• A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases
• A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism
• A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation
• A New Case of Schindler Disease
• A new infantile case of alpha-N-acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom
• A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity
• Abemaciclib restricts HCMV replication by suppressing pUL97-mediated phosphorylation of SAMHD1
• Apolipoprotein E O-glycosylation is associated with amyloid plaques and APOE genotype
• Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease
• Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I
• Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
• BISCIT: Biliary interventions in critically ill patients with secondary sclerosing cholangitis-a study protocol for a multicenter, randomized, controlled parallel group trial
• Blood-based biomarkers for Alzheimer's disease: Current state and future use in a transformed global healthcare landscape
• Calcitonin Gene-Related Peptide Monoclonal Antibodies and Risk of SARS-CoV-2 Infection and Severe COVID-19 Outcomes Among Veterans With Migraine Disorder
• Cerebrospinal fluid biomarkers in the Longitudinal Early-onset Alzheimer's Disease Study
• Clarithromycin-based Helicobacter pylori eradication therapy is not associated with higher treatment failure compared with non-clarithromycin-based regimens in a tertiary referral hospital in Switzerland
• Cleveland Clinic Cognitive Battery (C3B): Normative, Reliability, and Validation Studies of a Self-Administered Computerized Tool for Screening Cognitive Dysfunction in Primary Care
• Comparing Tau PET Visual Interpretation with Tau PET Quantification, Cerebrospinal Fluid Biomarkers, and Longitudinal Clinical Assessment
• Copper-coated microsprayer interface for on-line sheathless capillary electrophoresis electrospray mass spectrometry of carbohydrates
• Coronary microvascular dysfunction and prognostication in diabetes mellitus
• Coronary Microvascular Dysfunction: Linking Inflammation and Cardiac Dysfunction?
• Correction: A case of fulminant respiratory diphtheria in a 24-year-old Afghan refugee in Austria in May 2022: a case report
• Cross-sectional and longitudinal comparisons of biomarkers and cognition among asymptomatic middle-aged individuals with a parental history of either autosomal dominant or late-onset Alzheimer's disease
• CSF MTBR-tau243 is a specific biomarker of tau tangle pathology in Alzheimer's disease
• CSF tau phosphorylation occupancies at T217 and T205 represent improved biomarkers of amyloid and tau pathology in Alzheimer's disease
• Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts
• Design and feasibility of an Alzheimer's disease blood test study in a diverse community-based population
• Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses
• Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia
• Discrepancy in Reporting of Perioperative Complications: A Retrospective Observational Study
• Disorders of glycoprotein degradation
• Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches
• Effect of exercise engagement and cardiovascular risk on neuronal injury
• Effects of Cold Atmospheric Plasma Pre-Treatment of Titanium on the Biological Activity of Primary Human Gingival Fibroblasts
• Evaluation of completeness, consistency and non-duplication of leprosy notification data on the Notifiable Health Conditions Information System, João Pessoa, Paraíba, Brazil: a descriptive study, 2001-2019
• Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis
• Everyday Driving and Plasma Biomarkers in Alzheimer's Disease: Leveraging Artificial Intelligence to Expand Our Diagnostic Toolkit
• Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA
• Extraction of clinical phenotypes for Alzheimer's disease dementia from clinical notes using natural language processing
• Fully automated construction of three-dimensional finite element simulations from Optical Coherence Tomography
• Generation of a mutator parasite to drive resistome discovery in Plasmodium falciparum
• Genetic architecture of plasma Alzheimer disease biomarkers
• Group B streptococcus virulence factors associated with different clinical syndromes: Asymptomatic carriage in pregnant women and early-onset disease in the newborn
• Gut microbiome composition may be an indicator of preclinical Alzheimer's disease
• High-throughput screening and proteomic characterization of compounds targeting myeloid-derived suppressor cells
• Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene
• Human geneticist from Wurzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy
• Humoral immune responses remain quantitatively impaired but improve qualitatively in anti-CD20-treated patients with multiple sclerosis after three or four COVID-19 vaccinations
• Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress
• Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry
