The role of tau (MAPT) in frontotemporal dementia and related tauopathies.
paper
Cited
Public
Unavailable
- Authors
- Rademakers, R; Cruts, M; van Broeckhoven, C
- Year
- 2004
- Journal
- Human mutation
- PMID
- 15365985
- DOI
- 10.1002/humu.20086
Tau is a multifunctional protein that was originally identified as a microtubule-associated protein. In patients diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17, mutations in the gene encoding tau (MAPT) have been identified that disrupt the normal binding of tau to tubulin resulting in pathological deposits of hyperphosphorylated tau. Abnormal filamentous tau deposits have been reported as a pathological characteristic in several other neurodegenerative diseases, including frontotemporal dementia, Pick Disease, Alzheimer disease, argyrophilic grain disease, progressive supranuclear palsy, and corticobasal degeneration. In the last five years, extensive research has identified 34 different pathogenic MAPT mutations in 101 families worldwide. In vitro, cell-free and transfected cell studies have provided valuable information on tau dysfunction and transgenic mice carrying human MAPT mutations are being generated to study the influence of MAPT mutations in vivo. This mutation update describes the considerable differences in clinical and pathological presentation of patients with MAPT mutations and summarizes the effect of the different mutations on tau functioning. In addition, the role of tau as a genetic susceptibility factor is discussed, together with the genetic evidence for additional causal genes for tau-positive as well as tau-negative dementia.
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Frontiers in the physiology of male pattern androgenetic alopecia: beyond the androgen horizon. | Altendorf S et al. | β | 2026 | β |
| UK Biobank-centric advances in brain age prediction: a comprehensive review. | Li Y et al. | β | 2026 | β |
| A Model of Traumatic Brain Injury Oligomerizes Tau in Cortical Organoids and Induces Clinically Relevant Pathologies that Synergize with <i>MAPT</i> Mutation. | Shiravi S et al. | β | 2025 | β |
| Cerebrospinal Fluid Biomarkers and Cognition in Alzheimer Disease and Frontotemporal Dementia in a Memory Clinic Setting. | Cayir S et al. | β | 2025 | β |
| Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells. | Wang H et al. | β | 2025 | β |
| Development of a brain-penetrant G9a methylase inhibitor to target Alzheimer's disease-associated proteopathology. | Xie L et al. | β | 2025 | β |
| Epigenome-wide DNA methylation profiling reveals risk genes for migraine and its subtypes. | Liu M et al. | β | 2025 | β |
| Genome-wide analysis of brain age identifies 59 associated loci and unveils relationships with mental and physical health. | Jawinski P et al. | β | 2025 | β |
| Imaging microtubule dynamics: A new frontier in biomarker development for neurodegenerative diseases. | Damuka N et al. | β | 2025 | β |
| Integration of phytochemical profiling and computational approaches to evaluate the neuroprotective potential of <i>Nardostachys jatamansi</i> in Alzheimer's disease. | Shah AJ et al. | β | 2025 | β |
| Molecular mechanisms underlying the neuroprotective effects of polyphenols: implications for cognitive function. | Godos J et al. | β | 2025 | β |
| Nilotinib and imatinib: potential candidates for treatment of dementia and Parkinson's disease through national health insurance data. | Song J et al. | β | 2025 | β |
| No causal links between estradiol and female's brain and mental health using Mendelian randomization. | Oppenheimer H et al. | β | 2025 | β |
| The evolution and application of RNA-focused small molecule libraries. | Taghavi A et al. | β | 2025 | β |
| Transcriptional regulation by PHGDH drives amyloid pathology in Alzheimer's disease. | Chen J et al. | β | 2025 | β |
| Genetic spectrum features and diagnostic accuracy of four plasma biomarkers in 248 Chinese patients with frontotemporal dementia. | Xu T et al. | β | 2024 | β |
