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Journal Abstract Search

338 related items for PubMed ID: 18234697

  • 1. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
    Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S.
    Brain; 2008 Mar; 131(Pt 3):706-20. PubMed ID: 18234697
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  • 2. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
    Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M.
    Lancet Neurol; 2007 Oct; 6(10):857-68. PubMed ID: 17826340
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  • 3. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
    Pickering-Brown SM, Rollinson S, Du Plessis D, Morrison KE, Varma A, Richardson AM, Neary D, Snowden JS, Mann DM.
    Brain; 2008 Mar; 131(Pt 3):721-31. PubMed ID: 18192287
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  • 6. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
    Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A, French research network on FTD/FTD-MND.
    Brain; 2008 Mar; 131(Pt 3):732-46. PubMed ID: 18245784
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  • 12. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion.
    Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW.
    Acta Neuropathol; 2013 Feb; 125(2):289-302. PubMed ID: 23053135
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  • 15. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
    Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E.
    Neurology; 2007 Jul 10; 69(2):140-7. PubMed ID: 17620546
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  • 16. A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
    Lashley T, Rohrer JD, Mahoney C, Gordon E, Beck J, Mead S, Warren J, Rossor M, Revesz T.
    Neuropathol Appl Neurobiol; 2014 Jun 10; 40(4):502-13. PubMed ID: 24286341
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