Sant Pau Memory Unit,
Department of Neurology,
Hospital de la Santa Creu I Sant Pau,
Biomedical Research Institute Sant Pau,
Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau
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Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia.
Neurobiology of aging Aug, 2012 | Pubmed ID: 22502998
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Human molecular genetics Feb, 2014 | Pubmed ID: 24057670
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
PloS one , 2013 | Pubmed ID: 24069280
Feasibility of lumbar puncture in the study of cerebrospinal fluid biomarkers for Alzheimer's disease: a multicenter study in Spain.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24254700
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Journal of neurology, neurosurgery, and psychiatry Jun, 2014 | Pubmed ID: 24309270
Posttranslational nitro-glycative modifications of albumin in Alzheimer's disease: implications in cytotoxicity and amyloid-β peptide aggregation.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24503620
Relationship between β-Secretase, inflammation and core cerebrospinal fluid biomarkers for Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2014 | Pubmed ID: 24820015
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.
Science translational medicine Jul, 2014 | Pubmed ID: 24990881
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Neurobiology of aging Nov, 2014 | Pubmed ID: 25042114
Early Cerebellar Hypometabolism in Patients With Frontotemporal Dementia Carrying the C9orf72 Expansion.
Alzheimer disease and associated disorders Oct-Dec, 2015 | Pubmed ID: 25203513
Cerebral amyloid angiopathy-related atraumatic convexal subarachnoid hemorrhage: an ARIA before the tsunami.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism May, 2015 | Pubmed ID: 25735919
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Neurobiology of aging May, 2015 | Pubmed ID: 25796131
Relationship between cortical thickness and cerebrospinal fluid YKL-40 in predementia stages of Alzheimer's disease.
Neurobiology of aging Jun, 2015 | Pubmed ID: 25865441
Prevalence of amyloid PET positivity in dementia syndromes: a meta-analysis.
JAMA May, 2015 | Pubmed ID: 25988463
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Brain : a journal of neurology Dec, 2015 | Pubmed ID: 26152333
Amyloid precursor protein metabolism and inflammation markers in preclinical Alzheimer disease.
Neurology Aug, 2015 | Pubmed ID: 26180139
Behavioural and psychological symptoms of dementia in Down syndrome: Early indicators of clinical Alzheimer's disease?
Cortex; a journal devoted to the study of the nervous system and behavior Dec, 2015 | Pubmed ID: 26343344
Greater specificity for cerebrospinal fluid P-tau231 over P-tau181 in the differentiation of healthy controls from Alzheimer's disease.
Journal of Alzheimer's disease : JAD , 2015 | Pubmed ID: 26444757
Patterns of Performance on the Modified Cued Recall Test in Spanish Adults With Down Syndrome With and Without Dementia.
American journal on intellectual and developmental disabilities Nov, 2015 | Pubmed ID: 26505869
Cerebrospinal Fluid Anti-Amyloid-β Autoantibodies and Amyloid PET in Cerebral Amyloid Angiopathy-Related Inflammation.
Journal of Alzheimer's disease : JAD , 2016 | Pubmed ID: 26639966
Assessing the role of TUBA4A gene in frontotemporal degeneration.
Neurobiology of aging Feb, 2016 | Pubmed ID: 26675813
Progranulin Protein Levels in Cerebrospinal Fluid in Primary Neurodegenerative Dementias.
Journal of Alzheimer's disease : JAD , 2016 | Pubmed ID: 26682689
Periodontal disease's contribution to Alzheimer's disease progression in Down syndrome.
Alzheimer's & dementia (Amsterdam, Netherlands) , 2016 | Pubmed ID: 27239536
Longitudinal brain structural changes in preclinical Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association May, 2017 | Pubmed ID: 27693189
CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.
Molecular neurobiology 11, 2017 | Pubmed ID: 27738874
Feasibility of Lumbar Puncture in the Study of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Subjects with Down Syndrome.
Journal of Alzheimer's disease : JAD , 2017 | Pubmed ID: 27858714
Prevention of dementia, an immediate challenge.
Revista clinica espanola Dec, 2016 | Pubmed ID: 27908380
A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.
Journal of Alzheimer's disease : JAD , 2017 | Pubmed ID: 28059796
Cerebrospinal fluid mitochondrial DNA in the Alzheimer's disease continuum.
Neurobiology of aging 05, 2017 | Pubmed ID: 28089353
Cerebrospinal Fluid Clearance in Alzheimer Disease Measured with Dynamic PET.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine Sep, 2017 | Pubmed ID: 28302766
Cerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome.
Alzheimer's & dementia (Amsterdam, Netherlands) , 2017 | Pubmed ID: 28413821
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Acta neuropathologica Sep, 2017 | Pubmed ID: 28447221
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association Nov, 2017 | Pubmed ID: 28463681
Diagnostic and Prognostic Value of the Combination of Two Measures of Verbal Memory in Mild Cognitive Impairment due to Alzheimer's Disease.
Journal of Alzheimer's disease : JAD , 2017 | Pubmed ID: 28527215
CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration.
Neurology Jul, 2017 | Pubmed ID: 28592456
YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies.
Journal of neuroinflammation 06, 2017 | Pubmed ID: 28599675
The pitfalls of biomarker-based classification schemes.
Alzheimer's & dementia : the journal of the Alzheimer's Association 09, 2017 | Pubmed ID: 28704640
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the expansion mutation.
Journal of neurology, neurosurgery, and psychiatry 02, 2018 | Pubmed ID: 28889094
Cortical microstructural changes along the Alzheimer's disease continuum.
Alzheimer's & dementia : the journal of the Alzheimer's Association 03, 2018 | Pubmed ID: 29080407
Synaptic phosphorylated α-synuclein in dementia with Lewy bodies.
Brain : a journal of neurology Dec, 2017 | Pubmed ID: 29177427
Weight loss in the healthy elderly might be a non-cognitive sign of preclinical Alzheimer's disease.
Oncotarget Dec, 2017 | Pubmed ID: 29285207
Cerebral changes and disrupted gray matter cortical networks in asymptomatic older adults at risk for Alzheimer's disease.
Neurobiology of aging 04, 2018 | Pubmed ID: 29331877
The nonlinear relationship between cerebrospinal fluid Aβ42 and tau in preclinical Alzheimer's disease.
PloS one , 2018 | Pubmed ID: 29415068
The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.
Journal of Alzheimer's disease : JAD , 2018 | Pubmed ID: 29689719
Monoaminergic impairment in Down syndrome with Alzheimer's disease compared to early-onset Alzheimer's disease.
Alzheimer's & dementia (Amsterdam, Netherlands) , 2018 | Pubmed ID: 29780859
Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
The Lancet. Neurology 10, 2018 | Pubmed ID: 30172624
Challenges associated with biomarker-based classification systems for Alzheimer's disease.
Alzheimer's & dementia (Amsterdam, Netherlands) , 2018 | Pubmed ID: 30175226
Decreased CX3CL1 Levels in the Cerebrospinal Fluid of Patients With Alzheimer's Disease.
Frontiers in neuroscience , 2018 | Pubmed ID: 30245615
CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum.
Neurology 10, 2018 | Pubmed ID: 30291183
Elevated YKL-40 and low sAPPβ:YKL-40 ratio in antemortem cerebrospinal fluid of patients with pathologically confirmed FTLD.
Journal of neurology, neurosurgery, and psychiatry 02, 2019 | Pubmed ID: 30297518
Prevalence of Sleep Disorders in Adults With Down Syndrome: A Comparative Study of Self-Reported, Actigraphic, and Polysomnographic Findings.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 10, 2018 | Pubmed ID: 30353801
Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need.
Alzheimer's & dementia : the journal of the Alzheimer's Association 02, 2019 | Pubmed ID: 30555031
Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy.
Brain : a journal of neurology 04, 2019 | Pubmed ID: 30906945
Nanoscale structure of amyloid-β plaques in Alzheimer's disease.
Scientific reports 03, 2019 | Pubmed ID: 30914681
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Acta neuropathologica 08, 2019 | Pubmed ID: 31131421
Exosome release and cargo in Down syndrome.
Developmental neurobiology 07, 2019 | Pubmed ID: 31347291
Agreement of amyloid PET and CSF biomarkers for Alzheimer's disease on Lumipulse.
Annals of clinical and translational neurology 09, 2019 | Pubmed ID: 31464088
Assessing general cognitive and adaptive abilities in adults with Down syndrome: a systematic review.
Journal of neurodevelopmental disorders 08, 2019 | Pubmed ID: 31470792
Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors.