| Heterologous expression and fibrillary characterization of the microtubule-binding domain of tau associated with tauopathies. | Peng C et al. | β | 2024 | β |
| Host defense amyloids: Biosensors of the immune system? | Myers C et al. | β | 2024 | β |
| Impact of voluntary exercise training on the metabolic and behavioral characteristics of the rTg4510 transgenic mouse model of frontotemporal dementia. | Fuller OK et al. | β | 2024 | β |
| Optogenetic and chemogenetic approaches for modeling neurological disorders in vivo. | Krut' VG et al. | β | 2024 | β |
| Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis. | Clayton EL et al. | β | 2024 | β |
| The discovery of tau protein. | Kirschner M | β | 2024 | β |
| Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. | Wang H et al. | β | 2024 | β |
| Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models. | Ahmed M et al. | β | 2023 | β |
| Blocking tau transmission by biomimetic graphene nanoparticles. | Zhu R et al. | β | 2023 | β |
| Brain regions show different metabolic and protein arginine methylation phenotypes in frontotemporal dementias and Alzheimer's disease. | Zhang F et al. | β | 2023 | β |
| Complexity of Sex Differences and Their Impact on Alzheimer's Disease. | Kadlecova M et al. | β | 2023 | β |
| Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations. | Voicu V et al. | β | 2023 | β |
| Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring. | Campos AI et al. | β | 2023 | β |
| Electroencephalography in young onset dementia. | Brown CW et al. | β | 2023 | β |
| Frontotemporal lobar degeneration. | Grossman M et al. | β | 2023 | β |
| Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. | Sun Q et al. | β | 2023 | β |
| Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches. | Zecca C et al. | β | 2023 | β |
| Initiation and modulation of Tau protein phase separation by the drug suramin. | Prince PR et al. | β | 2023 | β |
| Literature-based predictions of Mendelian disease therapies. | Deisseroth CA et al. | β | 2023 | β |
| Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants. | De Marchi F et al. | β | 2023 | β |
| Novel brain-penetrant inhibitor of G9a methylase blocks Alzheimerβs disease proteopathology for precision medication | Chen X et al. | β | 2023 | β |
| Receptor-Independent Therapies for Forensic Detainees with Schizophrenia-Dementia Comorbidity. | Sfera A et al. | β | 2023 | β |
| Tauopathy promotes spinal cord-dependent production of toxic amyloid-beta in transgenic monkeys. | Tu Z et al. | β | 2023 | β |
| The Need for Biomarkers in the ALS-FTD Spectrum: A Clinical Point of View on the Role of Proteomics. | Vignaroli F et al. | β | 2023 | β |
| Transgenic Mouse Models for the Study of Neurodegenerative Diseases. | MarΓn-Moreno A et al. | β | 2023 | β |
| Brain Regional Identity and Cell Type Specificity Landscape of Human Cortical Organoid Models. | Magni M et al. | β | 2022 | β |
| Genomic architecture and functional effects of potential human inversion supergenes. | Campoy E et al. | β | 2022 | β |
| Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities. | Ruiz-Barrio I et al. | β | 2022 | β |
| Induction of Oxidative Stress in SH-SY5Y Cells by Overexpression of hTau40 and Its Mitigation by Redox-Active Nanoparticles. | PieΕkowska N et al. | β | 2022 | β |
| Mice expressing P301S mutant human tau have deficits in interval timing. | Larson T et al. | β | 2022 | β |
| Network Theoretical Approach to Explore Factors Affecting Signal Propagation and Stability in Dementia's Protein-Protein Interaction Network. | Lalwani AK et al. | β | 2022 | β |
| Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1. | Eltahir MK et al. | β | 2022 | β |
| Phosphorylated Tau in Alzheimer's Disease and Other Tauopathies. | Rawat P et al. | β | 2022 | β |
| Relevance of plasma biomarkers to pathologies in Alzheimer's disease, Parkinson's disease and frontotemporal dementia. | Chiu PY et al. | β | 2022 | β |
| Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases. | Helm J et al. | β | 2022 | β |
