Vilmantas Giedraitis

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P.; Lambert, Jean-Charles; Rasi, Chiara; Giedraitis, Vilmantas et al.

Part of American Journal of Human Genetics, p. 1208-1219, 2016

• DOI for Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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eta-Secretase processing of APP inhibits neuronal activity in the hippocampus

Willem, Michael; Tahirovic, Sabina; Busche, Marc Aurel; Ovsepian, Saak V. et al.

Part of Nature, p. 443-447, 2015

• DOI for eta-Secretase processing of APP inhibits neuronal activity in the hippocampus

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Forsberg, Lars A.; Rasi, Chiara; Malmqvist, Niklas; Davies, Hanna et al.

Part of Nature Genetics, p. 624-628, 2014

• DOI for Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Acute sleep deprivation increases serum levels of neuron-specific enolase (NSE) and S100 calcium binding protein B (S-100B) in healthy young men

Benedict, Christian; Cedernaes, Jonathan; Giedraitis, Vilmantas; Nilsson, Emil K et al.

Part of Sleep, p. 195-198, 2014

• DOI for Acute sleep deprivation increases serum levels of neuron-specific enolase (NSE) and S100 calcium binding protein B (S-100B) in healthy young men

Age-related accumulation of somatic structural changes in the nuclear genome of human blood cells in vivo

Dumanski, Jan P.; Forsberg, L. A.; Rasi, C.; Razzaghian, H. R. et al.

Part of Journal of Medical Genetics, 2012

Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotype

Blom, Elin S.; Giedraitis, Vilmantas; Zetterberg, Henrik; Fukumoto, Hiroaki et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 458-464, 2009

• DOI for Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotype

Plasma β Amyloid and the Risk of Alzheimer Disease and Dementia in Elderly Men: A Prospective, Population-Based Cohort Study

Sundelöf, Johan; Giedraitis, Vilmantas; Irizarry, Michael C; Sundström, Johan et al.

Part of Archives of Neurology, p. 256-63, 2008

• DOI for Plasma β Amyloid and the Risk of Alzheimer Disease and Dementia in Elderly Men: A Prospective, Population-Based Cohort Study

The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's disease

Giedraitis, Vilmantas; Sundelöf, Johan; Irizarry, Michael C; Gårevik, Nina et al.

Part of Neuroscience Letters, p. 127-131, 2007

• DOI for The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's disease

New Alzheimer's disease locus on chromosome 8

Giedraitis, Vilmantas; Hedlund, M.; Skoglund, Lena; Blom, Elin et al.

Part of Journal of Medical Genetics, p. 931-935, 2006

• DOI for New Alzheimer's disease locus on chromosome 8

Machine learning in Alzheimer's disease genetics

Bracher-Smith, Matthew; Melograna, Federico; Ulm, Brittany; Bellenguez, Celine et al.

Part of Nature Communications, 2025

• DOI for Machine learning in Alzheimer's disease genetics
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Prediabetes transitions to normoglycaemia or type 2 diabetes and associated risk factors in the Obesity, Diabetes and Cardiovascular Disease Collaboration: an individual-level pooled analysis of 19 prospective cohort studies

Davoodian, Najmeh; Lotfaliany, Mojtaba; Huxley, Rachel R.; Lee, Crystal Man Ying et al.

Part of The Lancet Global Health, p. 1533-1542, 2025

• DOI for Prediabetes transitions to normoglycaemia or type 2 diabetes and associated risk factors in the Obesity, Diabetes and Cardiovascular Disease Collaboration: an individual-level pooled analysis of 19 prospective cohort studies
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Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations

Nicolas, Aude; Sherva, Richard; Grenier-Boley, Benjamin; Kim, Yoontae et al.

Part of Nature Genetics, 2025

• DOI for Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations
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The interplay of genetics and fatty acid metabolism: exploring their impact on metabolic syndrome in Swedish men

Oskarsdottir, Harpa; Palsson, Arnar; Olafsdottir, Erla B.; Giedraitis, Vilmantas et al.

Part of Nutrition Journal, 2025

• DOI for The interplay of genetics and fatty acid metabolism: exploring their impact on metabolic syndrome in Swedish men
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Extracted step parameters during the timed up and go test discriminate between groups with different levels of cognitive ability: a cross-sectional study

Löfgren, Niklas; Berglund, Lars; Giedraitis, Vilmantas; Halvorsen, Kjartan et al.

Part of BMC Geriatrics, 2025

• DOI for Extracted step parameters during the timed up and go test discriminate between groups with different levels of cognitive ability: a cross-sectional study
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Machine learning in Alzheimer's disease genetics

Bracher-Smith, Matthew; Melograna, Federico; Ulm, Brittany; Bellenguez, Celine et al.

