Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
about
Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaRare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease familiesProgranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models.Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration.An algorithm for genetic testing of frontotemporal lobar degenerationEvidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W MutationGenomics of Dementia: APOE- and CYP2D6-Related Pharmacogenetics.C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.Progranulin: an emerging target for FTLD therapies.C9orf72 hexanucleotide repeat expansions in clinical Alzheimer diseaseHuman genetics as a tool to identify progranulin regulators.Genetics of dementia: update and guidelines for the clinician.Alzheimer's disease genetics: from the bench to the clinic.Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice.Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network.Progranulin gene delivery reduces plaque burden and synaptic atrophy in a mouse model of Alzheimer's disease.The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome.Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by GRN Mutations.Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice.Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.Genetic Heterogeneity of Alzheimer's Disease: Embracing Research Partnerships.Targeting microglia for the treatment of Alzheimer's Disease.Future Trends in the Pharmacogenomics of Brain Disorders and Dementia: Influence of APOE and CYP2D6 Variants.Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
P2860
Q26782984-8377D4FF-C25C-4D21-964C-79AA32F90B2AQ28732285-7F46F788-CEC0-4B57-BED8-51E5E8F2D382Q30592224-55B1B6FF-5134-4815-AB51-6F4F3B97EBDCQ33685394-529CA54A-1354-46A1-943B-D26A99AF1380Q34028511-55DBFACE-C36C-404B-A31B-1F9F6639E755Q34555422-E22D2E0D-E335-463C-840A-B6A977C54928Q35607649-9CBB5289-D71E-4FB1-BCA2-6195315E04E4Q35852564-36ADD232-5B29-4D22-8FD5-DD94DA78B45DQ36576421-B891F451-AABC-4BF4-B717-F06A3995D84DQ36826623-625B9496-9414-40D7-9CF9-2420B1EF369CQ36926919-59ED907C-BED3-4704-90F6-FDFB4FC8A86CQ37882469-BC957246-AAFA-4729-B6ED-C295C0118ED0Q38027808-5B872140-9FDB-41B6-A2FB-B27BD46D86D1Q38225911-74A8FF57-8CD0-41A9-80BC-EF2572BEC0DCQ38606486-053B690A-3F80-4BFE-83F3-8C320DF9BAECQ39030129-FA5CB288-97BC-4A13-8730-45E0682F87B4Q40072194-915D17E1-9CC0-4E78-8D59-A3FE00E7BCFAQ41322257-E6D48A5C-D4F0-4164-9B83-CC6D16274364Q41455989-20068A0B-43E4-480D-AC98-2EC1B8E2D1B0Q41600247-FABF902B-0075-4944-BB2F-86D8BF2A3D04Q48613708-12FCD760-2803-452E-8422-D907CD1BA792Q50157864-DFE35769-70DE-4B98-BE19-1CCF8E04E042Q53376999-74F64A4D-65C7-43DC-954D-3C2901E270B2Q55266735-AFA498C9-7DA3-43A3-A049-A6BFB608BED0Q55691990-3E4729D4-FC26-42F9-8335-6F4F509A108B
P2860
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@ast
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@en
type
label
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@ast
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@en
prefLabel
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@ast
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@en
P2093
P2860
P50
P1433
P1476
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.
@en
P2093
Bradley F Boeve
Brendan J Kelley
Jennifer Adamson
Joseph E Parisi
Karen M Kuntz
Maria Shiung
Matt Baker
Mike Hutton
Wael Haidar
P2860
P304
P356
10.1001/ARCHNEUROL.2010.113
P577
2010-02-01T00:00:00Z