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List of works by Caroline Graff

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

A DNA Methylation Study of the Amyloid Precursor Protein Gene in Several Brain Regions from Patients with Familial Alzheimer Disease

article

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

scientific article published on 30 March 2016

A functional polymorphism in the HMGCR promoter affects transcriptional activity but not the risk for Alzheimer disease in Swedish populations.

scientific article

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

A unique gene expression signature discriminates familial Alzheimer's disease mutation carriers from their wild-type siblings

scientific article

APOE-related mortality: Effect of dementia, cardiovascular disease and gender

scholarly article by Lina Rosvall et al published October 2009 in Neurobiology of Aging

Abeta43 is more frequent than Abeta40 in amyloid plaque cores from Alzheimer disease brains.

scientific article

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Age-dependent variation of genotypes in MHC II transactivator gene (CIITA) in controls and association to type 1 diabetes

article

Altered enzymatic activity and allele frequency of OMI/HTRA2 in Alzheimer's disease

scientific article published on 16 December 2010

Alzheimer's disease and genetics

scientific article published in August 2013

Amyloid neuropathology in the single Arctic APP transgenic model affects interconnected brain regions

scientific article published on 31 August 2011

Amyloid precursor protein accumulates in aggresomes in response to proteasome inhibitor

scientific article published on 15 February 2012

Amyloid-β peptide induces mitochondrial dysfunction by inhibition of preprotein maturation.

scientific article

Antemortem Prediction of Braak Stage

scientific article

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

scientific article

Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease

scientific article published on 10 May 2007

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

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

scientific article published on 01 September 2019

Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy

scientific article published on 2 March 2016

Biochemical studies of poly-T variants in the Alzheimer's disease associated TOMM40 gene

scientific article published in January 2012

C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

scientific article published on 17 September 2020

CEREBRAL PERFUSION AS AN IMAGING BIOMARKER OF PRESYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA: PRELIMINARY RESULTS FROM THE GENETIC FRONTOTEMPORAL DEMENTIA INITIATIVE (GENFI)

Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study

scientific article

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

scientific article published on 25 October 2017

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

scientific article published on 01 May 2000

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity

scientific article published in September 1995

Correction: The Pathogenic Aβ43 Is Enriched in Familial and Sporadic Alzheimer Disease.

scientific article published on 23 May 2013

Correction: The Pathogenic Aβ43 Is Enriched in Familial and Sporadic Alzheimer Disease.

scientific article published on 16 May 2013

DNMT3A moderates cognitive decline in subjects with mild cognitive impairment: replicated evidence from two mild cognitive impairment cohorts

scientific article published in June 2015

Defeating Alzheimer's disease and other dementias: a priority for European science and society

scientific article published on April 2016

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease

scientific article published on 27 April 2017

Differences in proliferation rate between CADASIL and control vascular smooth muscle cells are related to increased TGFβ expression

scientific article published on 13 March 2018

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

scientific article published in January 1999

Diverging longitudinal changes in astrocytosis and amyloid PET in autosomal dominant Alzheimer's disease

scientific article published on 26 January 2016

Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study

scientific article published on 6 February 2018

Early astrocytosis in autosomal dominant Alzheimer's disease measured in vivo by multi-tracer positron emission tomography

scientific article

Effect of the Interplay Between Genetic and Behavioral Risks on Survival After Age 75.

scientific article

Effects of vascular risk factors and APOE ε4 on white matter integrity and cognitive decline

scientific article

Ethical aspects of a predictive test for Huntington's Disease: A long term perspective

scientific article published on 21 April 2015

Ethical aspects of undergoing a predictive genetic testing for Huntington's disease

scientific article published on 22 August 2012

Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease

scientific article (publication date: 24 October 2007)

Findings from the Swedish Study on Familial Alzheimer's Disease Including the APP Swedish Double Mutation

scientific article published on 29 March 2018

Fine Mapping of Best's Macular Dystrophy Localizes the Gene in Close Proximity to but Distinct from the D11S480/ROM1 Loci

article

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

article

Frontotemporal dementia and its subtypes: a genome-wide association study

scientific article

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.

scientific article

Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease

scientific article published on 22 May 2008

Genetic effects on old-age cognitive functioning: a population-based study

scientific article published on 31 December 2012

Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support

scientific article published on 01 March 1997

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

scientific article published on 28 February 2019

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

scientific article published on 19 February 2015

Genome scan on Swedish Alzheimer's disease families

scientific article

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

scientific article published on 20 March 2012

Genotyping of apolipoprotein E: comparative evaluation of different protocols

scientific article published on 01 November 2003

Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation

scientific article published on 30 September 2009

HHEX_23 AA Genotype Exacerbates Effect of Diabetes on Dementia and Alzheimer Disease: A Population-Based Longitudinal Study

scientific article published on 14 July 2015

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

scientific article

Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

scientific article published in November 2000

Increased Epileptiform EEG Activity and Decreased Seizure Threshold in Arctic APP Transgenic Mouse Model of Alzheimer's Disease

scientific article published on 28 January 2016

Increased mitochondrial mass in mitochondrial myopathy mice

scientific article

Interactive effects of KIBRA and CLSTN2 polymorphisms on episodic memory in old-age unipolar depression

scientific article published on 29 July 2014

Involvement of the retinohypothalamic tract in the photic-like effects of the serotonin agonist quipazine in the rat.

scientific article published in January 2005

Lesion of the subiculum reduces the spread of amyloid beta pathology to interconnected brain regions in a mouse model of Alzheimer's disease

scientific article published in 2014

Linkage analysis of autopsy-confirmed familial Alzheimer disease supports an Alzheimer disease locus in 8q24.