Part of Nature Communications, 2025

• DOI for Machine learning in Alzheimer's disease genetics
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Prediabetes transitions to normoglycaemia or type 2 diabetes and associated risk factors in the Obesity, Diabetes and Cardiovascular Disease Collaboration: an individual-level pooled analysis of 19 prospective cohort studies

Davoodian, Najmeh; Lotfaliany, Mojtaba; Huxley, Rachel R.; Lee, Crystal Man Ying et al.

Part of The Lancet Global Health, p. 1533-1542, 2025

• DOI for Prediabetes transitions to normoglycaemia or type 2 diabetes and associated risk factors in the Obesity, Diabetes and Cardiovascular Disease Collaboration: an individual-level pooled analysis of 19 prospective cohort studies
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Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations

Nicolas, Aude; Sherva, Richard; Grenier-Boley, Benjamin; Kim, Yoontae et al.

Part of Nature Genetics, 2025

• DOI for Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations
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The interplay of genetics and fatty acid metabolism: exploring their impact on metabolic syndrome in Swedish men

Oskarsdottir, Harpa; Palsson, Arnar; Olafsdottir, Erla B.; Giedraitis, Vilmantas et al.

Part of Nutrition Journal, 2025

• DOI for The interplay of genetics and fatty acid metabolism: exploring their impact on metabolic syndrome in Swedish men
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Extracted step parameters during the timed up and go test discriminate between groups with different levels of cognitive ability: a cross-sectional study

Löfgren, Niklas; Berglund, Lars; Giedraitis, Vilmantas; Halvorsen, Kjartan et al.

Part of BMC Geriatrics, 2025

• DOI for Extracted step parameters during the timed up and go test discriminate between groups with different levels of cognitive ability: a cross-sectional study
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DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease

Jakalski, Marcin; Bruhn-Olszewska, Bożena; Rychlicka-Buniowska, Edyta; Davies, Hanna et al.

Part of Cellular and Molecular Life Sciences (CMLS), 2025

• DOI for DNA methylation patterns contribute to changes of cellular differentiation pathways in leukocytes with LOY from patients with Alzheimers disease
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Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Zheng, Sean L; Henry, Albert; Cannie, Douglas; Lee, Michael et al.

Part of Nature Genetics, p. 2646-2658, 2024

• DOI for Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
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Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Keaton, Jacob M; Kamali, Zoha; Xie, Tian; Vaez, Ahmad et al.

Part of Nature Genetics, p. 778-791, 2024

• DOI for Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
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Prognostic Value of Cardiovascular Biomarkers in the Population

Neumann, Johannes Tobias; Twerenbold, Raphael; Weimann, Jessica; Ballantyne, Christie M. et al.

Part of Journal of the American Medical Association (JAMA), p. 1898-1909, 2024

• DOI for Prognostic Value of Cardiovascular Biomarkers in the Population

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

Suzuki, Ken; Giedraitis, Vilmantas; Ingelsson, Martin; Lind, Lars et al.

Part of Nature, p. 347-357, 2024

• DOI for Genetic drivers of heterogeneity in type 2 diabetes pathophysiology
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X-chromosome-wide association study for Alzheimer's disease.

Le Borgne, Julie; Gomez, Lissette; Heikkinen, Sami; Amin, Najaf et al.

Part of Molecular Psychiatry, 2024

• DOI for X-chromosome-wide association study for Alzheimer's disease.

Characteristics of and Risk Factors for Depressive Symptoms Preceding Dementia: A Study of 82-Year-Old Men From the Uppsala Longitudinal Study of Adult Men

Kallström, Angelica; Giedraitis, Vilmantas; Franzon, Kristin; Löwenmark, Malin et al.

Part of International Journal of Geriatric Psychiatry, 2024

• DOI for Characteristics of and Risk Factors for Depressive Symptoms Preceding Dementia: A Study of 82-Year-Old Men From the Uppsala Longitudinal Study of Adult Men
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Altered amyloid-β structure markedly reduces gliosis in the brain of mice harboring the Uppsala APP deletion

Pagnon de la Vega, María; Syvänen, Stina; Giedraitis, Vilmantas; Hooley, Monique et al.

Part of Acta neuropathologica communications, 2024

• DOI for Altered amyloid-β structure markedly reduces gliosis in the brain of mice harboring the Uppsala APP deletion
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Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease

Luo, Jiao; Thomassen, Jesper Qvist; Bellenguez, Celine; Grenier-Boley, Benjamin et al.