| A Multi-omics Data Resource for Frontotemporal Dementia Research. | Heutink P et al. | β | 2021 | β |
| A Review of the Current Mammalian Models of Alzheimer's Disease and Challenges That Need to Be Overcome. | Mckean NE et al. | β | 2021 | β |
| Genetic interactions in a <i>C. elegans sod-1</i> ALS model: glutamatergic neuron degeneration. | Osborne JF et al. | β | 2021 | β |
| Genetics of Progressive Supranuclear Palsy: A Review. | Wen Y et al. | β | 2021 | β |
| Genetic testing in dementia-A medical genetics perspective. | Huq AJ et al. | β | 2021 | β |
| Knowledge assessment and psychological impact of genetic counseling in people at risk for familial FTD. | Wong B et al. | β | 2021 | β |
| Loss of Lysosomal Proteins Progranulin and Prosaposin Associated with Increased Neurofibrillary Tangle Development in Alzheimer Disease. | Mendsaikhan A et al. | β | 2021 | β |
| Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases. | Kapoor M et al. | β | 2021 | β |
| Neurodegeneration & imperfect ageing: Technological limitations and challenges? | Sundaria N et al. | β | 2021 | β |
| Phenotype Heterogeneity and Genotype Correlation of MAPT Mutations in a Chinese PUMCH Cohort. | Mao C et al. | β | 2021 | β |
| Proteomic discovery in sickle cell disease: Elevated neurogranin levels in children with sickle cell disease. | Lance EI et al. | β | 2021 | β |
| Tau Protein Interaction Partners and Their Roles in Alzheimer's Disease and Other Tauopathies. | Sinsky J et al. | β | 2021 | β |
| A peptide inhibitor of Tau-SH3 interactions ameliorates amyloid-Ξ² toxicity. | Rush T et al. | β | 2020 | β |
| Clearance of intracellular tau protein from neuronal cells via VAMP8-induced secretion. | Pilliod J et al. | β | 2020 | β |
| Defining and predicting transdiagnostic categories of neurodegenerative disease. | Cornblath EJ et al. | β | 2020 | β |
| Development of Novel Chemically-Modified Nucleic Acid Molecules for Efficient Inhibition of Human <i>MAPT</i> Gene Expression. | Chakravarthy M et al. | β | 2020 | β |
| Fyn kinase inhibition reduces protein aggregation, increases synapse density and improves memory in transgenic and traumatic Tauopathy. | Tang SJ et al. | β | 2020 | β |
| Modelling frontotemporal dementia using patient-derived induced pluripotent stem cells. | Lines G et al. | β | 2020 | β |
| Mosaic Somatic Gene Recombination as a Potentially Unifying Hypothesis for Alzheimer's Disease. | Kaeser GE et al. | β | 2020 | β |
| Physiological Tau Interactome in Brain and Its Link to Tauopathies. | Sinsky J et al. | β | 2020 | β |
| Preclinical models of disease and multimorbidity with focus upon cardiovascular disease and dementia. | Shabir O et al. | β | 2020 | β |
| Resurrecting the Mysteries of Big Tau. | Fischer I et al. | β | 2020 | β |
| The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire. | Coppola C et al. | β | 2020 | β |
| Variants in <i>PPP2R2B</i> and <i>IGF2BP3</i> are associated with higher tau deposition. | Ramanan VK et al. | β | 2020 | β |
| Brain age prediction using deep learning uncovers associated sequence variants. | Jonsson BA et al. | β | 2019 | β |
| Chronic traumatic encephalopathy neuropathology might not be inexorably progressive or unique to repetitive neurotrauma. | Iverson GL et al. | β | 2019 | β |
| Gene mutations in a Han Chinese Alzheimer's disease cohort. | Ma L et al. | β | 2019 | β |
| New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders. | Evangelou E et al. | β | 2019 | β |
| Proteomics Approaches for Biomarker and Drug Target Discovery in ALS and FTD. | Hedl TJ et al. | β | 2019 | β |
| rAAV-based brain slice culture models of Alzheimer's and Parkinson's disease inclusion pathologies. | Croft CL et al. | β | 2019 | β |
| Spreading of Ξ±-Synuclein and Tau: A Systematic Comparison of the Mechanisms Involved. | Vasili E et al. | β | 2019 | β |
| The impact of histone post-translational modifications in neurodegenerative diseases. | Cobos SN et al. | β | 2019 | β |
