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List of works by Maria R Almeida

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

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

scientific article published on 20 April 2016

Addition of the Aβ42/40 ratio to the cerebrospinal fluid biomarker profile increases the predictive value for underlying Alzheimer's disease dementia in mild cognitive impairment

scientific article published on 20 March 2018

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause

scientific article published on 01 January 2018

Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients.

scientific article published on 17 January 2017

CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result.

scientific article

Cerebrospinal fluid Aβ40 is similarly reduced in patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease.

scientific article

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

scientific article published on 30 December 2015

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

scientific article published on 25 October 2017

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

scientific article published on 27 April 2017

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

article

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

Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.

scientific article published on 27 April 2012

Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human

scientific article (publication date: August 2003)

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study

scientific article published on 27 December 2018

Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease

scientific article

Iron homeostasis and H63D mutations in alcoholics with and without liver disease

scientific article published on January 2009

MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's disease

scientific article published on 12 December 2015

Muenke syndrome with osteochondroma.

scientific article

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

scientific article published on 7 May 2016

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene

article

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

scientific article

Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles.

scientific article published on 15 June 2018

Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort

scientific article published on 6 September 2013

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

scientific article published on 14 July 2016

Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers

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 mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

scientific article published on 17 February 2018

SQSTM1 gene as a potential genetic modifier of CADASIL phenotype

scientific article published on 20 November 2020

Sporadic Creutzfeldt–Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3γ assay

scientific article published on 03 March 2016

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

scientific article published on 23 December 2016

Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration

scientific article published on 16 March 2018

Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype–phenotype correlation

scientific article published in 2022

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