Part of JAMA Network Open, 2023

• DOI for Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
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Prediction of conversion to dementia disorders based on timed up and go dual-task test verbal and motor outcomes: a five-year prospective memory-clinic-based study

Åberg, Anna Cristina; Petersson, Johanna R.; Giedraitis, Vilmantas; Mckee, Kevin J. et al.

Part of BMC Geriatrics, 2023

• DOI for Prediction of conversion to dementia disorders based on timed up and go dual-task test verbal and motor outcomes: a five-year prospective memory-clinic-based study
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Dual-Task Interference of Gait Parameters During Different Conditions of the Timed Up-and-Go Test Performed by Community-Dwelling Older Adults

Åberg, Anna Cristina; Larsson, Liss Elin; Giedraitis, Vilmantas; Berglund, Lars et al.

Part of Journal of Aging and Physical Activity, p. 823-832, 2023

• DOI for Dual-Task Interference of Gait Parameters During Different Conditions of the Timed Up-and-Go Test Performed by Community-Dwelling Older Adults
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Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Le Guen, Yann; Luo, Guo; Ambati, Aditya; Damotte, Vincent et al.

Part of Proceedings of the National Academy of Sciences of the United States of America, 2023

• DOI for Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
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Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies

Gorski, Mathias; Rasheed, Humaira; Teumer, Alexander; Thomas, Laurent F. et al.

Part of Kidney International, p. 624-639, 2022

• DOI for Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies
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Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer’s disease and frontotemporal dementia

Pagnon de la Vega, María; Näslund, Carl; Brundin, RoseMarie; Lannfelt, Lars et al.

Part of BMC Genomics, 2022

• DOI for Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer’s disease and frontotemporal dementia
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CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer's disease PSEN1 M146L mutation

Konstantinidis, Evangelos; Molisak, Agnieszka; Perrin, Florian; Streubel-Gallasch, Linn et al.

Part of Molecular Therapy Nucleic Acids, p. 450-461, 2022

• DOI for CRISPR-Cas9 treatment partially restores amyloid-β 42/40 in human fibroblasts with the Alzheimer's disease PSEN1 M146L mutation
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New insights into the genetic etiology of Alzheimer's disease and related dementias

Bellenguez, Celine; Giedraitis, Vilmantas; Ingelsson, Martin; Lambert, Jean-Charles

Part of Nature Genetics, p. 412-436, 2022

• DOI for New insights into the genetic etiology of Alzheimer's disease and related dementias
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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation

Libard, Sylwia; Giedraitis, Vilmantas; Kilander, Lena; Ingelsson, Martin et al.

Part of Journal of Alzheimer's Disease, p. 1601-1614, 2022

• DOI for Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation
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Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Mahajan, Anubha; Spracklen, Cassandra N.; Zhang, Weihua; Ng, Maggie C. Y. et al.

Part of Nature Genetics, p. 560-572, 2022

• DOI for Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Timed “Up & Go” Dual-Task Tests: Age- and Sex-Specific Reference Values and Test-Retest Reliability in Cognitively Healthy Controls

Åhman, Hanna Bozkurt; Berglund, Lars; Cedervall, Ylva; Giedraitis, Vilmantas et al.

Part of Physical Therapy, 2021

• DOI for Timed “Up & Go” Dual-Task Tests: Age- and Sex-Specific Reference Values and Test-Retest Reliability in Cognitively Healthy Controls
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Extraction of gait parameters from marker-free video recordings of Timed Up-and-Go tests: Validity, inter- and intra-rater reliability

Åberg, Anna Cristina; Olsson, Fredrik; Åhman, Hanna Bozkurt; Tarassova, Olga et al.

Part of Gait & Posture, p. 489-495, 2021

• DOI for Extraction of gait parameters from marker-free video recordings of Timed Up-and-Go tests: Validity, inter- and intra-rater reliability
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021

• DOI for Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Lagou, Vasiliki; Maegi, Reedik; Hottenga, Jouke- Jan; Grallert, Harald et al.

Part of Nature Communications, 2021

• DOI for Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability
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The genomics of heart failure: design and rationale of the HERMES consortium

Lumbers, R. Thomas; Shah, Sonia; Lin, Honghuang; Czuba, Tomasz et al.

Part of ESC Heart Failure, p. 5531-5541, 2021

• DOI for The genomics of heart failure: design and rationale of the HERMES consortium
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin et al.

Part of Nature Communications, 2021

• DOI for Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid beta fibril formation

de la Vega, Maria Pagnon; Giedraitis, Vilmantas; Michno, Wojciech; Kilander, Lena et al.