| The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications. | Gossye H et al. | β | 2019 | β |
| USP10 is a critical factor for Tau-positive stress granule formation in neuronal cells. | Piatnitskaia S et al. | β | 2019 | β |
| Frontotemporal dementia: latest evidence and clinical implications. | Young JJ et al. | β | 2018 | β |
| Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis. | Perrone F et al. | β | 2018 | β |
| Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome. | Tilgner H et al. | β | 2018 | β |
| Molecular Genetics of Frontotemporal Dementia Elucidated by <i>Drosophila</i> Models-Defects in Endosomalβ»Lysosomal Pathway. | Vandal SE et al. | β | 2018 | β |
| Recent Insights on Alzheimer's Disease Originating from Yeast Models. | Seynnaeve D et al. | β | 2018 | β |
| Reduced Adrenomedullin Parallels Microtubule Dismantlement in Frontotemporal Lobar Degeneration. | Ferrero H et al. | β | 2018 | β |
| Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia. | Fenoglio C et al. | β | 2018 | β |
| Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. | FernΓ‘ndez MV et al. | β | 2017 | β |
| An inhibitor of the proteasomal deubiquitinating enzyme USP14 induces tau elimination in cultured neurons. | Boselli M et al. | β | 2017 | β |
| Genetic prediction of male pattern baldness. | Hagenaars SP et al. | β | 2017 | β |
| Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America. | Gatto EM et al. | β | 2017 | β |
| In vivo tau PET imaging in dementia: Pathophysiology, radiotracer quantification, and a systematic review of clinical findings. | Hall B et al. | β | 2017 | β |
| Modeling neurodegenerative diseases with patient-derived induced pluripotent cells: Possibilities and challenges. | Poon A et al. | β | 2017 | β |
| Molecular Genetics of Neurodegenerative Dementias. | Hinz FI et al. | β | 2017 | β |
| Rab7A regulates tau secretion. | Rodriguez L et al. | β | 2017 | β |
| Recent advances in the molecular genetics of frontotemporal lobar degeneration. | Rainero I et al. | β | 2017 | β |
| Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis. | Curtis AF et al. | β | 2017 | β |
| Targeted Downregulation of dMyc Suppresses Pathogenesis of Human Neuronal Tauopathies in Drosophila by Limiting Heterochromatin Relaxation and Tau Hyperphosphorylation. | Chanu SI et al. | β | 2017 | β |
| Development of a Scalable, High-Throughput-Compatible Assay to Detect Tau Aggregates Using iPSC-Derived Cortical Neurons Maintained in a Three-Dimensional Culture Format. | Medda X et al. | β | 2016 | β |
| Impaired protein degradation in FTLD and related disorders. | GΓΆtzl JK et al. | β | 2016 | β |
| MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEΙ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium. | Pastor P et al. | β | 2016 | β |
| The role of CHMP2B<sup>Intron5</sup> in autophagy and frontotemporal dementia. | Krasniak CS et al. | β | 2016 | β |
| A novel tau mutation, p.K317N, causes globular glial tauopathy. | Tacik P et al. | β | 2015 | β |
| Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder. | Gan-Or Z et al. | β | 2015 | β |
| Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. | Benussi A et al. | β | 2015 | β |
| Psychiatric symptoms in frontotemporal dementia: epidemiology, phenotypes, and differential diagnosis. | Galimberti D et al. | β | 2015 | β |
| Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier. | Ng AS et al. | β | 2015 | β |
| Frontotemporal lobar degeneration: current perspectives. | Riedl L et al. | β | 2014 | β |
| Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice. | Yan X et al. | β | 2014 | β |
| Mark/Par-1 marking the polarity of migrating neurons. | Reiner O et al. | β | 2014 | β |
| Parkinsonian syndrome in familial frontotemporal dementia. | Siuda J et al. | β | 2014 | β |
| PGRN haploinsufficiency increased Wnt5a signaling in peripheral cells from frontotemporal lobar degeneration-progranulin mutation carriers. | AlquΓ©zar C et al. | β | 2014 | β |
