scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.B.32080 |
P698 | PubMed publication ID | 22815225 |
P50 | author | Yolande A L Pijnenburg | Q97517231 |
P2093 | author name string | John C van Swieten | |
Mariet W Elting | |||
Petra E Cohn-Hokke | |||
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Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. | Q40051471 | ||
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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro | Q40063451 | ||
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Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His | Q42631618 | ||
Progranulin plasma levels in the diagnosis of frontotemporal dementia | Q42721059 | ||
De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. | Q42735816 | ||
Prospective 10-year surveillance of human prion diseases in Japan. | Q42882583 | ||
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update | Q43073474 | ||
Genetic contribution of FUS to frontotemporal lobar degeneration | Q43177598 | ||
High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types | Q43222788 | ||
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. | Q43298473 | ||
Prevalence and causes of early-onset dementia in Japan: a population-based study | Q43462944 | ||
Presenilin-1-associated abnormalities in regional cerebral perfusion | Q43636981 | ||
Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy | Q43642578 | ||
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. | Q43935848 | ||
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease | Q43994098 | ||
Familial frontotemporal dementia associated with a novel presenilin-1 mutation | Q44020083 | ||
2011 Alzheimer's disease facts and figures | Q44040789 | ||
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R. | Q44640812 | ||
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy | Q44922719 | ||
Frequency and causes of early-onset dementia in a tertiary referral center in Athens | Q45150364 | ||
Pick bodies in a family with presenilin-1 Alzheimer's disease | Q45204462 | ||
Incidence of early-onset dementias in Cambridgeshire, United Kingdom. | Q45291406 | ||
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. | Q45927072 | ||
Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. | Q46745726 | ||
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene | Q46954818 | ||
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques | Q47661255 | ||
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease | Q47679308 | ||
Familial aggregation in frontotemporal dementia | Q47951956 | ||
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu) | Q48160810 | ||
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation | Q48237916 | ||
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study | Q48247819 | ||
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia | Q48250357 | ||
Early-versus late-onset Alzheimer's disease: more than age alone | Q48350571 | ||
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene | Q48384348 | ||
Amyloid, hypometabolism, and cognition in Alzheimer disease: an [11C]PIB and [18F]FDG PET study | Q48387371 | ||
Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease | Q48437807 | ||
Glucose metabolism and PIB binding in carriers of a His163Tyr presenilin 1 mutation | Q48444836 | ||
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease | Q48484561 | ||
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study | Q48791547 | ||
Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations | Q48946579 | ||
A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient | Q49046743 | ||
Genetic risk assessment for adult children of people with Alzheimer's disease: the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study. | Q50747108 | ||
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. | Q51967426 | ||
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease | Q29547554 | ||
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria | Q29614410 | ||
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease | Q29614881 | ||
Amyloid precursor protein trafficking, processing, and function | Q29617429 | ||
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein | Q29619232 | ||
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. | Q30493972 | ||
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration | Q30495415 | ||
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration | Q30503638 | ||
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. | Q32061209 | ||
Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland | Q33394006 | ||
Survival in Alzheimer disease: a multiethnic, population-based study of incident cases | Q33745430 | ||
Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies | Q33747695 | ||
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). | Q33749062 | ||
Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration | Q33830991 | ||
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum | Q33870467 | ||
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration | Q33922335 | ||
Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia | Q33955043 | ||
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease | Q33955976 | ||
The prevalence of frontotemporal dementia | Q33959615 | ||
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin | Q33984548 | ||
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration | Q33999208 | ||
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia | Q34101831 | ||
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia | Q34125553 | ||
Phenotypic correlations in FTDP-17. | Q34133461 | ||
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes | Q34146052 | ||
The diagnosis of young-onset dementia. | Q34165340 | ||
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms | Q34279220 | ||
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes | Q34624775 | ||
Hereditary frontotemporal dementia caused by Tau gene mutations. | Q34627056 | ||
Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop | Q34736093 | ||
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies | Q34901990 | ||
The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice | Q35014661 | ||
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype | Q35043994 | ||
APOE and Alzheimer disease: a major gene with semi-dominant inheritance | Q35181990 | ||
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. | Q35465346 | ||
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees | Q35694218 | ||
Familial aggregation of dementia with Lewy bodies | Q35712599 | ||
Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72 | Q35752001 | ||
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations | Q35776901 | ||
Chromosome 9 ALS and FTD locus is probably derived from a single founder | Q35853974 | ||
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors | Q35889850 | ||
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease | Q36226675 | ||
Repeat expansion in C9ORF72 in Alzheimer's disease | Q36441618 | ||
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia | Q36507684 | ||
Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity. | Q36573186 | ||
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations | Q36583604 | ||
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families | Q36680315 | ||
Incorporating ethnicity into genetic risk assessment for Alzheimer disease: the REVEAL study experience | Q36790121 | ||
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene | Q36962892 | ||
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members | Q37148011 | ||
Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN | Q37180625 | ||
Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease | Q37181302 | ||
Regional analysis of FDG and PIB-PET images in normal aging, mild cognitive impairment, and Alzheimer's disease | Q37219754 | ||
A decade of genetic counseling in frontotemporal dementia affected families: few counseling requests and much familial opposition to testing | Q37253462 | ||
CSF biomarkers in frontotemporal lobar degeneration with known pathology | Q37253492 | ||
Clinical genetics and genetic counseling in Alzheimer disease | Q37299137 | ||
Linking Abeta and tau in late-onset Alzheimer's disease: a dual pathway hypothesis | Q37336139 | ||
Disclosure of APOE genotype for risk of Alzheimer's disease | Q37423417 | ||
The heritability and genetics of frontotemporal lobar degeneration. | Q37425094 | ||
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review. | Q37513928 | ||
The molecular basis of frontotemporal dementia | Q37564674 | ||
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias | Q37713969 | ||
Amyloid-independent mechanisms in Alzheimer's disease pathogenesis | Q37808579 | ||
Behavioural-variant frontotemporal dementia: diagnosis, clinical staging, and management | Q37819287 | ||
Cerebral amyloid angiopathy: a systematic review | Q37868950 | ||
Genetic counseling for frontotemporal dementias | Q37879976 | ||
Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. | Q37929017 | ||
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations | Q38392876 | ||
Frontotemporal lobar degeneration: demographic characteristics of 353 patients | Q38414577 | ||
Subtypes of progressive aphasia: application of the International Consensus Criteria and validation using β-amyloid imaging. | Q38484728 | ||
P433 | issue | 6 | |
P921 | main subject | dementia | Q83030 |
P304 | page(s) | 628-643 | |
P577 | publication date | 2012-07-19 | |
P1433 | published in | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics | Q15762380 |
P1476 | title | Genetics of dementia: update and guidelines for the clinician | |
P478 | volume | 159B |
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