Nature communications 10, 2019 | Pubmed ID: 31628327
The Sant Pau Initiative on Neurodegeneration (SPIN) cohort: A data set for biomarker discovery and validation in neurodegenerative disorders.
Alzheimer's & dementia (New York, N. Y.) , 2019 | Pubmed ID: 31650016
Detection of amyloid beta peptides in body fluids for the diagnosis of alzheimer's disease: Where do we stand?
Critical reviews in clinical laboratory sciences 03, 2020 | Pubmed ID: 31661652
APP-derived peptides reflect neurodegeneration in frontotemporal dementia.
Annals of clinical and translational neurology 12, 2019 | Pubmed ID: 31789459
Atrophy of Basal Forebrain Initiates with Tau Pathology in Individuals at Risk for Alzheimer's Disease.
Cerebral cortex (New York, N.Y. : 1991) 04, 2020 | Pubmed ID: 31799623
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Acta neuropathologica 05, 2020 | Pubmed ID: 31955222
Cortical microstructural correlates of astrocytosis in autosomal-dominant Alzheimer disease.
Neurology 05, 2020 | Pubmed ID: 32291295
Further understanding the connection between Alzheimer's disease and Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's Association 07, 2020 | Pubmed ID: 32544310
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurology(R) neuroimmunology & neuroinflammation 09, 2020 | Pubmed ID: 32587102
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
Lancet (London, England) 06, 2020 | Pubmed ID: 32593336
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurology(R) neuroimmunology & neuroinflammation 09, 2020 | Pubmed ID: 32669313
Obesity impacts brain metabolism and structure independently of amyloid and tau pathology in healthy elderly.
Alzheimer's & dementia (Amsterdam, Netherlands) , 2020 | Pubmed ID: 32743041
Evaluation of biochemical and hematological parameters in adults with Down syndrome.
Scientific reports 08, 2020 | Pubmed ID: 32792619
Cortical microstructure in the amyotrophic lateral sclerosis-frontotemporal dementia continuum.
Neurology 11, 2020 | Pubmed ID: 32913016
Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association 04, 2021 | Pubmed ID: 33196147
Nerve growth factor (NGF) pathway biomarkers in Down syndrome prior to and after the onset of clinical Alzheimer's disease: A paired CSF and plasma study.
Alzheimer's & dementia : the journal of the Alzheimer's Association 04, 2021 | Pubmed ID: 33226181
White Matter Hyperintensities Are No Major Confounder for Alzheimer's Disease Cerebrospinal Fluid Biomarkers.
Journal of Alzheimer's disease : JAD , 2021 | Pubmed ID: 33252070
Plasma Total-Tau and Neurofilament Light Chain as Diagnostic Biomarkers of Alzheimer's Disease Dementia and Mild Cognitive Impairment in Adults with Down Syndrome.
Journal of Alzheimer's disease : JAD , 2021 | Pubmed ID: 33337378
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Nature genetics 03, 2021 | Pubmed ID: 33589841
Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve.
Alzheimer's & dementia : the journal of the Alzheimer's Association 08, 2021 | Pubmed ID: 33590953
Distinctive Oculomotor Behaviors in Alzheimer's Disease and Frontotemporal Dementia.
Frontiers in aging neuroscience , 2020 | Pubmed ID: 33613262
Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration.
JAMA network open 03, 2021 | Pubmed ID: 33704477
AMYQ: An index to standardize quantitative amyloid load across PET tracers.
Alzheimer's & dementia : the journal of the Alzheimer's Association 09, 2021 | Pubmed ID: 33797846
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
Nature communications 06, 2021 | Pubmed ID: 34099642
Use of plasma biomarkers for AT(N) classification of neurodegenerative dementias.
Journal of neurology, neurosurgery, and psychiatry 11, 2021 | Pubmed ID: 34103344
Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity.
Journal of clinical medicine Jun, 2021 | Pubmed ID: 34202784
Association of Apolipoprotein E ɛ4 Allele With Clinical and Multimodal Biomarker Changes of Alzheimer Disease in Adults With Down Syndrome.
JAMA neurology 08, 2021 | Pubmed ID: 34228042
Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer's disease in adults with Down syndrome.
Nature communications 07, 2021 | Pubmed ID: 34262030
Opportunities, barriers, and recommendations in down syndrome research.
