222 related articles for article (PubMed ID: 30475763)
1. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia.
Guven G; Bilgic B; Tufekcioglu Z; Erginel Unaltuna N; Hanagasi H; Gurvit H; Singleton A; Hardy J; Emre M; Gulec C; Bras J; Guerreiro R; Lohmann E
J Alzheimers Dis; 2019; 67(1):159-167. PubMed ID: 30475763
[TBL] [Abstract][Full Text] [Related]
2. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
Sassi C; Capozzo R; Gibbs R; Crews C; Zecca C; Arcuti S; Copetti M; Barulli MR; Brescia V; Singleton AB; Logroscino G
J Alzheimers Dis; 2016 May; 53(2):475-85. PubMed ID: 27258413
[TBL] [Abstract][Full Text] [Related]
3. Progranulin as a therapeutic target for dementia.
Galimberti D; Fenoglio C; Scarpini E
Expert Opin Ther Targets; 2018 Jul; 22(7):579-585. PubMed ID: 29889573
[TBL] [Abstract][Full Text] [Related]
4. Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.
Alquézar C; de la Encarnación A; Moreno F; López de Munain A; Martín-Requero Á
J Psychiatry Neurosci; 2016 Jun; 41(4):225-39. PubMed ID: 26624524
[TBL] [Abstract][Full Text] [Related]
5. Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations.
Huang M; Modeste E; Dammer E; Merino P; Taylor G; Duong DM; Deng Q; Holler CJ; Gearing M; Dickson D; Seyfried NT; Kukar T
Acta Neuropathol Commun; 2020 Oct; 8(1):163. PubMed ID: 33028409
[TBL] [Abstract][Full Text] [Related]
6. Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations.
Arrant AE; Roth JR; Boyle NR; Kashyap SN; Hoffmann MQ; Murchison CF; Ramos EM; Nana AL; Spina S; Grinberg LT; Miller BL; Seeley WW; Roberson ED
Acta Neuropathol Commun; 2019 Dec; 7(1):218. PubMed ID: 31870439
[TBL] [Abstract][Full Text] [Related]
7. Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Almeida MR; Tábuas-Pereira M; Baldeiras I; Lima M; Durães J; Massano J; Pinto M; Cruto C; Santana I
Int J Mol Sci; 2023 Dec; 25(1):. PubMed ID: 38203682
[TBL] [Abstract][Full Text] [Related]
8. Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.
Wilke C; Gillardon F; Deuschle C; Hobert MA; Jansen IE; Metzger FG; Heutink P; Gasser T; Maetzler W; Blauwendraat C; Synofzik M
Neurodegener Dis; 2017; 17(2-3):83-88. PubMed ID: 27760429
[TBL] [Abstract][Full Text] [Related]
9. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V; Barbier M; Bottani A; Lobrinus JA; Clot F; Lamari F; Chat L; Rucheton B; Fluchère F; Auvin S; Myers P; Gelot A; Camuzat A; Caillaud C; Jornéa L; Forlani S; Saracino D; Duyckaerts C; Brice A; Durr A; Le Ber I
Brain; 2020 Jan; 143(1):303-319. PubMed ID: 31855245
[TBL] [Abstract][Full Text] [Related]
10. Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis.
Arrant AE; Onyilo VC; Unger DE; Roberson ED
J Neurosci; 2018 Feb; 38(9):2341-2358. PubMed ID: 29378861
[TBL] [Abstract][Full Text] [Related]
11. Rare exonic variant affects GRN splicing and contributes to frontotemporal lobar degeneration.
Wauters E; Gossye H; Frydas A; Sieben A; Van Broeckhoven C
Neurobiol Aging; 2023 Oct; 130():61-69. PubMed ID: 37459659
[TBL] [Abstract][Full Text] [Related]
12. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.
Mukherjee O; Wang J; Gitcho M; Chakraverty S; Taylor-Reinwald L; Shears S; Kauwe JS; Norton J; Levitch D; Bigio EH; Hatanpaa KJ; White CL; Morris JC; Cairns NJ; Goate A
Hum Mutat; 2008 Apr; 29(4):512-21. PubMed ID: 18183624
[TBL] [Abstract][Full Text] [Related]
13. The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE; Bird TD; Bekris LM; Montine TJ; Leverenz JB; Steinbart E; Galloway NM; Feldman H; Woltjer R; Miller CA; Wood EM; Grossman M; McCluskey L; Clark CM; Neumann M; Danek A; Galasko DR; Arnold SE; Chen-Plotkin A; Karydas A; Miller BL; Trojanowski JQ; Lee VM; Schellenberg GD; Van Deerlin VM
Arch Neurol; 2010 Feb; 67(2):161-70. PubMed ID: 20142524
[TBL] [Abstract][Full Text] [Related]
14. The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D; Sellami L; Clot F; Camuzat A; Lamari F; Rucheton B; Benyounes I; Roué-Jagot C; Lagarde J; Sarazin M; Jornea L; Forlani S; LeGuern E; Dubois B; Brice A; Le Ber I
Neurobiol Aging; 2020 Jan; 85():154.e9-154.e11. PubMed ID: 31262553
[TBL] [Abstract][Full Text] [Related]
15. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.
