scholarly article | Q13442814 |
P356 | DOI | 10.1111/J.1468-1331.2008.02069.X |
P698 | PubMed publication ID | 18284428 |
P50 | author | Ian Law | Q20984800 |
P2093 | author name string | J E Nielsen | |
M Schwartz | |||
G Waldemar | |||
I E Holm | |||
J Stokholm | |||
M Batbayli | |||
S G Lindquist | |||
P2860 | cites work | Guidelines for the molecular genetics predictive test in Huntington's disease | Q22306172 |
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 | Q28253639 | ||
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 | Q28253651 | ||
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 | Q28274687 | ||
Neuropathologic, biochemical, and molecular characterization of the frontotemporal dementias | Q30989766 | ||
Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration | Q33685317 | ||
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. | Q38435579 | ||
Inheritance of frontotemporal dementia | Q41679025 | ||
FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells | Q43519306 | ||
Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotype | Q43601565 | ||
Discrimination between Alzheimer dementia and controls by automated analysis of multicenter FDG PET. | Q44249033 | ||
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe | Q44601555 | ||
The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy | Q44922719 | ||
Decline of cerebral glucose metabolism in frontotemporal dementia: a longitudinal 18F-FDG-PET-study. | Q46920843 | ||
Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease | Q47592773 | ||
Phenotypic variation in hereditary frontotemporal dementia with tau mutations | Q48096039 | ||
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. | Q48338403 | ||
An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies | Q48609551 | ||
Autosomal dominant dementia with widespread neurofibrillary tangles. | Q48614844 | ||
Early-onset, rapidly progressive familial tauopathy with R406W mutation | Q48665110 | ||
Metabolic reduction in the posterior cingulate cortex in very early Alzheimer's disease | Q48671019 | ||
Familial presenile dementia with bitemporal atrophy. | Q52000169 | ||
P433 | issue | 4 | |
P921 | main subject | Alzheimer's disease | Q11081 |
phenotype | Q104053 | ||
P304 | page(s) | 377-385 | |
P577 | publication date | 2008-02-16 | |
P1433 | published in | European Journal of Neurology | Q15757256 |
P1476 | title | Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation | |
P478 | volume | 15 |
Q37198563 | 18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers |
Q38225911 | Alzheimer's disease genetics: from the bench to the clinic |
Q34555422 | An algorithm for genetic testing of frontotemporal lobar degeneration |
Q64103820 | Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry |
Q36576421 | C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic |
Q36926919 | C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease |
Q38350075 | Cellular factors modulating the mechanism of tau protein aggregation |
Q34987511 | Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers |
Q38749513 | Chronic consumption of Annona muricata juice triggers and aggravates cerebral tau phosphorylation in wild-type and MAPT transgenic mice. |
Q40110802 | Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport |
Q35607649 | Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation |
Q48568406 | FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G. |
Q38101089 | From frontotemporal lobar degeneration pathology to frontotemporal lobar degeneration biomarkers. |
Q48463219 | Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques |
Q36067164 | Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells |
Q48613708 | Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population |
Q53396036 | Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. |
Q38027808 | Genetics of dementia: update and guidelines for the clinician |
Q50026038 | In vivo 18F-AV-1451 tau-PET signal in MAPT mutation carriers varies by expected tau isoforms |
Q60045126 | Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP |
Q27020981 | Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging |
Q47280369 | Memantine for the Treatment of Dementia: A Review on its Current and Future Applications. |
Q26750717 | Molecular genetics of early-onset Alzheimer's disease revisited |
Q61853785 | Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia |
Q30572288 | Origins of Alzheimer's disease: reconciling cerebrospinal fluid biomarker and neuropathology data regarding the temporal sequence of amyloid-beta and tau involvement |
Q37146802 | Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation |
Q28732285 | Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families |
Q50587105 | Slowly progressive behavioural presentation in two UK cases with the R406W MAPT mutation. |
Q49686872 | Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. |
Q34680852 | Tau PET imaging: present and future directions |
Q41322257 | The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome |
Q34600755 | The frontotemporal dementia mutation R406W blocks tau's interaction with the membrane in an annexin A2-dependent manner. |
Q28082768 | Three dimensions of the amyloid hypothesis: time, space and 'wingmen' |
Q36410282 | Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier |