease type C
• Investigating the effectiveness of web-based HIV self-test distribution and linkage to HIV treatment and PrEP among groups at elevated risk of HIV in Viet Nam provinces: a mixed-methods analysis of implementation from pilot to scale-up
• iPSC-induced neurons with the V337M MAPT mutation are selectively vulnerable to caspase-mediated cleavage of tau and apoptotic cell death
• MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
• Neuropeptide FF (NPFF)-positive nerve cells of the human cerebral cortex and white matter in controls, selected neurodegenerative diseases, and schizophrenia
• Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child
• Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C
• Oligodendrocyte Dysfunction in Tauopathy: A Less Explored Area in Tau-Mediated Neurodegeneration
• Optimization of systemic AAV9 gene therapy in Niemann-Pick disease type C1 mice
• ORMDL mislocalization by impaired autophagy in Niemann-Pick type C disease leads to increased de novo sphingolipid biosynthesis
• Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches
• Pick a PACC: Comparing domain-specific and general cognitive composites in Alzheimer disease research
• Pick's Disease Presenting as Tremulous Parkinsonism with Limited Levodopa Response-A Rare Cause of Corticobasal Syndrome
• PLA2G15 is a Lysosomal BMP Hydrolase with Ester Position Specificity and its Targeting Ameliorates Lysosomal Disease
• Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder
• Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function
• Randomized Phase II Trial of Immunotherapy-Based Total Neoadjuvant Therapy for Proficient Mismatch Repair or Microsatellite Stable Locally Advanced Rectal Cancer (TORCH)
• Rapidly reversible persistent long-term potentiation inhibition by patient-derived brain tau and amyloid ss proteins
• Ratiometric fluorescence nanoscopy and lifetime imaging of novel Nile Red analogs for analysis of membrane packing in living cells
• Recent and anticipated novel drug approvals (Q2 2024 through Q1 2025)
• Redesigning Pharmacy to Improve Public Health Outcomes: Expanding Retail Spaces for Digital Therapeutics to Replace Consumer Products That Increase Mortality and Morbidity Risks
• Resolution of Stubborn Monkeypox With Tecovirimat in an HIV Patient
• Role of 2-(fluorine-18) Fluoro-2-deoxy-D-glucose Positron Emission Tomography/Computed Tomography in Initial Staging and Bone Marrow Involvement Prediction in Patients with Newly Diagnosed Lymphoma in Correlation with Bone Marrow Study
• Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature
• S-Adenosyl-l-methionine restores brain mitochondrial membrane fluidity and GSH content improving Niemann-Pick type C disease
• Screening for the vulnerable aorta: targeting high-risk groups in the population
• Solving the puzzle of 2-hydroxypropyl β-cyclodextrin: Detailed assignment of the substituent distribution by NMR spectroscopy
• Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
• Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
• Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models
• Tau protein profiling in tauopathies: a human brain study
• The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases
• The impact of SARS-CoV-2 mRNA vaccine on intracytoplasmic sperm injection outcomes at a fertility center in Iraq: A prospective cohort study
• The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
• Therapeutic insights: Use of ceftazidime-avibactam in pediatric patients
• Trending ticks: using Google Trends data to understand tickborne disease prevention
• Unraveling the Connection: Cholesterol, Calcium Signaling, and Neurodegeneration
• Upregulation of NPC1 and its association with poor prognosis in gastric cancer