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List of works by Alfredo Ramirez

1st Conference Clinical Trials on Alzheimer’s Disease September 17-18-19, 2008 School of Medecine Montpellier, France

article

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

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel Alzheimer disease locus located near the gene encoding tau protein.

scientific article

A one-degree-of-freedom test for supra-multiplicativity of SNP effects

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 rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2

scientific article published on 15 September 2019

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.

scientific article published on 31 January 2012

ATP13A2 variants in early-onset Parkinson's disease patients and controls

scientific article

Alzheimer's disease risk variants modulate endophenotypes in mild cognitive impairment

scientific article

Alzheimer's disease-associated (hydroxy)methylomic changes in the brain and blood

scientific article published on 27 November 2019

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

scientific article published on 23 September 2011

Analysis of 18F-DMFP PET data using multikernel classification in order to assist the diagnosis of Parkinsonism

scholarly article published October 2015

Apolipoprotein E ε4 does not affect cognitive performance in patients with Parkinson's disease

scientific article published on 19 April 2016

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

scientific article published on 29 December 2016

Association of Parkinson disease to PARK16 in a Chilean sample

scientific article published on 8 October 2010

Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

scientific article published on 17 October 2019

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

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 01 May 2019

Automatic Differentiation between Alzheimer's Disease and Mild Cognitive Impairment Combining PET Data and Psychological Scores

scholarly article published June 2013

Blood-derived integration-free iPS cell line UKBi011-A from a diagnosed male Alzheimer's disease patient with APOE ɛ4/ɛ4 genotype

scientific article published on 23 April 2018

CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE ε4 carriers

scientific article published on 19 May 2020

CLCN2 variants in idiopathic generalized epilepsy

scientific article published on 01 September 2009

CSF total tau levels are associated with hippocampal novelty irrespective of hippocampal volume

scientific article published on 02 November 2018

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

scientific article published on 6 October 2017

Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry

scientific article published on 27 October 2017

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family

scientific article published in December 2001

Circulating metabolites and general cognitive ability and dementia: Evidence from 11 cohort studies

scientific article

Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease

scientific article published in January 2010

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

scientific article published on September 2010

Cognitive behavioural therapy for the treatment of late life depression: study protocol of a multicentre, randomized, observer-blinded, controlled trial (CBTlate)

scientific article published on 27 December 2019

Common polygenic variation enhances risk prediction for Alzheimer's disease

scientific article published on 21 October 2015

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

scientific article published on 7 June 2021

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

scientific article published on 18 January 2020

Corrigendum to "Genome-wide association interaction analysis for Alzheimer's disease." [Neurobiol. Aging 35 (2014) 2436-2443].

scientific article

DNA methylation of the TNF-α promoter region in peripheral blood monocytes and the cortex of human Alzheimer's disease patients

scientific article published on 19 February 2014

Design and first baseline data of the DZNE multicenter observational study on predementia Alzheimer's disease (DELCODE).

scientific article published on 7 February 2018

Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition

Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study

scientific article published on 26 February 2018

Editorial: Searching for the Holy Grail Will Need Biomarkers

scientific article published on 01 January 2020

Eicosapentaenoic Acid Is Associated with Decreased Incidence of Alzheimer's Dementia in the Oldest Old

scientific article published on 30 January 2021

Elevated HbA1c is associated with increased risk of incident dementia in primary care patients

scientific article published on January 2015

Exploring Genetic Associations of Alzheimer’s Disease Loci With Mild Cognitive Impairment Neurocognitive Endophenotypes ⬇️

scientific article published on 30 October 2018

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

scientific article

Frequency of the D620N mutation in VPS35 in Parkinson disease

scientific article published in October 2012

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

scientific article

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

scientific article published on 07 May 2019

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

scientific article published on 08 July 2019

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

scientific article

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

scientific article

Genetic estimators of DNA methylation provide insights into the molecular basis of polygenic traits.

scientific article published on 31 January 2018

Genetic interaction of PICALM and APOE is associated with brain atrophy and cognitive impairment in Alzheimer's disease

scientific article published on 6 March 2014

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

Genome-wide association interaction analysis for Alzheimer's disease

scientific article

Genome-wide significant risk factors for Alzheimer's disease: role in progression to dementia due to Alzheimer's disease among subjects with mild cognitive impairment

scientific article

Genome-wide significant risk factors on chromosome 19 and the APOE locus.

scientific article

Glucocerebrosidase mutations in a Serbian Parkinson's disease population

scientific article published on 20 July 2012

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

scientific journal article

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

scientific article published on 21 March 2011

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

scientific article published in November 2010

Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease

scientific article published on 11 December 2014

Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes

scientific article published on 20 June 2014

Left frontal hub connectivity delays cognitive impairment in autosomal-dominant and sporadic Alzheimer's disease

scientific article published on 15 February 2018

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

scientific article

Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove

scientific journal article

MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium

scientific article

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation

scientific article published on 16 December 2019

Minor neuropsychological deficits in patients with subjective cognitive decline

scientific article published on 07 July 2020

Motor pathway excitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study

scientific article published on 21 November 2011

Multicenter Tract-Based Analysis of Microstructural Lesions within the Alzheimer's Disease Spectrum: Association with Amyloid Pathology and Diagnostic Usefulness

scientific article published on 01 January 2019

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

scientific article

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

scientific article (publication date: July 2001)

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

scientific article (publication date: April 2003)

Neurokinin3 receptor as a target to predict and improve learning and memory in the aged organism

scientific article published on 27 August 2013

New insights into the genetic etiology of Alzheimer's disease and related dementias

scientific article published in April 2022

No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment

scientific article published on 19 April 2016

Novel genetic matching methods for handling population stratification in genome-wide association studies

scientific article published on 14 March 2015

PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment

scientific article published on 12 March 2020

PLD3 in non-familial Alzheimer's disease

scientific article published in April 2015

Population-Based Genetic Studies: The Search for Causative Variants in Parkinson's Disease

scientific article published on 30 July 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Rare variant testing of imputed data: an analysis pipeline typified

scientific article

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

scientific article published on 8 November 2013

Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype

scientific article published on November 2010

Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

scientific article published on 01 April 2019

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 11 December 2017

Resting-State Network Alterations Differ between Alzheimer's Disease Atrophy Subtypes

scientific article published on 01 October 2021

Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

scientific article published on 01 September 2009

SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease

scientific article

Search for risk genes in Alzheimer's disease

scientific article published on 2 June 2017

Structural imaging in the presymptomatic stage of genetically determined parkinsonism

scientific article

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 29 May 2018

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

scientific article published on 23 December 2016

THE APOE-ε4 ALLELE AND AGE SYNERGISTICALLY DRIVE DISEASE PROGRESSION IN ALZHEIMER’S DISEASE

scholarly article in Innovation in Aging, vol. 3, Suppl 1, November 2019

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

scientific article

TREM2 rare variant p.R47H is not associated with Parkinson's disease

scientific article

The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease

scientific article published on 21 March 2019

The association between genome-wide polymorphisms and chronic postoperative pain: a prospective observational study

scientific article published on 01 January 2020

The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk.

scientific article

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease

scientific article published on 31 January 2019

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

scientific article published on 11 July 2022

Which features of subjective cognitive decline are related to amyloid pathology? Findings from the DELCODE study

scientific article published on 31 July 2019

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

scientific article (publication date: April 2013)

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