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Items: 1 to 20 of 99

1.

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, Marzano S, Comito F, Valenti V, Zirilli MA, Ghani M, Xi Z, Sato C, Moreno D, Borelli A, Leone RA, St George-Hyslop P, Rogaeva E, Bruni AC.

Neurobiol Aging. 2012 Dec;33(12):2948.e1-2948.e10. doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20.

2.

Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.

Suárez-Calvet M, Dols-Icardo O, Lladó A, Sánchez-Valle R, Hernández I, Amer G, Antón-Aguirre S, Alcolea D, Fortea J, Ferrer I, van der Zee J, Dillen L, Van Broeckhoven C, Molinuevo JL, Blesa R, Clarimón J, Lleó A.

J Neurol Neurosurg Psychiatry. 2014 Jun;85(6):684-91. doi: 10.1136/jnnp-2013-305972. Epub 2013 Dec 4.

PMID:
24309270
3.

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.

Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA.

Brain. 2012 Mar;135(Pt 3):794-806. doi: 10.1093/brain/aws001.

4.

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
5.

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene.

Snowden JS, Hu Q, Rollinson S, Halliwell N, Robinson A, Davidson YS, Momeni P, Baborie A, Griffiths TD, Jaros E, Perry RH, Richardson A, Pickering-Brown SM, Neary D, Mann DM.

Acta Neuropathol. 2011 Jul;122(1):99-110. doi: 10.1007/s00401-011-0816-0. Epub 2011 Mar 20.

PMID:
21424531
6.

Phenotypic signatures of genetic frontotemporal dementia.

Rohrer JD, Warren JD.

Curr Opin Neurol. 2011 Dec;24(6):542-9. doi: 10.1097/WCO.0b013e32834cd442. Review.

PMID:
21986680
7.

Frontotemporal dementia: implications for understanding Alzheimer disease.

Goedert M, Ghetti B, Spillantini MG.

Cold Spring Harb Perspect Med. 2012 Feb;2(2):a006254. doi: 10.1101/cshperspect.a006254. Review.

8.

Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations.

Snowden JS, Adams J, Harris J, Thompson JC, Rollinson S, Richardson A, Jones M, Neary D, Mann DM, Pickering-Brown S.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):497-505. doi: 10.3109/21678421.2015.1074700. Epub 2015 Oct 16.

PMID:
26473392
9.

Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene.

Marcon G, Rossi G, Giaccone G, Giovagnoli AR, Piccoli E, Zanini S, Geatti O, Toso V, Grisoli M, Tagliavini F.

J Alzheimers Dis. 2011;26(3):583-90. doi: 10.3233/JAD-2011-110332.

PMID:
21677378
10.

Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.

Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, Jeong JH, Kim BC, Yoon SJ, Yoon YC, Kim S, Park KC, Choi BO, Na DL, Ki CS, Kim SH.

Neurobiol Aging. 2014 May;35(5):1213.e13-7. doi: 10.1016/j.neurobiolaging.2013.11.033. Epub 2013 Dec 4.

PMID:
24387985
11.

Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images.

Whitwell JL, Boeve BF, Weigand SD, Senjem ML, Gunter JL, Baker MC, DeJesus-Hernandez M, Knopman DS, Wszolek ZK, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA.

Eur J Neurol. 2015 May;22(5):745-52. doi: 10.1111/ene.12675. Epub 2015 Feb 12.

12.

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, Vandenberghe R, De Jonghe P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C; Belgian Neurology consortium..

Brain. 2016 Feb;139(Pt 2):452-67. doi: 10.1093/brain/awv358. Epub 2015 Dec 15.

13.

Low serum progranulin predicts the presence of mutations: a prospective study.

Schofield EC, Halliday GM, Kwok J, Loy C, Double KL, Hodges JR.

J Alzheimers Dis. 2010;22(3):981-4. doi: 10.3233/JAD-2010-101032.

PMID:
20858962
14.

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Janssens J, Philtjens S, Kleinberger G, Van Mossevelde S, van der Zee J, Cacace R, Engelborghs S, Sieben A, Banzhaf-Strathmann J, Dillen L, Merlin C, Cuijt I, Robberecht C, Schmid B, Santens P, Ivanoiu A, Vandenbulcke M, Vandenberghe R, Cras P, De Deyn PP, Martin JJ, Maudsley S, Haass C, Cruts M, Van Broeckhoven C; Belgian Neurology (BELNEU) consortium..

Acta Neuropathol Commun. 2015 Nov 10;3:68. doi: 10.1186/s40478-015-0246-7.

15.

Psychiatric symptoms in frontotemporal dementia: epidemiology, phenotypes, and differential diagnosis.

Galimberti D, Dell'Osso B, Altamura AC, Scarpini E.

Biol Psychiatry. 2015 Nov 15;78(10):684-92. doi: 10.1016/j.biopsych.2015.03.028. Epub 2015 Apr 8. Review.

PMID:
25958088
16.

Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia.

Aswathy PM, Jairani PS, Raghavan SK, Verghese J, Gopala S, Srinivas P, Mathuranath PS.

Neurobiol Aging. 2016 Mar;39:218.e1-3. doi: 10.1016/j.neurobiolaging.2015.11.026. Epub 2015 Dec 8.

17.

White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations.

Paternicò D, Premi E, Gazzina S, Cosseddu M, Alberici A, Archetti S, Cotelli MS, Micheli A, Turla M, Gasparotti R, Padovani A, Borroni B.

Neurobiol Aging. 2016 Feb;38:176-80. doi: 10.1016/j.neurobiolaging.2015.11.011. Epub 2015 Dec 2.

PMID:
26827655
18.

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
19.

Mouse models of frontotemporal dementia.

Roberson ED.

Ann Neurol. 2012 Dec;72(6):837-49. doi: 10.1002/ana.23722. Review.

20.

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN.

Whitwell JL, Weigand SD, Gunter JL, Boeve BF, Rademakers R, Baker M, Knopman DS, Wszolek ZK, Petersen RC, Jack CR Jr, Josephs KA.

Neurology. 2011 Jul 26;77(4):393-8. doi: 10.1212/WNL.0b013e318227047f. Epub 2011 Jul 13.

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