Alfredo Ramı́rez
A5031173940- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Genetic Associations and Epidemiology
- Neuroinflammation and Neurodegeneration Mechanisms
- Functional Brain Connectivity Studies
- Bioinformatics and Genomic Networks
- Parkinson's Disease Mechanisms and Treatments
- Health, Environment, Cognitive Aging
- Genetics and Neurodevelopmental Disorders
- Tryptophan and brain disorders
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Nutritional Studies and Diet
- Neurological Disease Mechanisms and Treatments
- Diet and metabolism studies
- Autism Spectrum Disorder Research
- Nutrition, Genetics, and Disease
- Advanced Neuroimaging Techniques and Applications
- RNA regulation and disease
- Obsessive-Compulsive Spectrum Disorders
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Metabolomics and Mass Spectrometry Studies
- Amyotrophic Lateral Sclerosis Research
- Nuclear Receptors and Signaling
Hospital Universitario Son Espases
2020-2025
German Center for Neurodegenerative Diseases
2014-2025
University Hospital Cologne
2005-2025
Institute for Neurodegenerative Disorders
2018-2025
University of Cologne
2016-2025
University Hospital Bonn
2015-2025
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases
2020-2025
The University of Texas Health Science Center at San Antonio
2018-2025
Fundacion Centro De Investigacion De Enfermedades Neurologicas
2025
Universitätsmedizin Göttingen
2025
Loss of TREM2 function impairs phagocytosis and correlates with decreased soluble in biological fluids patients neurodegenerative disorders.
The identification of subjects at high risk for Alzheimer's disease is important prognosis and early intervention. We investigated the polygenic architecture accuracy prediction models, including excluding component in model. This study used genotype data from powerful dataset comprising 17 008 cases 37 154 controls obtained International Genomics Project (IGAP). Polygenic score analysis tested whether alleles identified to associate with one sample set were significantly enriched relative...
Retrograde axonal transport of nerve growth factor (NGF) signals is critical for the survival, differentiation, and maintenance peripheral sympathetic sensory neurons basal forebrain cholinergic neurons. However, mechanisms by which NGF signal propagated from axon terminal to cell body are yet be fully elucidated. To gain insight into mechanisms, we used quantum dot-labeled (QD-NGF) track movement in real time compartmentalized culture rat dorsal root ganglion (DRG) Our studies showed that...
Parkinson disease (PD) is a progressive neurodegenerative disorder pathologically characterized by the loss of dopaminergic neurons from substantia nigra pars compacta and presence, in affected brain regions, protein inclusions named Lewy bodies (LBs). The ATP13A2 gene (locus PARK9) encodes ATP13A2, lysosomal type 5 P-type ATPase that linked to autosomal recessive familial parkinsonism. physiological function hence its role PD, remains be elucidated. Here, we show PD-linked mutations lead...
Deep phenotyping and longitudinal assessment of predementia at-risk states Alzheimer's disease (AD) are required to define populations outcomes for dementia prevention trials. Subjective cognitive decline (SCD) is a pre-mild impairment (pre-MCI) state dementia, which emerges as highly promising target AD prevention.The German Center Neurodegenerative Diseases (DZNE) conducting the multicenter DZNE-Longitudinal Cognitive Impairment Dementia Study (DELCODE), focuses on characterization SCD in...
Abstract Introduction Identifying circulating metabolites that are associated with cognition and dementia may improve our understanding of the pathogenesis provide crucial readouts for preventive therapeutic interventions. Methods We studied 299 in relation to (general cognitive ability) two discovery cohorts (N total = 5658). Metabolites significantly after adjusting multiple testing were replicated four independent 6652), associations Alzheimer's disease 25,872) lifestyle factors 5168)...
Abstract Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability approximately 70% 1 . The genetic component AD been mainly assessed using genome-wide association studies, which do not capture risk contributed by rare variants 2 Here, we compared gene-based burden damaging in exome sequencing data from 32,558 individuals—16,036 cases and 16,522 controls. Next to TREM2 , SORL1 ABCA7 observed a significant rare, predicted ATP8B4 ABCA1 with risk, suggestive signal...
To determine whether following a Mediterranean-like diet (MeDi) relates to cognitive functions and in vivo biomarkers for Alzheimer disease (AD), we analyzed cross-sectional data from the German DZNE-Longitudinal Cognitive Impairment Dementia Study. METHOD: The sample (n=512, mean age: 69.5±5.9 years) included 169 cognitively normal participants subjects at higher AD risk (53 with relatives AD, 209 subjective decline, 81 mild impairment). We defined MeDi adherence based on Food Frequency...
Abstract Introduction It is uncertain whether subjective cognitive decline (SCD) in individuals who seek medical help serves the identification of initial symptomatic stage 2 Alzheimer's disease (AD) continuum. Methods Cross‐sectional and longitudinal data from multicenter, memory clinic–based DELCODE study. Results The SCD group showed slightly worse cognition as well more subtle functional behavioral symptoms than control (CO). SCD–A+ cases (39.3% all SCD) greater hippocampal atrophy,...
Minimally invasive biomarkers are urgently needed to detect molecular pathology in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we show that plasma extracellular vesicles (EVs) contain quantifiable amounts of TDP-43 full-length tau, which allow the quantification 3-repeat (3R) 4-repeat (4R) tau isoforms. Plasma EV levels 3R/4R ratios were determined a cohort 704 patients, including 37 genetically 31 neuropathologically proven cases. Diagnostic groups comprised...
Importance An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most these lacking. Effective interventions should target in causal pathway to dementia. Objective To comprehensively disentangle aspects modifiable Alzheimer disease (AD) inspire new drug targeting and improved prevention. Design, Setting, Participants This genetic association study was conducted using 2-sample univariable multivariable...
Background Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase has been reported to be involved respiratory chain function and mitochondrial dynamics. More recent publications also described a link between mitophagy. Methodology/Principal Findings In this study, we investigated impact mutations on morphology human cellular model. Fibroblasts were obtained from three members an Italian PD family...