sameAs
TREM2 Variants in Alzheimer's DiseaseTARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSAbundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion diseaseMutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSCharacterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadicsExpanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSAtypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansionA new subtype of frontotemporal lobar degeneration with FUS pathologyTREM2 in CNS homeostasis and neurodegenerative diseaseClinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia.Three sib-pairs of autopsy-confirmed progressive supranuclear palsy.Frontotemporal dementia: a bridge between dementia and neuromuscular diseaseHippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type ANull mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17NEK1 variants confer susceptibility to amyotrophic lateral sclerosisTDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementiaNovel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisTargeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiencyTARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathyIdentification of common variants influencing risk of the tauopathy progressive supranuclear palsy.Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.Genetic and clinical features of progranulin-associated frontotemporal lobar degenerationClinical characterization of bvFTD due to FUS neuropathology.A novel de novo pathogenic mutation in the CACNA1A gene.TARDBP mutations in Parkinson's disease.Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosisPsychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohortFulminant corticobasal degeneration: Agrypnia excitata in corticobasal syndrome.Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation.ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank.A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Sporadic corticobasal syndrome due to FTLD-TDP.Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriersRecent insights into the molecular genetics of dementia
P50
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