VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q56449161 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241121000159.0
008 241121nneanz||abbn n and d
035 ‎‡a (WKP)Q56449161‏
024 ‎‡a 0000-0002-1889-5469‏ ‎‡2 orcid‏
024 ‎‡a 55981105100‏ ‎‡2 scopus‏
024 ‎‡a 57190193613‏ ‎‡2 scopus‏
035 ‎‡a (OCoLC)Q56449161‏
100 0 ‎‡a Maria R Almeida‏ ‎‡9 it‏ ‎‡9 es‏ ‎‡9 ast‏
375 ‎‡a 2‏ ‎‡2 iso5218‏
400 0 ‎‡a Maria R Almeida‏ ‎‡c researcher‏ ‎‡9 en‏
400 0 ‎‡a Maria R Almeida‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
670 ‎‡a Author's A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats‏
670 ‎‡a Author's ABCA7 p.G215S as potential protective factor for Alzheimer's disease‏
670 ‎‡a Author's 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.‏
670 ‎‡a Author's Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause‏
670 ‎‡a Author's Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients.‏
670 ‎‡a Author's Cerebrospinal fluid Aβ40 is similarly reduced in patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease.‏
670 ‎‡a Author's Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide‏
670 ‎‡a Author's Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene‏
670 ‎‡a Author's Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort‏
670 ‎‡a Author's CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result.‏
670 ‎‡a Author's Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease‏
670 ‎‡a Author's Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer‏
670 ‎‡a Author's Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach‏
670 ‎‡a Author's Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study‏
670 ‎‡a Author's Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.‏
670 ‎‡a Author's Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human‏
670 ‎‡a Author's Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study‏
670 ‎‡a Author's Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease‏
670 ‎‡a Author's Iron homeostasis and H63D mutations in alcoholics with and without liver disease‏
670 ‎‡a Author's MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's disease‏
670 ‎‡a Author's Muenke syndrome with osteochondroma.‏
670 ‎‡a Author's Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations‏
670 ‎‡a Author's No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients‏
670 ‎‡a Author's Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin‏
670 ‎‡a Author's Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene‏
670 ‎‡a Author's Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation‏
670 ‎‡a Author's Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles.‏
670 ‎‡a Author's Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort‏
670 ‎‡a Author's Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.‏
670 ‎‡a Author's Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers‏
670 ‎‡a Author's Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration‏
670 ‎‡a Author's Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.‏
670 ‎‡a Author's Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort‏
670 ‎‡a Author's Sporadic Creutzfeldt–Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3γ assay‏
670 ‎‡a Author's SQSTM1 gene as a potential genetic modifier of CADASIL phenotype‏
670 ‎‡a Author's TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis‏
670 ‎‡a Author's Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration.‏
670 ‎‡a Author's 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
909 ‎‡a (orcid) 0000000218895469‏ ‎‡9 1‏
909 ‎‡a (scopus) 55981105100‏ ‎‡9 1‏
909 ‎‡a (scopus) 57190193613‏ ‎‡9 1‏
912 ‎‡a tbk1mutationspectruminanextendedeuropeanpatientcohortwithfrontotemporaldementiaandamyotrophiclateralsclerosis‏ ‎‡A TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis‏ ‎‡9 1‏
912 ‎‡a raremutationsinsqstm1modifysusceptibilitytofrontotemporallobardegeneration‏ ‎‡A Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration‏ ‎‡9 1‏
912 ‎‡a paneuropeanstudyofthec9orf72repeatassociatedwithftldgeographicprevalencegenomicinstabilityandintermediaterepeats‏ ‎‡A A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats‏ ‎‡9 1‏
919 ‎‡a cerebrospinalfluidaβ40issimilarlyreducedinpatientswithfrontotemporallobardegenerationandalzheimersdisease‏ ‎‡A Cerebrospinal fluid Aβ40 is similarly reduced in patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease.‏ ‎‡9 1‏
919 ‎‡a adenosinedeaminase2andimmunoglobulin1000accuratelydifferentiateadultsneddonssyndromeofunknowncause‏ ‎‡A Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause‏ ‎‡9 1‏
919 ‎‡a abca7pg215saspotentialprotectivefactorforalzheimersdisease‏ ‎‡A ABCA7 p.G215S as potential protective factor for Alzheimer's disease‏ ‎‡9 1‏
919 ‎‡a additionoftheaβ4240ratiotothecerebrospinalfluidbiomarkerprofileincreasesthepredictivevalueforunderlyingalzheimersdiseasedementiainmildcognitiveimpairment‏ ‎‡A 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.‏ ‎‡9 1‏
919 ‎‡a associationbetweenbutyrylcholinesteraseandcerebrospinalfluidbiomarkersinalzheimersdiseasepatients‏ ‎‡A Association between butyrylcholinesterase and cerebrospinal fluid biomarkers in Alzheimer's disease patients.‏ ‎‡9 1‏
919 ‎‡a wholeexomesequencingrevealspsen1andatp7bcombinedvariantsasapossiblecauseofearlyonsetlewybodydementiaacasestudyofgenotypephenotypecorrelation‏ ‎‡A 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 ‎‡9 1‏
