Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg

scientific article published on 20 December 2016

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/BPA.12480
P698PubMed publication ID27997711

P50authorGabor G. KovacsQ41878022
Veronica RedaelliQ57157521
Emanuela MadernaQ61918770
Fabrizio TagliaviniQ63409934
Andrea SalmaggiQ89465121
Giorgio GiacconeQ90237891
Giacomina RossiQ102132252
Paola CaroppoQ114429233
Elena PiccoliQ114429234
Marina GrisoliQ117238353
Francesca CacciatoreQ117238377
Sonia SpinelloQ117238379
P2093author name stringGiuliano Sozzi
P2860cites workThe genetics and neuropathology of frontotemporal lobar degenerationQ24615201
The genetic landscape of Alzheimer disease: clinical implications and perspectivesQ26796582
Neuropathological stageing of Alzheimer-related changesQ27860862
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Q28253651
A thorough assessment of benign genetic variability in GRN and MAPT.Q33624840
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a reviewQ33726688
A neuropsychological instrument adding to the description of patients with suspected cortical dementia: the Milan overall dementia assessmentQ33733444
Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's DiseaseQ33955976
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's diseaseQ34538196
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageQ36017101
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypesQ36227050
Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersQ37148011
Pathogenic cysteine mutations affect progranulin function and production of mature granulinsQ39760142
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer diseaseQ46813677
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.Q51973117
P433issue1
P921main subjectAlzheimer's diseaseQ11081
frontotemporal lobar degenerationQ18579
P304page(s)72-76
P577publication date2016-12-20
P1433published inBrain PathologyQ4955776
P1476titleAlzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg
P478volume28

Reverse relations

cites work (P2860)
Q92232193An update on genetic frontotemporal dementia
Q50157864Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships
Q41455989Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations

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