Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
about
Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaFrontotemporal dementia and primary progressive aphasia, a reviewProgranulin: at the interface of neurodegenerative and metabolic diseasesACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel ObservationDaf-2 signaling modifies mutant SOD1 toxicity in C. elegansThe spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegenerationGenetic and clinical features of progranulin-associated frontotemporal lobar degenerationThe PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriersDiagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net.Progranulin is expressed within motor neurons and promotes neuronal cell survivalA thorough assessment of benign genetic variability in GRN and MAPT.Disease-related changes in the cerebrospinal fluid metabolome in amyotrophic lateral sclerosis detected by GC/TOFMS.Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression.Linking RNA Dysfunction and Neurodegeneration in Amyotrophic Lateral Sclerosis.Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.Haploinsufficiency of cathepsin D leads to lysosomal dysfunction and promotes cell-to-cell transmission of α-synuclein aggregatesNo major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrumProgranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival.SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK seriesThe two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases.Genetics of amyotrophic lateral sclerosis: an update.Update on recent molecular and genetic advances in frontotemporal lobar degeneration.Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.FTD and ALS: a tale of two diseasesEvent-related brain potentials in amyotrophic lateral sclerosis: A review of the international literature.Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management.Clinical Subtypes of Frontotemporal Dementia.Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.Novel exon 1 progranulin gene variant in Alzheimer's disease.Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.Circulating progranulin as a biomarker for neurodegenerative diseasesAngiogenin Prevents Progranulin A9D Mutation-Induced Neuronal-Like Cell Apoptosis Through Cleaving tRNAs into tiRNAs.Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis.Amyotrophic lateral sclerosis-plus syndrome with TAR DNA-binding protein-43 pathologyPlasma progranulin levels in cortical dementia phenotypes with asymmetric perisylvian atrophy.Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis.Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.
P2860
Q26782984-F17DB8B1-59AF-4933-9F34-1B1C6DBD5C7AQ27021040-9F0FA1DD-63A6-42B9-93FA-7E287D429F25Q27024421-799A09E9-C44A-4D2D-AE34-F4FB2732CEE7Q28547127-0C654214-B7E5-4A52-A1D1-E179EA32324BQ28731030-7D16733D-A398-45BB-A154-3FF49BB1A4C1Q30495415-DCDF9C44-E338-4565-9760-9F6AC5A492CCQ30503638-1E2E4984-CCDF-478B-A710-5DC7A63CF657Q31129910-3E2E830A-1A71-4AD7-9D31-426BD4508FA8Q31141202-C7C04D53-A245-4348-9193-7604527FEC5EQ33513028-2023EE29-006B-4D20-A249-793F2D068035Q33624840-14C9BFBB-6B7E-4B8E-BCFB-5DAC0C13CAD0Q33869419-85E392E2-7FC7-4D2A-834A-D1C72B0AD2A6Q34170826-F14B4FA3-2C58-4EB4-98E2-4E914974DB75Q35501802-084BCFF1-19A9-465B-9CA6-F0690A13D7D8Q36003800-AB610B71-ABB2-45FC-8A95-08150AA75B63Q36246469-50AE2888-13EA-4F2F-AE03-C5084200690AQ36438687-5289ED8F-E39E-491F-AFC7-8D14C738B317Q36485513-94AC96AC-468F-43A8-B66E-9F251225BD32Q36527176-6D0EFFA8-B4E6-43E6-A613-89B5A7446168Q36847846-A521DC83-9D7A-4EA3-8BDD-594FC6BACAC7Q36960858-9FEB0748-EEE2-43E1-93F8-757F58172887Q37064056-D2499555-0FBA-46A5-8006-869E3072D877Q37153922-E2A4C91C-7D6B-47A3-BEAC-D612E941CC45Q37205729-FD68DEC4-67B7-494A-A634-510362AD3C4CQ37235164-A1611073-026B-470F-BBA4-988E2A63C5FDQ37241079-76EA2326-7C46-4CDF-A203-5FED20DCADC2Q37468699-21C6B9EC-60A7-4CD6-AC42-D15A435BF74DQ38040822-6D23CB4C-08A7-4608-B9B8-5F094F28E818Q38118236-6636F364-8204-4F6A-8847-940A6DDCC977Q38219206-03820846-590B-4930-8FF2-EC44689E94D6Q38387616-36BFCC12-E473-4E4E-8166-A78448A521EFQ38401876-BDC08E07-F3D9-4C60-9B8C-B20345CFFED8Q39472371-0BC8F51E-7B99-4F2F-A005-7DCDA354DB10Q40356383-608C4E6C-078D-4D62-8105-3DD3C6F1067FQ41595939-FB6E8DFF-9D06-47BF-BCCA-0C0E35109746Q41827797-5CC822D1-90BE-4CC0-B7AE-5873C4C1A0C0Q43447667-CA80B710-8A98-4568-B394-92A1954CFCB4Q45232740-0AB0BAA3-158F-48D8-AB11-08CE6876D0C9Q48388837-C0C01565-585F-44C3-8C95-F9FF0B0318E6Q51868850-D10A1D04-38AB-467E-8D13-4D5133106800
P2860
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@ast
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@en
type
label
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@ast
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@en
prefLabel
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@ast
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@en
P2093
P2860
P50
P356
P1476
Progranulin mutations and amyo ...... totemporal dementia phenotypes
@en
P2093
A B Singleton
B J Traynor
C Dahlberg
G Restagno
J C Schymick
J P Vonsattel
J Rothstein
P2860
P304
P356
10.1136/JNNP.2006.109553
P407
P577
2007-03-19T00:00:00Z