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Items: 1 to 20 of 297

1.

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. Erratum in: Lancet Neurol. 2007 Dec;6(12):1037.

PMID:
17826340
2.

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. doi: 10.1093/brain/awm320. Epub 2008 Jan 29.

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. doi: 10.1093/brain/awm331. Epub 2008 Jan 11.

PMID:
18192287
4.

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. doi: 10.1007/s00401-012-1048-7. Epub 2012 Sep 28.

5.

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, Binetti G.

Neurobiol Dis. 2009 Mar;33(3):379-85. doi: 10.1016/j.nbd.2008.11.008. Epub 2008 Dec 6.

PMID:
19101631
6.

Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration.

Lladó A, Sánchez-Valle R, Rey MJ, Ezquerra M, Tolosa E, Ferrer I, Molinuevo JL; Catalan collaborative Study Group for FTLD.

J Neurol. 2008 Apr;255(4):488-94. doi: 10.1007/s00415-008-0565-8. Epub 2008 Mar 25.

PMID:
18357425
7.

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R.

Hum Mol Genet. 2006 Oct 15;15(20):2988-3001. Epub 2006 Sep 1.

PMID:
16950801
8.

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.

van Swieten JC, Heutink P.

Lancet Neurol. 2008 Oct;7(10):965-74. doi: 10.1016/S1474-4422(08)70194-7. Epub 2008 Sep 2. Review.

PMID:
18771956
9.

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. doi: 10.1093/brain/awn352. Epub 2009 Jan 21.

10.

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. doi: 10.1001/archneurol.2009.328.

11.

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.

Hosaka T, Ishii K, Miura T, Mezaki N, Kasuga K, Ikeuchi T, Tamaoka A.

BMC Neurol. 2017 Sep 15;17(1):182. doi: 10.1186/s12883-017-0959-2. Review.

12.

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW.

Hum Mol Genet. 2008 Dec 1;17(23):3631-42. doi: 10.1093/hmg/ddn257. Epub 2008 Aug 21.

13.

Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes.

Short RA, Graff-Radford NR, Adamson J, Baker M, Hutton M.

Arch Neurol. 2002 Apr;59(4):611-5.

PMID:
11939896
14.

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. doi: 10.1093/brain/awn012. Epub 2008 Feb 1.

PMID:
18245784
15.

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.

Van Langenhove T, van der Zee J, Gijselinck I, Engelborghs S, Vandenberghe R, Vandenbulcke M, De Bleecker J, Sieben A, Versijpt J, Ivanoiu A, Deryck O, Willems C, Dillen L, Philtjens S, Maes G, Bäumer V, Van Den Broeck M, Mattheijssens M, Peeters K, Martin JJ, Michotte A, Santens P, De Jonghe P, Cras P, De Deyn PP, Cruts M, Van Broeckhoven C.

JAMA Neurol. 2013 Mar 1;70(3):365-73. doi: 10.1001/2013.jamaneurol.181.

PMID:
23338682
16.

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.

Kaivorinne AL, Krüger J, Kuivaniemi K, Tuominen H, Moilanen V, Majamaa K, Remes AM.

BMC Neurol. 2008 Dec 17;8:48. doi: 10.1186/1471-2377-8-48.

17.

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

Redaelli V, Rossi G, Maderna E, Kovacs GG, Piccoli E, Caroppo P, Cacciatore F, Spinello S, Grisoli M, Sozzi G, Salmaggi A, Tagliavini F, Giaccone G.

Brain Pathol. 2018 Jan;28(1):72-76. doi: 10.1111/bpa.12480. Epub 2017 Feb 15.

PMID:
27997711
18.

The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.

Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE.

PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017.

19.

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.

PMID:
17620546
20.

Behavioral genetics of neurodegenerative disorders.

Galimberti D, Scarpini E.

Curr Top Behav Neurosci. 2012;12:615-31. Review.

PMID:
22261700

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