| Preappointment testing for BRAF/KIT mutation in advanced melanoma: a model in molecular data delivery for individualized medicine. | Mounajjed T et al. | β | 2014 | β |
| Targeting the low-hanging fruit of neurodegeneration. | Mason AR et al. | β | 2014 | β |
| The tau of PSP: a long road to treatment. | Golbe LI | β | 2014 | β |
| 17q21.31 microdeletion associated with infantile spasms. | Wray CD | β | 2013 | β |
| Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review. | Pan XD et al. | β | 2013 | β |
| Increased dendritic spine density and tau expression are associated with individual differences in steroidal regulation of male sexual behavior. | Bharadwaj P et al. | β | 2013 | β |
| Magnetic resonance spectroscopy in common dementias. | Kantarci K | β | 2013 | β |
| Mechanisms of granulin deficiency: lessons from cellular and animal models. | Kleinberger G et al. | β | 2013 | β |
| Pathway analysis of genome-wide association studies for Parkinson's disease. | Song GG et al. | β | 2013 | β |
| Spreading of tau pathology in Alzheimer's disease by cell-to-cell transmission. | Mohamed NV et al. | β | 2013 | β |
| Structural determinants of Tau aggregation inhibitor potency. | Schafer KN et al. | β | 2013 | β |
| The role of the innate immune system in Alzheimer's disease and frontotemporal lobar degeneration: an eye on microglia. | Ridolfi E et al. | β | 2013 | β |
| Advances in understanding the molecular basis of frontotemporal dementia. | Rademakers R et al. | β | 2012 | β |
| A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. | Terrone G et al. | β | 2012 | β |
| Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases. | Mills JD et al. | β | 2012 | β |
| Behavioral genetics of neurodegenerative disorders. | Galimberti D et al. | β | 2012 | β |
| Clinical phenotypes and genetic biomarkers of FTLD. | Galimberti D et al. | β | 2012 | β |
| DLB and PDD: a role for mutations in dementia and Parkinson disease genes? | Meeus B et al. | β | 2012 | β |
| Frontotemporal dementia, manifested as schizophrenia, with decreased heterochromatin on chromosome 1. | Gourzis P et al. | β | 2012 | β |
| Frontotemporal lobar degeneration: current knowledge and future challenges. | Cerami C et al. | β | 2012 | β |
| Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management. | Seltman RE et al. | β | 2012 | β |
| Genetics of frontotemporal lobar degeneration. | Galimberti D et al. | β | 2012 | β |
| Locus-specific mutation databases for neurodegenerative brain diseases. | Cruts M et al. | β | 2012 | β |
| Losing protein in the brain: the case of progranulin. | Ghidoni R et al. | β | 2012 | β |
| Mouse models of frontotemporal dementia. | Roberson ED | β | 2012 | β |
| Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. | Jin SC et al. | β | 2012 | β |
| Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. | Li R et al. | β | 2012 | β |
| Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing. | Rigo F et al. | β | 2012 | β |
| Tau isoform composition influences rate and extent of filament formation. | Zhong Q et al. | β | 2012 | β |
| Tau's role in the developing brain: implications for intellectual disability. | Sapir T et al. | β | 2012 | β |
| The genetics and neuropathology of frontotemporal lobar degeneration. | Sieben A et al. | β | 2012 | β |
| The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. | Kara E et al. | β | 2012 | β |
| The unfolded protein response is associated with early tau pathology in the hippocampus of tauopathies. | Nijholt DA et al. | β | 2012 | β |
| Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. | Dubourg C et al. | β | 2011 | β |
| Corticobasal degeneration: a pathologically distinct 4R tauopathy. | Kouri N et al. | β | 2011 | β |
| Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients. | Keyser RJ et al. | β | 2011 | β |
| Tauopathies: one disease or many? | Bouchard M et al. | β | 2011 | β |
| Amyloid beta precursor protein regulates male sexual behavior. | Park JH et al. | β | 2010 | β |
| Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management. | Rabinovici GD et al. | β | 2010 | β |
| FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. | Urwin H et al. | β | 2010 | β |
| Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration. | Galimberti D et al. | β | 2010 | β |
| Genetics of frontotemporal lobar degeneration. | Aswathy PM et al. | β | 2010 | β |
| Loss of tau elicits axonal degeneration in a mouse model of Alzheimer's disease. | Dawson HN et al. | β | 2010 | β |
| Molecular pathways of frontotemporal lobar degeneration. | Sleegers K et al. | β | 2010 | β |
| MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. | Kantarci K et al. | β | 2010 | β |
| Role of progranulin as a biomarker for Alzheimer's disease. | Sleegers K et al. | β | 2010 | β |
| Serine-409 phosphorylation and oxidative damage define aggregation of human protein tau in yeast. | Vanhelmont T et al. | β | 2010 | β |
| Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings. | Lorenzi C et al. | β | 2010 | β |
| Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. | Whitwell JL et al. | β | 2009 | β |
| DCUN1D1 is a risk factor for frontotemporal lobar degeneration. | Villa C et al. | β | 2009 | β |
| Expression QTL and regulatory network analysis of microtubule-associated protein tau gene. | Shen Q et al. | β | 2009 | β |
| Frontotemporal dementia: An updated overview. | Mohandas E et al. | β | 2009 | β |
| Frontotemporal dementias: update on recent developments in molecular genetics and neuropathology. | LisciΔ RM | β | 2009 | β |
| Interactions between BDNF Val66Met polymorphism and early life stress predict brain and arousal pathways to syndromal depression and anxiety. | Gatt JM et al. | β | 2009 | β |
| Modulation and detection of tau aggregation with small-molecule ligands. | Chang E et al. | β | 2009 | β |
| Neuronal migration and neurodegeneration: 2 sides of the same coin. | Reiner O et al. | β | 2009 | β |
| Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. | Tan TY et al. | β | 2009 | β |
| Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. | Benussi L et al. | β | 2009 | β |
| Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. | Colombo R et al. | β | 2009 | β |
| The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration. | Venturelli E et al. | β | 2009 | β |
| The role of CHMP2B in frontotemporal dementia. | Urwin H et al. | β | 2009 | β |
| Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. | Whitwell JL et al. | β | 2009 | β |
| ALS and FTLD: two faces of TDP-43 proteinopathy. | Liscic RM et al. | β | 2008 | β |
| A novel deletion in progranulin gene is associated with FTDP-17 and CBS. | Benussi L et al. | β | 2008 | β |
| CNV and nervous system diseases--what's new? | Gu W et al. | β | 2008 | β |
| CSF biomarkers in frontotemporal lobar degeneration with known pathology. | Bian H et al. | β | 2008 | β |
| Frontotemporal dementia and related disorders: deciphering the enigma. | Josephs KA | β | 2008 | β |
| Gene expression study on peripheral blood identifies progranulin mutations. | Coppola G et al. | β | 2008 | β |
| Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. | Gijselinck I et al. | β | 2008 | β |
| Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum. | van der Zee J et al. | β | 2008 | β |
| Loss of progranulin function in frontotemporal lobar degeneration. | Cruts M et al. | β | 2008 | β |
| MAPT S305I mutation: implications for argyrophilic grain disease. | Kovacs GG et al. | β | 2008 | β |
| Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. | Venturelli E et al. | β | 2008 | β |
| Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps. | Chang E et al. | β | 2008 | β |
| Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. | Borroni B et al. | β | 2008 | β |
| Progranulin locus deletion in frontotemporal dementia. | Gijselinck I et al. | β | 2008 | β |
| Progranulin: normal function and role in neurodegeneration. | Eriksen JL et al. | β | 2008 | β |
| Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. | Webb A et al. | β | 2008 | β |