• Identification of dual active sites in <em>Caenorhabditis elegans</em> GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes
• Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection
• Immunoglobulin A Antibodies Against Myelin Oligodendrocyte Glycoprotein in a Subgroup of Patients With Central Nervous System Demyelination
• In vitro bioevaluation and docking study of dihydrosphingosine and ethambutol analogues against sensitive and multi-drug resistant Mycobacterium tuberculosis
• Intravenous immunoglobulin treatment for acute attacks in myelin oligodendrocyte glycoprotein antibody disease
• Lysosomal storage diseases
• Machine learning-based approach reveals essential features for simplified TSPO PET quantification in ischemic stroke patients
• Macrocytic anemia and polychondritis: VEXAS syndrome
• Mapping the relationship of white matter lesions to depression in multiple sclerosis
• Mechanisms, Effects, and Management of Neurological Complications of Post-Acute Sequelae of COVID-19 (NC-PASC)
• Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings
• Mobile brain-body imaging markers of treatment-related responses in a man with Parkinson's disease
• Multiple <em>exo</em>-glycosidases in human serum as detected with the substrate DNP-α-GalNAc. I. A new assay for lysosomal α-<em>N</em>-acetylgalactosaminidase
• Mutations in PLA2G6 and the riddle of Schindler disease
• Myocardial Perfusion PET for the Detection and Reporting of Coronary Microvascular Dysfunction: A JACC: Cardiovascular Imaging Expert Panel Statement
• Norbergenin prevents LPS-induced inflammatory responses in macrophages through inhibiting NFκB, MAPK and STAT3 activation and blocking metabolic reprogramming
• Novel ACE2 fusion protein with adapting activity against SARS-CoV-2 variants <em>in vitro</em>
• Novel CSF tau biomarkers can be used for disease staging of sporadic Alzheimer's disease
• Novel Diagnostic Imaging Approach for Patients With Spontaneous Coronary Artery Dissection: The Utility of 18 F-FDG PET Imaging
• Nutrition for diabetic patients (Update 2023)
• Obinutuzumab Effectively Depletes Key B-cell Subsets in Blood and Tissue in End-stage Renal Disease Patients
• Optimization of 2,3-Dihydroquinazolinone-3-carboxamides as Antimalarials Targeting PfATP4
• Orphan Peripheral Neuropathies
• Paradoxical improvement of cognitive control in older adults under dual-task walking conditions is associated with more flexible reallocation of neural resources: A Mobile Brain-Body Imaging (MoBI) study
• PET-determined prevalence of coronary microvascular dysfunction and different types in a cardio-metabolic risk population
• Potent acyl-CoA synthetase 10 inhibitors kill Plasmodium falciparum by disrupting triglyceride formation
• Predicting continuous amyloid PET values with CSF and plasma Aβ42/Aβ40
• Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease
• Proteomics of brain, CSF, and plasma identifies molecular signatures for distinguishing sporadic and genetic Alzheimer's disease
• Radiomics of Tumor Heterogeneity in ¹⁸F-FDG-PET-CT for Predicting Response to Immune Checkpoint Inhibition in Therapy-Naïve Patients with Advanced Non-Small-Cell Lung Cancer
• Risk Factors for the In-Hospital Mortality in Pyogenic Vertebral Osteomyelitis: A Cross-Sectional Study on 9753 Patients
• Role of cardiac magnetic resonance imaging in the prediction of left ventricular remodeling after infarction: Emerging new concepts?
• SARS-CoV-2 induced vasculitic skin lesions are associated with massive spike protein depositions in autophagosomes
• Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency
• Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
• Schindler disease/Kanzaki disease
• Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]
• Schindler-disease/Kanzaki disease
• Severe Neuroinvasive West Nile Virus in Association With Anti-CD20 Monotherapy for Multiple Sclerosis
• Spatiotemporal dissemination of ESBL-producing Enterobacterales in municipal sewer systems: a prospective, longitudinal study in the city of Basel, Switzerland
• Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease)
• Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene
• The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases
• The Association Between Socioeconomic Factors, Race, and Usage of a Specialty Memory Clinic
• The Epidemiology of Spondylodiscitis in Germany: A Descriptive Report of Incidence Rates, Pathogens, In-Hospital Mortality, and Hospital Stays between 2010 and 2020
• The EURO-FORTA (Fit fOR The Aged) List Version 2: Consensus Validation of a Clinical Tool for Improved Pharmacotherapy in Older Adults
• The role of cerebrospinal fluid and other biomarker modalities in the Alzheimer's disease diagnostic revolution
• The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
• Thin-layer chromatography of urine oligosaccharides in diagnosis of some lysosomal storage disorders
• Type VII secretion system and its effect on group B Streptococcus virulence in isolates obtained from newborns with early onset disease and colonized pregnant women