Progranulin null mutations in both sporadic and familial frontotemporal dementia
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Summary
It is supported that PGRN null mutations represent a more frequent cause of FTD than MAPT mutations but are not responsible for FTD‐MND, and genetic testing should be considered more systematically, even in patients without obvious familial history ofFTD.
- Type
- article
- Published
- 2007-09-01
- Cited by
- 173
- References
- 34
- OpenAlex
- https://openalex.org/W17436289
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:25724211
Keywords
Plume, Jet (fluid), Aerodynamics, Engineering, Meteorology
References
- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
- Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.
- Granulins: the structure and function of an emerging family of growth factors.
- Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval
- Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
- Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43
- Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
- Characteristics of frontotemporal dementia patients with a Progranulin mutation
- Progranulin is a mediator of the wound response
- Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
- Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
- TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
- Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
- The role of tau (MAPT) in frontotemporal dementia and related tauopathies
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
- Progranulin mutations in Dutch familial frontotemporal lobar degeneration
- Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
- Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.
- Tandem repeats finder: a program to analyze DNA sequences.
- Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Cited by
- Phenotypic Variability of Familial and Sporadic Progranulin p.Gln257Profs*27 Mutation
- Molecular Mechanisms of Frontotemporal Lobar Degeneration
- Psychotic Symptoms in Frontotemporal Dementia
- Familial frontotemporal lobar degeneration
- Serum Progranulin Levels in Patients with Frontotemporal Lobar Degeneration and Alzheimer's Disease: Detection of GRN Mutations in a Spanish Cohort
- Frontotemporal Lobar Degeneration.
- Implicación de los genes MAPT y PGRN en la degeneración lobar frontotemporal: mecanismos patgénicos y expresión fenotípica.
- Psychosis in Frontotemporal Dementia
- Frontotemporal Lobar Degeneration
- A Mutation in the 5′-UTR of GRN Gene Associated with Frontotemporal Lobar Degeneration: Phenotypic Variability and Possible Pathogenetic Mechanisms
- MCP-1 A-2518G Polymorphism: Effect on Susceptibility for Frontotemporal Lobar Degeneration and on Cerebrospinal Fluid MCP-1 Levels
- Novel Missense Progranulin Gene Mutation Associated with the Semantic Variant of Primary Progressive Aphasia
- Frontotemporal dementia: a bridge between dementia and neuromuscular disease
- Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism
- GRN Thr272fs Clinical Heterogeneity: A Case with Atypical Late Onset Presenting with a Dementia with Lewy Bodies Phenotype
- Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration
- Novel Progranulin Mutation Detected in 2 Patients With FTLD
- Genetic and Molecular Aspects of Frontotemporal Lobar Degeneration
- Neurodegenerative dementia and Parkinsonism
- Myocardial (123)I-MIBG scintigraphy for differentiation of Lewy bodies disease from FTD.
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