Lista de obras - Maria R Almeida - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2015

Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Muenke syndrome with osteochondroma.

artículo científico publicado en 2009

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2022

Lista de obras de Maria R Almeida

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

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

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

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

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

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

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

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

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

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

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

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

Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.

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

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

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

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

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

Muenke syndrome with osteochondroma.

Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations

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

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

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

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

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

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

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

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

SQSTM1 gene as a potential genetic modifier of CADASIL phenotype

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

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

Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration

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