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Results: 1 to 20 of 144

1.

Variable phenotype of Alzheimer's disease with spastic paraparesis.

Karlstrom H, Brooks WS, Kwok JB, Broe GA, Kril JJ, McCann H, Halliday GM, Schofield PR.

J Neurochem. 2008 Feb;104(3):573-83. Epub 2007 Nov 6. Review.

PMID:
17995932
[PubMed - indexed for MEDLINE]
2.

No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.

Karlstrom H, Kwok JB, Gregory GC, Hallupp M, Brooks WS, Schofield PR.

Neuroreport. 2007 Aug 6;18(12):1267-9.

PMID:
17632280
[PubMed - indexed for MEDLINE]
3.

Variable phenotype of Alzheimer's disease with spastic paraparesis.

Smith MJ, Kwok JB, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R, Hallupp M, Cotton RG, Masters CL, Schofield PR, Brooks WS.

Ann Neurol. 2001 Jan;49(1):125-9.

PMID:
11198283
[PubMed - indexed for MEDLINE]
4.

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.

Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF.

J Neurol Sci. 2007 Sep 15;260(1-2):78-82. Epub 2007 May 15.

PMID:
17507029
[PubMed - indexed for MEDLINE]
5.

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Hattori S, Sakuma K, Wakutani Y, Wada K, Shimoda M, Urakami K, Kowa H, Nakashima K.

Neurosci Lett. 2004 Sep 30;368(3):319-22.

PMID:
15364419
[PubMed - indexed for MEDLINE]
6.

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR.

Brain. 2003 Apr;126(Pt 4):783-91.

PMID:
12615638
[PubMed - indexed for MEDLINE]
Free Article
7.

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D.

Hum Mutat. 2006 Oct;27(10):1063.

PMID:
16941492
[PubMed - indexed for MEDLINE]
8.

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.

Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M.

J Neuropathol Exp Neurol. 2001 May;60(5):483-92.

PMID:
11379823
[PubMed - indexed for MEDLINE]
9.

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.

Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T.

Ann Neurol. 2000 Nov;48(5):806-8.

PMID:
11079548
[PubMed - indexed for MEDLINE]
10.

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T.

Arch Neurol. 2004 Nov;61(11):1773-6.

PMID:
15534188
[PubMed - indexed for MEDLINE]
11.

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs.

Dintchov Traykov L, Mehrabian S, Van den Broeck M, Radoslavova Raycheva M, Cruts M, Kirilova Jordanova A, Van Broeckhoven C.

Am J Alzheimers Dis Other Demen. 2009 Oct-Nov;24(5):404-7. doi: 10.1177/1533317509341464.

PMID:
19797784
[PubMed - indexed for MEDLINE]
12.

Alzheimer's disease with spastic paresis and cotton wool type plaques.

Tabira T, Chui DH, Nakayama H, Kuroda S, Shibuya M.

J Neurosci Res. 2002 Nov 1;70(3):367-72. Review.

PMID:
12391599
[PubMed - indexed for MEDLINE]
13.

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M.

Neurology. 2000 Mar 14;54(5):1103-9.

PMID:
10720282
[PubMed - indexed for MEDLINE]
14.

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Pöyhönen M, Kucera S, Haltia M.

Nat Med. 1998 Apr;4(4):452-5.

PMID:
9546792
[PubMed - indexed for MEDLINE]
15.

Cotton wool plaques in non-familial late-onset Alzheimer disease.

Le TV, Crook R, Hardy J, Dickson DW.

J Neuropathol Exp Neurol. 2001 Nov;60(11):1051-61.

PMID:
11706935
[PubMed - indexed for MEDLINE]
16.

A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.

Jiménez Caballero PE, Lladó A, de Diego Boguna C, Martin Correa E, Serviá Candela M, Marsal Alonso C.

Eur J Neurol. 2008 Sep;15(9):991-4. doi: 10.1111/j.1468-1331.2008.02230.x. Epub 2008 Jul 15. Erratum in: Eur J Neurol. 2009 Jul;16(7):883. Lladó, A [added].

PMID:
18637955
[PubMed - indexed for MEDLINE]
17.

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.

Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL.

Neuropathology. 2007 Jun;27(3):228-32.

PMID:
17645236
[PubMed - indexed for MEDLINE]
18.

A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.

Uttner I, Kirchheiner J, Tumani H, Mottaghy FM, Lebedeva E, Ozer E, Ludolph AC, Huber R, von Arnim CA.

Eur J Neurol. 2010 Apr;17(4):631-3. doi: 10.1111/j.1468-1331.2009.02810.x. Epub 2009 Nov 12.

PMID:
19912322
[PubMed - indexed for MEDLINE]
19.

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.

Takao M, Ghetti B, Hayakawa I, Ikeda E, Fukuuchi Y, Miravalle L, Piccardo P, Murrell JR, Glazier BS, Koto A.

Acta Neuropathol. 2002 Aug;104(2):155-70. Epub 2002 Apr 19.

PMID:
12111359
[PubMed - indexed for MEDLINE]
20.

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

Rudzinski LA, Fletcher RM, Dickson DW, Crook R, Hutton ML, Adamson J, Graff-Radford NR.

Alzheimer Dis Assoc Disord. 2008 Jul-Sep;22(3):299-307. doi: 10.1097/WAD.0b013e3181732399.

PMID:
18580586
[PubMed - indexed for MEDLINE]
Free PMC Article

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