Part of Science Translational Medicine, 2021

• DOI for The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid beta fibril formation

Different Inflammatory Signatures in Alzheimer's Disease and Frontotemporal Dementia Cerebrospinal Fluid

Boström, Gustaf; Freyhult, Eva; Virhammar, Johan; Alcolea, Daniel et al.

Part of Journal of Alzheimer's Disease, p. 629-640, 2021

• DOI for Different Inflammatory Signatures in Alzheimer's Disease and Frontotemporal Dementia Cerebrospinal Fluid
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The association between plasma proteomics and incident cardiovascular disease identifies MMP-12 as a promising cardiovascular risk marker in patients with chronic kidney disease

Feldreich, Tobias; Nowak, Christoph; Carlsson, Axel C.; ostgren, Carl-Johan et al.

Part of Atherosclerosis, p. 11-15, 2020

• DOI for The association between plasma proteomics and incident cardiovascular disease identifies MMP-12 as a promising cardiovascular risk marker in patients with chronic kidney disease
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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Folkersen, Lasse; Gustafsson, Stefan; Wang, Qin; Hvidberg Hansen, Daniel et al.

Part of Nature Metabolism, p. 1135-1148, 2020

• DOI for Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

Ntalla, Ioanna; Weng, Lu-Chen; Cartwright, James H.; Hall, Amelia Weber et al.

Part of Nature Communications, 2020

• DOI for Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction
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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Shah, Sonia; Henry, Albert; Roselli, Carolina; Lin, Honghuang et al.

Part of Nature Communications, 2020

• DOI for Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
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Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

Danielsson, Marcus; Halvardson, Jonatan; Davies, Hanna; Moghadam, Behrooz Torabi et al.

Part of European Journal of Human Genetics, p. 349-357, 2020

• DOI for Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
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Dual-task tests discriminate between dementia, mild cognitive impairment, subjective cognitive impairment, and healthy controls - a cross-sectional cohort study.

Åhman, Hanna Bozkurt; Cedervall, Ylva; Kilander, Lena; Giedraitis, Vilmantas et al.

Part of BMC Geriatrics, 2020

• DOI for Dual-task tests discriminate between dementia, mild cognitive impairment, subjective cognitive impairment, and healthy controls - a cross-sectional cohort study.
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Timed Up-and-Go Dual-Task Testing in the Assessment of Cognitive Function: A Mixed Methods Observational Study for Development of the UDDGait Protocol

Cedervall, Ylva; Stenberg, Anna M.; Åhman, Hanna Bozkurt; Giedraitis, Vilmantas et al.

Part of International Journal of Environmental Research and Public Health, 2020

• DOI for Timed Up-and-Go Dual-Task Testing in the Assessment of Cognitive Function: A Mixed Methods Observational Study for Development of the UDDGait Protocol
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Dual-task tests predict conversion to dementia: A prospective memory-clinic-based cohort study

Åhman, Hanna Bozkurt; Berglund, Lars; Cedervall, Ylva; Kilander, Lena et al.

Part of International Journal of Environmental Research and Public Health, 2020

• DOI for Dual-task tests predict conversion to dementia: A prospective memory-clinic-based cohort study
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Tin, Adrienne; Marten, Jonathan; Kuhns, Victoria L. Halperin; Li, Yong et al.

Part of Nature Genetics, p. 1459-1474, 2019

• DOI for Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Wuttke, Matthias; Li, Yong; Li, Man; Sieber, Karsten B. et al.

Part of Nature Genetics, p. 957-972, 2019

• DOI for A catalog of genetic loci associated with kidney function from analyses of a million individuals

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Justice, Anne E.; Giedraitis, Vilmantas; Gustafsson, Stefan; Ingelsson, Erik et al.

Part of Nature Genetics, p. 452-469, 2019

• DOI for Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Kunkle, Brian W.; Giedraitis, Vilmantas; Kilander, Lena; Brundin, RoseMarie et al.

Part of Nature Genetics, p. 414-430, 2019

• DOI for Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Cardiovascular Risk Factors Associated With Venous Thromboembolism

Gregson, John; Kaptoge, Stephen; Bolton, Thomas; Pennells, Lisa et al.

Part of JAMA cardiology, p. 163-173, 2019

• DOI for Cardiovascular Risk Factors Associated With Venous Thromboembolism

The metabolites urobilin and sphingomyelin (30:1) are associated with incident heart failure in the general population

Stenemo, Markus; Ganna, Andrea; Salihovic, Samira; Nowak, Christoph et al.

Part of ESC Heart Failure, p. 764-773, 2019

• DOI for The metabolites urobilin and sphingomyelin (30:1) are associated with incident heart failure in the general population
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Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

Teumer, Alexander; Li, Yong; Ghasemi, Sahar; Prins, Bram P. et al.