Sellami L; Rucheton B; Ben Younes I; Camuzat A; Saracino D; Rinaldi D; Epelbaum S; Azuar C; Levy R; Auriacombe S; Hannequin D; Pariente J; Barbier M; Boutoleau-Bretonnière C; Couratier P; Pasquier F; Deramecourt V; Sauvée M; Sarazin M; Lagarde J; Roué-Jagot C; Forlani S; Jornea L; David I; ; ; LeGuern E; Dubois B; Brice A; Clot F; Lamari F; Le Ber I
Neurobiol Aging; 2020 Jul; 91():167.e1-167.e9. PubMed ID: 32171590
[TBL] [Abstract][Full Text] [Related]
16. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.
Finch N; Baker M; Crook R; Swanson K; Kuntz K; Surtees R; Bisceglio G; Rovelet-Lecrux A; Boeve B; Petersen RC; Dickson DW; Younkin SG; Deramecourt V; Crook J; Graff-Radford NR; Rademakers R
Brain; 2009 Mar; 132(Pt 3):583-91. PubMed ID: 19158106
[TBL] [Abstract][Full Text] [Related]
17. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C; Zhou X; Perkerson RB; Baker M; Jenkins GD; Serie DJ; Ghidoni R; Benussi L; Binetti G; López de Munain A; Zulaica M; Moreno F; Le Ber I; Pasquier F; Hannequin D; Sánchez-Valle R; Antonell A; Lladó A; Parsons TM; Finch NA; Finger EC; Lippa CF; Huey ED; Neumann M; Heutink P; Synofzik M; Wilke C; Rissman RA; Slawek J; Sitek E; Johannsen P; Nielsen JE; Ren Y; van Blitterswijk M; DeJesus-Hernandez M; Christopher E; Murray ME; Bieniek KF; Evers BM; Ferrari C; Rollinson S; Richardson A; Scarpini E; Fumagalli GG; Padovani A; Hardy J; Momeni P; Ferrari R; Frangipane F; Maletta R; Anfossi M; Gallo M; Petrucelli L; Suh E; Lopez OL; Wong TH; van Rooij JGJ; Seelaar H; Mead S; Caselli RJ; Reiman EM; Noel Sabbagh M; Kjolby M; Nykjaer A; Karydas AM; Boxer AL; Grinberg LT; Grafman J; Spina S; Oblak A; Mesulam MM; Weintraub S; Geula C; Hodges JR; Piguet O; Brooks WS; Irwin DJ; Trojanowski JQ; Lee EB; Josephs KA; Parisi JE; Ertekin-Taner N; Knopman DS; Nacmias B; Piaceri I; Bagnoli S; Sorbi S; Gearing M; Glass J; Beach TG; Black SE; Masellis M; Rogaeva E; Vonsattel JP; Honig LS; Kofler J; Bruni AC; Snowden J; Mann D; Pickering-Brown S; Diehl-Schmid J; Winkelmann J; Galimberti D; Graff C; Öijerstedt L; Troakes C; Al-Sarraj S; Cruchaga C; Cairns NJ; Rohrer JD; Halliday GM; Kwok JB; van Swieten JC; White CL; Ghetti B; Murell JR; Mackenzie IRA; Hsiung GR; Borroni B; Rossi G; Tagliavini F; Wszolek ZK; Petersen RC; Bigio EH; Grossman M; Van Deerlin VM; Seeley WW; Miller BL; Graff-Radford NR; Boeve BF; Dickson DW; Biernacka JM; Rademakers R
Lancet Neurol; 2018 Jun; 17(6):548-558. PubMed ID: 29724592
[TBL] [Abstract][Full Text] [Related]
18. Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia.
Holler CJ; Taylor G; McEachin ZT; Deng Q; Watkins WJ; Hudson K; Easley CA; Hu WT; Hales CM; Rossoll W; Bassell GJ; Kukar T
Mol Neurodegener; 2016 Jun; 11(1):46. PubMed ID: 27341800
[TBL] [Abstract][Full Text] [Related]
19. Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Ward ME; Chen R; Huang HY; Ludwig C; Telpoukhovskaia M; Taubes A; Boudin H; Minami SS; Reichert M; Albrecht P; Gelfand JM; Cruz-Herranz A; Cordano C; Alavi MV; Leslie S; Seeley WW; Miller BL; Bigio E; Mesulam MM; Bogyo MS; Mackenzie IR; Staropoli JF; Cotman SL; Huang EJ; Gan L; Green AJ
Sci Transl Med; 2017 Apr; 9(385):. PubMed ID: 28404863
[TBL] [Abstract][Full Text] [Related]
20. Intracellular Proteolysis of Progranulin Generates Stable, Lysosomal Granulins that Are Haploinsufficient in Patients with Frontotemporal Dementia Caused by
Holler CJ; Taylor G; Deng Q; Kukar T
eNeuro; 2017; 4(4):. PubMed ID: 28828399
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]