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Items: 1 to 20 of 134

1.

Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia.

Momeni P, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.

Clin Neurol Neurosurg. 2010 Dec;112(10):917-20. doi: 10.1016/j.clineuro.2010.07.015.

PMID:
20708332
2.

Closing the tau loop: the missing tau mutation.

McCarthy A, Lonergan R, Olszewska DA, O'Dowd S, Cummins G, Magennis B, Fallon EM, Pender N, Huey ED, Cosentino S, O'Rourke K, Kelly BD, O'Connell M, Delon I, Farrell M, Spillantini MG, Rowland LP, Fahn S, Craig P, Hutton M, Lynch T.

Brain. 2015 Oct;138(Pt 10):3100-9. doi: 10.1093/brain/awv234.

4.

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons.

Iovino M, Pfisterer U, Holton JL, Lashley T, Swingler RJ, Calo L, Treacy R, Revesz T, Parmar M, Goedert M, Muqit MM, Spillantini MG.

Acta Neuropathol. 2014 Feb;127(2):283-95. doi: 10.1007/s00401-013-1219-1.

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6.

Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Ghetti B, Oblak AL, Boeve BF, Johnson KA, Dickerson BC, Goedert M.

Neuropathol Appl Neurobiol. 2015 Feb;41(1):24-46. doi: 10.1111/nan.12213. Review. Erratum in: Neuropathol Appl Neurobiol. 2015 Jun;41(4):571. Neuropathol Appl Neurobiol. 2015 Jun;41(4):571.

7.

Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease.

Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, Bigio EH, Ghetti B, Murrell JR, Delisle MB, Mirra S, Crain B, Zolo P, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, Mackenzie J, Khan N, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Mann DM.

Neuropathol Appl Neurobiol. 2006 Aug;32(4):374-87.

PMID:
16866983
8.

Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.

Ishida C, Kobayashi K, Kitamura T, Ujike H, Iwasa K, Yamada M.

Neuropathology. 2015 Feb;35(1):75-82. doi: 10.1111/neup.12154.

PMID:
25377499
9.

Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family.

Narożańska E, Jasińska-Myga B, Sitek EJ, Robowski P, Brockhuis B, Lass P, Dubaniewicz M, Wieczorek D, Baker M, Rademakers R, Wszolek ZK, Sławek J.

Eur J Neurol. 2011 Mar;18(3):535-7. doi: 10.1111/j.1468-1331.2010.03107.x.

10.

Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation.

Bellucci A, Bugiani O, Ghetti B, Spillantini MG.

Neurodegener Dis. 2011;8(4):221-9. doi: 10.1159/000322228.

11.

Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.

Lossos A, Reches A, Gal A, Newman JP, Soffer D, Gomori JM, Boher M, Ekstein D, Biran I, Meiner Z, Abramsky O, Rosenmann H.

J Neurol. 2003 Jun;250(6):733-40.

PMID:
12796837
12.

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, Heilman KM, Wszolek ZK, Slawek J.

Neurocase. 2014;20(1):69-86. doi: 10.1080/13554794.2012.732087.

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14.

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.

Wren MC, Zhao J, Liu CC, Murray ME, Atagi Y, Davis MD, Fu Y, Okano HJ, Ogaki K, Strongosky AJ, Tacik P, Rademakers R, Ross OA, Dickson DW, Wszolek ZK, Kanekiyo T, Bu G.

Mol Neurodegener. 2015 Sep 15;10:46. doi: 10.1186/s13024-015-0042-7.

15.

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Behnam M, Ghorbani F, Shin JH, Kim DS, Jang H, Nouri N, Sedghi M, Salehi M, Ansari B, Basiri K.

Gene. 2015 Oct 1;570(1):150-2. doi: 10.1016/j.gene.2015.06.033.

PMID:
26086902
16.

Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia.

Neumann M, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.

Neurogenetics. 2005 May;6(2):91-5.

PMID:
15765246
17.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354.

18.

Subcortical neurofibrillary tangles and argyrophilic grains in a case of familial frontotemporal dementia with parkinsonism.

Kobayashi K, Sudo S, Matsubara R, Nakano H, Koshino Y.

Parkinsonism Relat Disord. 2008 Aug;14(6):513-6. doi: 10.1016/j.parkreldis.2007.10.015.

PMID:
18346925
19.

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M.

Nature. 2006 Aug 24;442(7105):916-9.

PMID:
16862116
20.

Juvenile frontotemporal dementia with parkinsonism associated with tau mutation G389R.

Chaunu MP, Deramecourt V, Buée-Scherrer V, Le Ber I, Brice A, Ehrle N, El Hachimi K, Pluot M, Maurage CA, Bakchine S, Buée L.

J Alzheimers Dis. 2013;37(4):769-76. doi: 10.3233/JAD-130413.

PMID:
23948919
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