Part of Nature Communications, 2019

• DOI for Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria
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Mosaic loss of chromosome Y in leukocytes matters

Forsberg, Lars A.; Halvardson, Jonatan; Rychlicka-Buniowska, Edyta; Danielsson, Marcus et al.

Part of Nature Genetics, p. 4-7, 2019

• DOI for Mosaic loss of chromosome Y in leukocytes matters

Risk factors for subarachnoid haemorrhage: a nationwide cohort of 950 000 adults

Sundström, Johan; Söderholm, Martin; Söderberg, Stefan; Alfredsson, Lars et al.

Part of International Journal of Epidemiology, p. 2018-2025, 2019

• DOI for Risk factors for subarachnoid haemorrhage: a nationwide cohort of 950 000 adults

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

Morris, Andrew P; Le, Thu H; Wu, Haojia; Akbarov, Artur et al.

Part of Nature Communications, 2019

• DOI for Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
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Dual-Task Performance and Neurodegeneration: Correlations Between Timed Up-and-Go Dual-Task Test Outcomes and Alzheimer's Disease Cerebrospinal Fluid Biomarkers

Åhman, Hanna Bozkurt; Giedraitis, Vilmantas; Cedervall, Ylva; Lennhed, Bjorn et al.

Part of Journal of Alzheimer's Disease, 2019

• DOI for Dual-Task Performance and Neurodegeneration: Correlations Between Timed Up-and-Go Dual-Task Test Outcomes and Alzheimer's Disease Cerebrospinal Fluid Biomarkers

Rationale for a Swedish cohort consortium

Sundström, Johan; Björkelund, Cecilia; Giedraitis, Vilmantas; Hansson, Per-Olof et al.

Part of Upsala Journal of Medical Sciences, p. 21-28, 2019

• DOI for Rationale for a Swedish cohort consortium
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Improved Differential Diagnosis of Alzheimer's Disease by Integrating ELISA and Mass Spectrometry-Based Cerebrospinal Fluid Biomarkers

Emami Khoonsari, Payam; Shevchenko, Ganna; Herman, Stephanie; Remnestal, Julia et al.

Part of Journal of Alzheimer's Disease, p. 639-651, 2019

• DOI for Improved Differential Diagnosis of Alzheimer's Disease by Integrating ELISA and Mass Spectrometry-Based Cerebrospinal Fluid Biomarkers
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Evangelou, Evangelos; Warren, Helen R; Mosen-Ansorena, David; Mifsud, Borbala et al.

Part of Nature Genetics, p. 1412-1425, 2018

• DOI for Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Mahajan, Anubha; Wessel, Jennifer; Willems, Sara M.; Zhao, Wei et al.

Part of Nature Genetics, p. 559-571, 2018

• DOI for Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer's Disease

Gyorgy, Bence; Loov, Camilla; Zaborowski, Mikolaj P.; Takeda, Shuko et al.

Part of Molecular Therapy Nucleic Acids, p. 429-440, 2018

• DOI for CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer's Disease
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Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Ligthart, Symen; Vaez, Ahmad; Võsa, Urmo; Stathopoulou, Maria G et al.

Part of American Journal of Human Genetics, p. 691-706, 2018

• DOI for Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Circulating proteins as predictors of incident heart failure in the elderly

Stenemo, Markus; Nowak, Christoph; Byberg, Liisa; Sundström, Johan et al.

Part of European Journal of Heart Failure, p. 55-62, 2018

• DOI for Circulating proteins as predictors of incident heart failure in the elderly

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Mahajan, Anubha; Taliun, Daniel; Thurner, Matthias; Robertson, Neil R. et al.

Part of Nature Genetics, p. 1505-+, 2018

• DOI for Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, Valerie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia et al.

Part of Nature Genetics, p. 26-+, 2018

• DOI for Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Glucose challenge metabolomics implicates medium-chain acylcarnitines in insulin resistance

Nowak, Christoph; Hetty, Susanne; Salihovic, Samira; Castillejo-Lopez, Casimiro et al.

Part of Scientific Reports, 2018

• DOI for Glucose challenge metabolomics implicates medium-chain acylcarnitines in insulin resistance
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Multiplex proteomics for prediction of major cardiovascular events in type 2 diabetes

Nowak, Christoph; Carlsson, Axel C; Östgren, Carl Johan; Nyström, Fredrik H. et al.

Part of Diabetologia, p. 1748-1757, 2018

• DOI for Multiplex proteomics for prediction of major cardiovascular events in type 2 diabetes
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

Wain, Louise V.; Vaez, Ahmad; Jansen, Rick; Joehanes, Roby et al.

