Search
Leader | 00000nz a2200037n 45 0 | ||
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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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996 | ‡2 SUDOC|187820449 | ||
996 | ‡2 ISNI|0000000511637493 | ||
996 | ‡2 PTBNP|1904773 | ||
996 | ‡2 LC|n 2023250449 | ||
996 | ‡2 BLBNB|001208691 | ||
996 | ‡2 LC|n 2019251877 | ||
996 | ‡2 ISNI|0000000067664611 | ||
996 | ‡2 ISNI|0000000068116588 | ||
997 | ‡a 0 0 lived 0 0 ‡9 1 |