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Items: 1 to 20 of 65

1.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS.; COMMITTEE ON GENETICS, AND.; AMERICAN COLLEGE OF MEDICAL GENETICS AND.; GENOMICS SOCIAL.; ETHICAL.; LEGAL ISSUES COMMITTEE..

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

2.

From FUS to Fibs: what's new in frontotemporal dementia?

Burrell JR, Hodges JR.

J Alzheimers Dis. 2010;21(2):349-60. doi: 10.3233/JAD-2010-091513. Review.

PMID:
20413882
3.

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

Borroni B, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A.

Hum Mutat. 2009 Nov;30(11):E974-83. doi: 10.1002/humu.21100.

PMID:
19655382
4.

The molecular basis of frontotemporal dementia.

Neumann M, Tolnay M, Mackenzie IR.

Expert Rev Mol Med. 2009 Jul 29;11:e23. doi: 10.1017/S1462399409001136. Review.

PMID:
19638255
5.

Familial aggregation of parkinsonism in progressive supranuclear palsy.

Donker Kaat L, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.

Neurology. 2009 Jul 14;73(2):98-105. doi: 10.1212/WNL.0b013e3181a92bcc. Epub 2009 May 20.

PMID:
19458322
6.

Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.

Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D.

Hum Mutat. 2009 Apr;30(4):E591-602. doi: 10.1002/humu.20979.

PMID:
19263483
7.

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.

Rossi G, Marelli C, Farina L, Laurà M, Maria Basile A, Ciano C, Tagliavini F, Pareyson D.

Mov Disord. 2008 Apr 30;23(6):892-5. doi: 10.1002/mds.21970.

PMID:
18307268
8.

A new framework for the diagnosis of Alzheimer's disease.

Foster NL.

Lancet Neurol. 2007 Aug;6(8):667-9. No abstract available.

PMID:
17616483
9.

Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration.

Cairns NJ, Bigio EH, Mackenzie IR, Neumann M, Lee VM, Hatanpaa KJ, White CL 3rd, Schneider JA, Grinberg LT, Halliday G, Duyckaerts C, Lowe JS, Holm IE, Tolnay M, Okamoto K, Yokoo H, Murayama S, Woulfe J, Munoz DG, Dickson DW, Ince PG, Trojanowski JQ, Mann DM; Consortium for Frontotemporal Lobar Degeneration..

Acta Neuropathol. 2007 Jul;114(1):5-22. Epub 2007 Jun 20.

10.

Frontotemporal lobar degeneration: clinical and pathological relationships.

Snowden J, Neary D, Mann D.

Acta Neuropathol. 2007 Jul;114(1):31-8. Epub 2007 Jun 14. Review.

PMID:
17569065
11.

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB.

Nat Genet. 2006 Sep;38(9):999-1001. Epub 2006 Aug 13.

PMID:
16906164
12.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

PMID:
16906163
13.

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.

Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J.

Nat Genet. 2005 Aug;37(8):806-8. Epub 2005 Jul 24.

PMID:
16041373
14.

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM, Pastor P, Pérez-Tur J.

Neurology. 2005 May 10;64(9):1578-85.

PMID:
15883319
15.

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation.

Boeve BF, Tremont-Lukats IW, Waclawik AJ, Murrell JR, Hermann B, Jack CR Jr, Shiung MM, Smith GE, Nair AR, Lindor N, Koppikar V, Ghetti B.

Brain. 2005 Apr;128(Pt 4):752-72. Epub 2004 Dec 22.

PMID:
15615814
16.

Frontotemporal dementia: a randomised, controlled trial with trazodone.

Lebert F, Stekke W, Hasenbroekx C, Pasquier F.

Dement Geriatr Cogn Disord. 2004;17(4):355-9.

PMID:
15178953
17.

The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy.

Ostojic J, Elfgren C, Passant U, Nilsson K, Gustafson L, Lannfelt L, Froelich Fabre S.

Dement Geriatr Cogn Disord. 2004;17(4):298-301.

PMID:
15178940
18.

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE.

Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21.

PMID:
15034582
19.

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene.

Rossi G, Gasparoli E, Pasquali C, Di Fede G, Testa D, Albanese A, Bracco F, Tagliavini F.

Ann Neurol. 2004 Mar;55(3):448. No abstract available.

PMID:
14991829
20.

Paroxetine does not improve symptoms and impairs cognition in frontotemporal dementia: a double-blind randomized controlled trial.

Deakin JB, Rahman S, Nestor PJ, Hodges JR, Sahakian BJ.

Psychopharmacology (Berl). 2004 Apr;172(4):400-8. Epub 2003 Dec 10.

PMID:
14666399

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