Part of Hypertension, 2017

• DOI for Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M. et al.

Part of Scientific Data, 2017

• DOI for Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
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Rare and low-frequency coding variants alter human adult height

Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina; Lo, Ken Sin et al.

Part of Nature, p. 186-190, 2017

• DOI for Rare and low-frequency coding variants alter human adult height

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, Rebecca; van der Lee, Sven J.; Naj, Adam C.; Bellenguez, Celine et al.

Part of Nature Genetics, p. 1373-+, 2017

• DOI for Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Cognitive function in very old men does not correlate to biomarkers of Alzheimer's disease

Velickaite, Vilma; Giedraitis, Vilmantas; Ström, K; Alafuzoff, Irina et al.

Part of BMC Geriatrics, 2017

• DOI for Cognitive function in very old men does not correlate to biomarkers of Alzheimer's disease
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Nolte, Ilja M.; Munoz, M. Loretto; Tragante, Vinicius; Amare, Azmeraw T. et al.

Part of Nature Communications, 2017

• DOI for Genetic loci associated with heart rate variability and their effects on cardiac disease risk
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Stability of Proteins in Dried Blood Spot Biobanks.

Björkesten, Johan; Enroth, Stefan; Shen, Qiujin; Wik, Lotta et al.

Part of Molecular & Cellular Proteomics, p. 1286-1296, 2017

• DOI for Stability of Proteins in Dried Blood Spot Biobanks.
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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Warren, Helen R.; Evangelou, Evangelos; Cabrera, Claudia P.; Gao, He et al.

Part of Nature Genetics, p. 403-415, 2017

• DOI for Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity

Mahajan, Anubha; Rodan, Aylin R.; Le, Thu H.; Gaulton, Kyle J. et al.

Part of American Journal of Human Genetics, p. 636-646, 2016

• DOI for Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
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Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study

van der Laan, Sander W.; Fall, Tove; Soumare, Aicha; Teumer, Alexander et al.

Part of Journal of the American College of Cardiology, p. 934-945, 2016

• DOI for Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study
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No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis

Loley, Christina; Alver, Maris; Assimes, Themistocles L.; Bjonnes, Andrew et al.

Part of Scientific Reports, 2016

• DOI for No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis
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Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study

Nowak, Christoph; Salihovic, Samira; Ganna, Andrea; Brandmaier, Stefan et al.

Part of PLOS Genetics, 2016

• DOI for Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study
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Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski, Jan P.; Lambert, Jean-Charles; Rasi, Chiara; Giedraitis, Vilmantas et al.

Part of American Journal of Human Genetics, p. 1208-1219, 2016

• DOI for Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
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The genetic architecture of type 2 diabetes

Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha et al.

Part of Nature, p. 41-47, 2016

• DOI for The genetic architecture of type 2 diabetes

Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes

Fall, Tove; Salihovic, Samira; Brandmaier, Stefan; Nowak, Christoph et al.

Part of Diabetologia, p. 2114-2124, 2016

• DOI for Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes

Protein Biomarkers for Insulin Resistance and Type 2 Diabetes Risk in Two Large Community Cohorts

Nowak, Christoph; Sundström, Johan; Gustafsson, Stefan; Giedraitis, Vilmantas et al.

Part of Diabetes, p. 276-284, 2016

• DOI for Protein Biomarkers for Insulin Resistance and Type 2 Diabetes Risk in Two Large Community Cohorts

Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Dumanski, Jan P.; Rasi, Chiara; Lönn, Mikael; Davies, Hanna et al.

Part of Science, p. 81-83, 2015

• DOI for Mutagenesis: smoking is associated with mosaic loss of chromosome Y

Self-reported sleep disturbance is associated with Alzheimer's disease risk in men

Benedict, Christian; Byberg, Liisa; Cedernaes, Jonathan; Hogenkamp, Pleunie S et al.

Part of Alzheimer's & Dementia, p. 1090-1097, 2015

• DOI for Self-reported sleep disturbance is associated with Alzheimer's disease risk in men
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Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

Fall, Tove; Hägg, Sara; Ploner, Alexander; Mägi, Reedik et al.

Part of Diabetes, p. 1841-1852, 2015

• DOI for Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

New genetic loci link adipose and insulin biology to body fat distribution

Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C; Ferreira, Teresa et al.

Part of Nature, p. 187-196, 2015

• DOI for New genetic loci link adipose and insulin biology to body fat distribution

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

Hägg, Sara; Fall, Tove; Ploner, Alexander; Maegi, Reedik et al.

Part of International Journal of Epidemiology, p. 578-586, 2015

• DOI for Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E; Kahali, Bratati; Berndt, Sonja I; Justice, Anne E et al.