919 ‎‡a underlyingbiologicalprocessesinmildcognitiveimpairmentamyloidosisversusneurodegeneration‏ ‎‡A Underlying Biological Processes in Mild Cognitive Impairment: Amyloidosis Versus Neurodegeneration.‏ ‎‡9 1‏
919 ‎‡a sqstm1geneasapotentialgeneticmodifierofcadasilphenotype‏ ‎‡A SQSTM1 gene as a potential genetic modifier of CADASIL phenotype‏ ‎‡9 1‏
919 ‎‡a sporadiccreutzfeldtjakobdiseasediagnosticaccuracyisimprovedbyanewcsfelisa1433γassay‏ ‎‡A Sporadic Creutzfeldt–Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3γ assay‏ ‎‡9 1‏
919 ‎‡a rarevariantsinpld3donotaffectriskforearlyonsetalzheimerdiseaseinaeuropeanconsortiumcohort‏ ‎‡A Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort‏ ‎‡9 1‏
919 ‎‡a rarenonsynonymousvariantsinsort1areassociatedwithincreasedriskforfrontotemporaldementia‏ ‎‡A Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.‏ ‎‡9 1‏
919 ‎‡a quantitativegeneticsvalidatespreviousgeneticvariantsandidentifiesnovelgeneticplayersinfluencingalzheimersdiseasecerebrospinalfluidbiomarkers‏ ‎‡A Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers‏ ‎‡9 1‏
919 ‎‡a pseudohypoparathyroidismtype1bwithneurologicalinvolvementisassociatedwithahomozygouspth1rmutation‏ ‎‡A Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.‏ ‎‡9 1‏
919 ‎‡a progranulinperipherallevelsasascreeningtoolfortheidentificationofsubjectswithprogranulinmutationsinaportuguesecohort‏ ‎‡A Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort‏ ‎‡9 1‏
919 ‎‡a prognosticstratificationofadultprimaryglioblastomamultiformepatientsbasedontheirtumorgeneamplificationprofiles‏ ‎‡A Prognostic stratification of adult primary glioblastoma multiforme patients based on their tumor gene amplification profiles.‏ ‎‡9 1‏
919 ‎‡a portuguesefamilywiththecooccurrenceoffrontotemporallobardegenerationandneuronalceroidlipofuscinosisphenotypesduetoprogranulingenemutation‏ ‎‡A Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation‏ ‎‡9 1‏
919 ‎‡a portuguesecaseofsmithmccortsyndromecausedbyanewmutationinthedymeclinflj20071gene‏ ‎‡A Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene‏ ‎‡9 1‏
919 ‎‡a portuguesecaseofsmithmccortsyndromecausedbyanewmutationinthedymeclin‏ ‎‡A Portuguese case of Smith–McCort syndrome caused by a new mutation in the Dymeclin‏ ‎‡9 1‏
919 ‎‡a nosupportiveevidencefortia1genemutationsinaeuropeancohortofalsftdspectrumpatients‏ ‎‡A No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients‏ ‎‡9 1‏
919 ‎‡a neuroimagingcorrelatesoffrontotemporaldementiaassociatedwithsqstm1mutations‏ ‎‡A Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations‏ ‎‡9 1‏
919 ‎‡a muenkesyndromewithosteochondroma‏ ‎‡A Muenke syndrome with osteochondroma.‏ ‎‡9 1‏
919 ‎‡a micrornaderegulationandchemotaxisandphagocytosisimpairmentinalzheimersdisease‏ ‎‡A MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's disease‏ ‎‡9 1‏
919 ‎‡a ironhomeostasisandh63dmutationsinalcoholicswithandwithoutliverdisease‏ ‎‡A Iron homeostasis and H63D mutations in alcoholics with and without liver disease‏ ‎‡9 1‏
919 ‎‡a influenceofbutyrylcholinesteraseinprogressionofmildcognitiveimpairmenttoalzheimersdisease‏ ‎‡A Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease‏ ‎‡9 1‏
919 ‎‡a increasedriskofmelanomainc9orf72repeatexpansioncarriersacasecontrolstudy‏ ‎‡A Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study‏ ‎‡9 1‏
919 ‎‡a identificationofstk6stk15asacandidatelowpenetrancetumorsusceptibilitygeneinmouseandhuman‏ ‎‡A Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human‏ ‎‡9 1‏
919 ‎‡a glucocerebrosidaseinvolvementinparkinsondiseaseandothersynucleinopathies‏ ‎‡A Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.‏ ‎‡9 1‏
919 ‎‡a geneticvariabilityinsqstm1andriskofearlyonsetalzheimerdementiaaeuropeanearlyonsetdementiaconsortiumstudy‏ ‎‡A Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study‏ ‎‡9 1‏
919 ‎‡a detectionofmutationsinmismatchrepairgenesinportuguesefamilieswithhereditarynonpolyposiscolorectalcancerhnpccbyamultimethodapproach‏ ‎‡A Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach‏ ‎‡9 1‏
919 ‎‡a detectionofmutationsinmismatchrepairgenesinportuguesefamilieswithhereditarynonpolyposiscolorectalcancer‏ ‎‡A Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer‏ ‎‡9 1‏
919 ‎‡a deleteriousabca7mutationsandtranscriptrescuemechanismsinearlyonsetalzheimersdisease‏ ‎‡A Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease‏ ‎‡9 1‏
919 ‎‡a csftauproteinsreducemisdiagnosisofsporadiccreutzfeldtjakobdiseasesuspectedcaseswithinconclusive1433result‏ ‎‡A CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result.‏ ‎‡9 1‏
919 ‎‡a commonandraretbk1variantsinearlyonsetalzheimerdiseaseinaeuropeancohort‏ ‎‡A Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort‏ ‎‡9 1‏
919 ‎‡a characterizationofanftldpdbfamilywiththecoexistenceofsqstm1mutationandhexanucleotideg4c2repeatexpansioninc9orf72gene‏ ‎‡A Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene‏ ‎‡9 1‏
919 ‎‡a characterizationofanftldpdbfamilywiththecoexistenceofsqstm1mutationandhexanucleotide‏ ‎‡A Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide‏ ‎‡9 1‏
946 ‎‡a a‏ ‎‡9 1‏
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997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