| Slow vertical saccades in the frontotemporal dementia with motor neuron disease. | Moon SY et al. | β | 2008 | β |
| The tau S305S mutation causes frontotemporal dementia with parkinsonism. | Skoglund L et al. | β | 2008 | β |
| Abnormalities of the nucleus and nuclear inclusions in neurodegenerative disease: a work in progress. | Woulfe JM | β | 2007 | β |
| A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. | Holm IE et al. | β | 2007 | β |
| Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual. | Van Deerlin VM et al. | β | 2007 | β |
| Concept of disease in geriatric psychiatry. | Krishnan KR | β | 2007 | β |
| [Frontotemporal dementia]. | Le Ber I et al. | β | 2007 | β |
| Frontotemporal dementia and mania. | Woolley JD et al. | β | 2007 | β |
| Frontotemporal lobar degeneration: current concepts in the light of recent advances. | Kumar-Singh S et al. | β | 2007 | β |
| Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. | Bruni AC et al. | β | 2007 | β |
| New genes, new dilemmas: FTLD genetics and its implications for families. | Goldman JS et al. | β | 2007 | β |
| No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease. | SΓ‘nchez-Juan P et al. | β | 2007 | β |
| Progranulin in frontotemporal lobar degeneration and neuroinflammation. | Ahmed Z et al. | β | 2007 | β |
| Progranulin null mutations in both sporadic and familial frontotemporal dementia. | Le Ber I et al. | β | 2007 | β |
| Progressive supranuclear palsy: pathology and genetics. | Dickson DW et al. | β | 2007 | β |
| The genetics of frontotemporal dementia. | Haugarvoll K et al. | β | 2007 | β |
| The genetics of frontotemporal lobar degeneration. | Rademakers R et al. | β | 2007 | β |
| The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. | Mackenzie IR et al. | β | 2007 | β |
| The neuropathology of FTD associated With ALS. | Mackenzie IR | β | 2007 | β |
| The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. | Dawson HN et al. | β | 2007 | β |
| A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. | van der Zee J et al. | β | 2006 | β |
| A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. | Mackenzie IR et al. | β | 2006 | β |
| A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | Koolen DA et al. | β | 2006 | β |
| Characteristics of frontotemporal dementia patients with a Progranulin mutation. | Huey ED et al. | β | 2006 | β |
| CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. | Rizzu P et al. | β | 2006 | β |
| Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP. | Josephs KA et al. | β | 2006 | β |
| Frontotemporal dementia. | Roberson ED | β | 2006 | β |
| Genetics of familial and sporadic amyotrophic lateral sclerosis. | Gros-Louis F et al. | β | 2006 | β |
| Genetic variability in CHMP2B and frontotemporal dementia. | Momeni P et al. | β | 2006 | β |
| Global variation in copy number in the human genome. | Redon R et al. | β | 2006 | β |
| Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. | Gass J et al. | β | 2006 | β |
| Profiling alternatively spliced mRNA isoforms for prostate cancer classification. | Zhang C et al. | β | 2006 | β |
| The H2 MAPT haplotype is associated with familial frontotemporal dementia. | Ghidoni R et al. | β | 2006 | β |
| Untangling the tau gene association with neurodegenerative disorders. | Pittman AM et al. | β | 2006 | β |
| Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients. | Gijselinck I et al. | β | 2006 | β |
| Clinicopathological features of the tauopathies. | Murray B et al. | β | 2005 | β |
| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. | Cruts M et al. | β | 2005 | β |
| Interaction between tau and alpha-synuclein proteins is impaired in the presence of P301L tau mutation. | Benussi L et al. | β | 2005 | β |
| Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. | Pittman AM et al. | β | 2005 | β |
| Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. | Neumann M et al. | β | 2005 | β |
| Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. | Dermaut B et al. | β | 2005 | β |