Part of Nature, p. 197-206, 2015

• DOI for Genetic studies of body mass index yield new insights for obesity biology

eta-Secretase processing of APP inhibits neuronal activity in the hippocampus

Willem, Michael; Tahirovic, Sabina; Busche, Marc Aurel; Ovsepian, Saak V. et al.

Part of Nature, p. 443-447, 2015

• DOI for eta-Secretase processing of APP inhibits neuronal activity in the hippocampus

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independently of obesity

Scott, Robert A; Fall, Tove; Pasko, Dorota; Barker, Adam et al.

Part of Diabetes, p. 4378-4387, 2014

• DOI for Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independently of obesity

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Forsberg, Lars A.; Rasi, Chiara; Malmqvist, Niklas; Davies, Hanna et al.

Part of Nature Genetics, p. 624-628, 2014

• DOI for Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R; Esko, Tonu; Yang, Jian; Vedantam, Sailaja et al.

Part of Nature Genetics, p. 1173-1186, 2014

• DOI for Defining the role of common variation in the genomic and biological architecture of adult human height

Acute sleep deprivation increases serum levels of neuron-specific enolase (NSE) and S100 calcium binding protein B (S-100B) in healthy young men

Benedict, Christian; Cedernaes, Jonathan; Giedraitis, Vilmantas; Nilsson, Emil K et al.

Part of Sleep, p. 195-198, 2014

• DOI for Acute sleep deprivation increases serum levels of neuron-specific enolase (NSE) and S100 calcium binding protein B (S-100B) in healthy young men

Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer's Disease Patients Alter Calcium Homeostasis

Rubio-Moscardo, Fanny; Seto-Salvia, Nuria; Pera, Marta; Bosch-Morato, Monica et al.

Part of PLOS ONE, 2013

• DOI for Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer's Disease Patients Alter Calcium Homeostasis
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Age-related accumulation of somatic structural changes in the nuclear genome of human blood cells in vivo

Dumanski, Jan P.; Forsberg, L. A.; Rasi, C.; Razzaghian, H. R. et al.

Part of Journal of Medical Genetics, 2012

Age-related somatic structural changes in the nuclear genome of human blood cells

Forsberg, Lars A.; Rasi, Chiara; Razzaghian, Hamid R; Pakalapati, Geeta et al.

Part of American Journal of Human Genetics, p. 217-228, 2012

• DOI for Age-related somatic structural changes in the nuclear genome of human blood cells

Neurofilament ELISA validation

Petzold, Axel; Altintas, Ayse; Andreoni, Laura; Bartos, Ales et al.

Part of JIM - Journal of Immunological Methods, p. 23-31, 2010

• DOI for Neurofilament ELISA validation

CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid

Giedraitis, Vilmantas; Glaser, Anna; Sarajärvi, Timo; Brundin, RoseMarie et al.

Part of Neuroscience Letters, p. 265-267, 2010

• DOI for CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid

Cystatin C Levels are Positively Correlated with both Aβ₄₂ and Tau Levels in Cerebrospinal Fluid in Persons with Alzheimer's Disease, Mild Cognitive Impairment, and Healthy Controls

Sundelöf, Johan; Sundstrom, Johan; Hansson, Oskar; Eriksdotter-Jönhagen, Maria et al.

Part of Journal of Alzheimer's Disease, p. 471-478, 2010

• DOI for Cystatin C Levels are Positively Correlated with both Aβ₄₂ and Tau Levels in Cerebrospinal Fluid in Persons with Alzheimer's Disease, Mild Cognitive Impairment, and Healthy Controls

Higher Cathepsin B Levels in Plasma in Alzheimer's Disease Compared to Healthy Controls

Sundelöf, Johan; Sundström, Johan; Hansson, Oskar; Eriksdotter-Jönhagen, Maria et al.

Part of Journal of Alzheimer's Disease, p. 1223-1230, 2010

• DOI for Higher Cathepsin B Levels in Plasma in Alzheimer's Disease Compared to Healthy Controls

The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease: a Meta-Analysis Study

Lambert, Jean-Charles; Sleegers, Kristel; Gonzalez-Perez, Antonio; Ingelsson, Martin et al.

Part of Journal of Alzheimer's Disease, p. 247-255, 2010

• DOI for The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease: a Meta-Analysis Study

Further analysis of previously implicated linkage regions for Alzheimer’s disease in affected relative pairs

Blom, Elin Susanne; Giedraitis, Vilmantas; Arepalli, Sampath; Hamshere, Marian L. et al.