scientific article published on 27 January 2011

Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer's disease and vascular dementia

scientific article published in July 2010

Linkage to the 8p21.1 region Including the CLU gene in age at onset stratified alzheimer's disease families

scientific article published in January 2011

Low PiB PET retention in presence of pathologic CSF biomarkers in Arctic APP mutation carriers

scientific article published on 13 June 2012

Magnified effects of the COMT gene on white-matter microstructure in very old age.

scientific article published on 24 July 2014

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

scientific article

Microstructural White Matter Properties Mediate the Association between APOE and Perceptual Speed in Very Old Persons without Dementia

scientific article published on 7 August 2015

Mild cognitive impairment--beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment

scientific article published in September 2004

Mitochondrial diseases

scientific article published on 01 October 2002

Mitochondrial dysfunction in a transgenic mouse model expressing human amyloid precursor protein (APP) with the Arctic mutation

scientific article published on 26 October 2015

Mitochondrial medicine--recent advances

scientific article

Modulation of the endoplasmic reticulum-mitochondria interface in Alzheimer's disease and related models

scientific article published on 25 April 2013

Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient

scientific article published on November 2011

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

scientific article published on July 2016

Neuropathological characterization of two siblings carrying the MAPT S305S mutation demonstrates features resembling argyrophilic grain disease

scientific article

No association between polymorphisms in the neprilysin promoter region and Swedish Alzheimer's disease patients

scientific article published in February 2003

No common founder for C9orf72 expansion mutation in Sweden

scientific article published on 25 August 2016

No linkage to chromosome 14 in Swedish Alzheimer's disease families

scientific article published in July 1993

Novel CSF biomarkers in genetic frontotemporal dementia identified by proteomics

Novel TARDBP mutations in Nordic ALS patients

scientific article published on 29 March 2012

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

scientific article published on 06 March 2013

Online information and support for carers of people with young-onset dementia: A multi-site randomised controlled pilot study

scientific article published on 26 July 2019

Overall and domain-specific life satisfaction when living with familial Alzheimer's disease risk: A quantitative approach

scientific article

PSEN1ΔE9, APPswe, and APOE4 Confer Disparate Phenotypes in Human iPSC-Derived Microglia

scientific article published on 12 September 2019

Partial tetrasomy 14 associated with multiple malformations

scientific article published on 23 April 2013

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

scientific article published on 19 October 2017

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort

scientific article published in PLoS ONE

Plasma biomarker profiles in autosomal dominant Alzheimer’s disease

scientific article published in 2023

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

scientific article published on 6 April 2018

Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE.

scientific article published on 31 July 2006

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Preclinical cerebrospinal fluid and volumetric magnetic resonance imaging biomarkers in Swedish familial Alzheimer's disease

scientific article published in January 2015

Predicting Cognitive Decline across Four Decades in Mutation Carriers and Non-carriers in Autosomal-Dominant Alzheimer's Disease

scientific article published on 12 January 2017

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

scientific article published on 4 February 2015

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

scientific article published in November 2008

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

scientific article published on 13 November 2017

Progressive neuropathology and cognitive decline in a single Arctic APP transgenic mouse model

scientific article

Putative risk alleles for LATE-NC with hippocampal sclerosis in population-representative autopsy cohorts

scientific article published on 27 August 2019

RHAPSODY - Internet-based support for caregivers of people with young onset dementia: program design and methods of a pilot study.

scientific article

Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

scientific article published on 28 September 2015

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

scientific article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.

scientific article published on 10 May 2018

Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids

scientific article published in December 1997

Regional differences in effects of APOE ε4 on cognitive impairment in non-demented subjects.

scientific article published on 22 September 2011

Resolution of inflammation is altered in Alzheimer's disease

scientific article

SLITRK2 , an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

scientific article published in September 2021

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

scientific article published on 01 December 2019

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: applied to GENFI study

Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer's disease

scientific article published on 8 January 2018

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

Telomerase Gene (hTERT) and Survival: Results From Two Swedish Cohorts of Older Adults

scientific article

The Effects of Gene Mutations on Default Mode Network in Familial Alzheimer's Disease

scientific article published on 29 November 2016

The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

scientific article

The association between APOE ε4 and Alzheimer-type dementia among memory clinic patients is confined to those with a higher education. The DESCRIPA Study

scientific article published in January 2013

The benefits of staying active in old age: physical activity counteracts the negative influence of PICALM, BIN1, and CLU risk alleles on episodic memory functioning

scientific article published on 24 March 2014

The effects of different familial Alzheimer's disease mutations on APP processing in vivo

scientific article published on 16 February 2017

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

scientific article (publication date: September 1992)

The influence of APOE and TOMM40 polymorphisms on hippocampal volume and episodic memory in old age

scientific article published on 22 May 2013

The interactive effect of demographic and clinical factors on hippocampal volume: A multicohort study on 1958 cognitively normal individuals

scientific article published on 28 February 2017

The meaning of living close to a person with Alzheimer disease

scientific article published on 18 March 2016

The obesity related gene, FTO, interacts with APOE, and is associated with Alzheimer's disease risk: a prospective cohort study

scientific article

The pathogenic aβ43 is enriched in familial and sporadic Alzheimer disease

scientific article

The use of grid computing to drive data-intensive genetic research

scientific article

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

scientific article published in Nature Communications

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

White matter changes in familial Alzheimer's disease

scientific article published on 12 March 2015

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

scientific article

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

scientific article published on 06 November 2019

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