Translational science of rare diseases , 2021 | Pubmed ID: 34268067
Risk of intracranial haemorrhage and ischaemic stroke after convexity subarachnoid haemorrhage in cerebral amyloid angiopathy: international individual patient data pooled analysis.
Journal of neurology Mar, 2022 | Pubmed ID: 34272978
Sleep Disorders in Adults with Down Syndrome.
Journal of clinical medicine Jul, 2021 | Pubmed ID: 34300177
Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study.
The Lancet. Neurology 08, 2021 | Pubmed ID: 34302785
Metabolite Signature of Alzheimer's Disease in Adults with Down Syndrome.
Annals of neurology 09, 2021 | Pubmed ID: 34309066
Regional grey matter microstructural changes and volume loss according to disease duration in multiple sclerosis patients.
Scientific reports 08, 2021 | Pubmed ID: 34413373
Association of cortical microstructure with amyloid-β and tau: impact on cognitive decline, neurodegeneration, and clinical progression in older adults.
Molecular psychiatry 12, 2021 | Pubmed ID: 34588623
The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.
Journal of clinical medicine Oct, 2021 | Pubmed ID: 34640600
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
The Lancet. Neurology 11, 2021 | Pubmed ID: 34687637
Neuropathology of a patient with Alzheimer disease treated with low doses of verubecestat.
Neuropathology and applied neurobiology 04, 2022 | Pubmed ID: 34825396
Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia.
Translational neurodegeneration 12, 2021 | Pubmed ID: 34893073
The Aβ1-42/Aβ1-40 ratio in CSF is more strongly associated to tau markers and clinical progression than Aβ1-42 alone.
Alzheimer's research & therapy 02, 2022 | Pubmed ID: 35105351
Hypothalamic pregnenolone mediates recognition memory in the context of metabolic disorders.
Cell metabolism 02, 2022 | Pubmed ID: 35108514
Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.
Frontiers in neurology , 2021 | Pubmed ID: 35115992
Cortical microstructure in primary progressive aphasia: a multicenter study.
Alzheimer's research & therapy 02, 2022 | Pubmed ID: 35139897
Blood amyloid and tau biomarkers as predictors of cerebrospinal fluid profiles.
Journal of neural transmission (Vienna, Austria : 1996) 02, 2022 | Pubmed ID: 35169889
Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.
Journal of neurodevelopmental disorders 03, 2022 | Pubmed ID: 35321660
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Nature genetics 04, 2022 | Pubmed ID: 35379992
Multimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration.
Molecular neurodegeneration 04, 2022 | Pubmed ID: 35395770
Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer's Disease.
Frontiers in neuroscience , 2022 | Pubmed ID: 35431793
Mechanisms Involved in Epileptogenesis in Alzheimer's Disease and Their Therapeutic Implications.
International journal of molecular sciences Apr, 2022 | Pubmed ID: 35457126
Diagnostic Accuracy of Magnetic Resonance Imaging Measures of Brain Atrophy Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Degeneration.
JAMA network open 04, 2022 | Pubmed ID: 35486397
Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.
JAMA network open 05, 2022 | Pubmed ID: 35604690
DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients.
Biomedicines Jun, 2022 | Pubmed ID: 35740400
Myelin loss in C9orf72 hexanucleotide expansion carriers.
Journal of neuroscience research Jun, 2022 | Pubmed ID: 35766328
Network Tau spreading is vulnerable to the expression gradients of and glutamatergic-related genes.
Science translational medicine Jul, 2022 | Pubmed ID: 35895837
Natalia Valle-Tamayo1,2,
Rocío Pérez-González2,3,
Gemma Chiva-Blanch4,5,
Olivia Belbin1,2,
Sara Serrano-Requena1,2,
Sònia Sirisi1,2,
Alba Cervantes González1,2,
Oriol Giró4,5,
Érika Sánchez-Aced1,2,
Oriol Dols-Icardo1,2,
Daniel Alcolea1,2,
María Carmona-Iragui1,2,
Amanda Jimenez4,5,
Alberto Lleó1,2,
Juan Fortea1,2,
M. Florencia Iulita1,2
1Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona,
2, Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED),
3Movement Disorders Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau,
4Department of Endocrinology and Nutrition, Hospital Clínic de Barcelona, August Pi i Sunyer Biomedical Research Institute - IDIBAPS,
5, Spanish Biomedical Research Network in Physiopathology of Obesity and Nutrition (CIBEROBN)
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