Part of BMC Medical Genetics, p. 122, 2009

• DOI for Further analysis of previously implicated linkage regions for Alzheimer’s disease in affected relative pairs

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

Skoglund, Lena; Brundin, RoseMarie; Olofsson, Tommie; Kalimo, Hannu et al.

Part of Neurogenetics, p. 27-34, 2009

• DOI for Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration

Skoglund, Lena; Ingvast, Sofie; Matsui, Toshifumi; Freeman, Stefanie et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 471-475, 2009

• DOI for No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration

Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Giedraitis, Vilmantas; Kilander, Lena; Degerman-Gunnarsson, Malin; Sundelöf, Johan et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 59-68, 2009

• DOI for Genetic analysis of Alzheimer's disease in the Uppsala Longitudinal Study of Adult Men

Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotype

Blom, Elin S.; Giedraitis, Vilmantas; Zetterberg, Henrik; Fukumoto, Hiroaki et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 458-464, 2009

• DOI for Rapid progression from mild cognitive impairment to Alzheimer's disease in subjects with elevated levels of tau in cerebrospinal fluid and the APOE epsilon4/epsilon4 genotype

Plasma β Amyloid and the Risk of Alzheimer Disease and Dementia in Elderly Men: A Prospective, Population-Based Cohort Study

Sundelöf, Johan; Giedraitis, Vilmantas; Irizarry, Michael C; Sundström, Johan et al.

Part of Archives of Neurology, p. 256-63, 2008

• DOI for Plasma β Amyloid and the Risk of Alzheimer Disease and Dementia in Elderly Men: A Prospective, Population-Based Cohort Study

Serum cystatin C and the risk of Alzheimer disease in elderly men

Sundelöf, Johan; Ärnlöv, J.; Ingelsson, E.; Sundström, J. et al.

Part of Neurology, p. 1072-1079, 2008

• DOI for Serum cystatin C and the risk of Alzheimer disease in elderly men

The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's disease

Giedraitis, Vilmantas; Sundelöf, Johan; Irizarry, Michael C; Gårevik, Nina et al.

Part of Neuroscience Letters, p. 127-131, 2007

• DOI for The normal equilibrium between CSF and plasma amyloid beta levels is disrupted in Alzheimer's disease

Association study of cholesterol-related genes in Alzheimer's disease

Wollmer, M Axel.; Sleegers, Kristel; Ingelsson, Martin; Zekanowski, Cezary et al.

Part of Neurogenetics, p. 179-188, 2007

• DOI for Association study of cholesterol-related genes in Alzheimer's disease

New Alzheimer's disease locus on chromosome 8

Giedraitis, Vilmantas; Hedlund, M.; Skoglund, Lena; Blom, Elin et al.

Part of Journal of Medical Genetics, p. 931-935, 2006

• DOI for New Alzheimer's disease locus on chromosome 8

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

Marklund, Lena; Melin, Malin; Melberg, Atle; Giedraitis, Vilmantas et al.

Part of American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, p. 608-614, 2006

• DOI for Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23

The Uppsala APP deletion causes early onset autosomal dominant Alzheimer’s disease by altering APP processing and increasing amyloid-β fibril formation

Pagnon de la Vega, María; Giedraitis, Vilmantas; Michno, Wojciech; Kilander, Lena et al.

Part of Science Translational Medicine

Prediction of conversion to dementia disorders based on Timed Up and Go dual-task test verbal outcomes: A longitudinal prospective memory-clinic-based study

Åberg, Anna Cristina; Roseberg Petersson, Johanna; Giedraitis, Vilmantas; McKee, Kevin et al.

2023

Step length during Timed Up and Go performance – preliminary results of a cross-sectional cohort study.

Roseberg Petersson, Johanna; Berglund, Lars; Giedraitis, Vilmantas; Halvorsen, Kjartan et al.

2023

The Uppsala APP mutation promotes wildtype Aβ aggregation and deposition in vivo

Pagnon de la Vega, María; Ge, Junyue; Giedraitis, Vilmantas; Syvänen, Stina et al.

Transgenic mice harboring the Uppsala APP mutation display altered APP processing and accelerated Aβ42 pathology with distinct structural features

Pagnon de la Vega, María; Syvänen, Stina; Hooley, Monique; Giedraitis, Vilmantas et al.

CRISPR/Cas9 as a tool to disrupt wild-type and A53T SNCA in sporadic and familial Parkinson’s disease

Molisak, Agnieszka; Konstantinidis, Evangelos; Aguilar, Ximena; Giedraitis, Vilmantas et al.

Metabolite profiles during an oral glucose tolerance test reveal new associations with clamp-measured insulin sensitivity

Nowak, Christoph; Sundstrom, Johan; Salihovic, Samira; Ganna, Andrea et al.

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