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8. 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. PubMed ID: 16941492 [TBL] [Abstract][Full Text] [Related]
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11. Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation. Pettersen JA; Patry DG; St George-Hyslop PH; Curry B Can J Neurol Sci; 2011 Jul; 38(4):659-61. PubMed ID: 21672709 [No Abstract] [Full Text] [Related]
12. A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Aoki M; Abe K; Oda N; Ikeda M; Tsuda T; Kanai M; Shoji M; St George-Hyslop PH; Itoyama Y Neurology; 1997 Apr; 48(4):1118-20. PubMed ID: 9109915 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 17645236 [TBL] [Abstract][Full Text] [Related]
14. 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; 260(1-2):78-82. PubMed ID: 17507029 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 11079548 [TBL] [Abstract][Full Text] [Related]
16. Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). Sodeyama N; Iwata T; Ishikawa K; Mizusawa H; Yamada M; Itoh Y; Otomo E; Matsushita M; Komatsuzaki Y J Neurol Neurosurg Psychiatry; 2001 Oct; 71(4):556-7. PubMed ID: 11561050 [No Abstract] [Full Text] [Related]
18. 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. PubMed ID: 15534188 [TBL] [Abstract][Full Text] [Related]
19. Clinical Association of White Matter Hyperintensities Localization in a Mexican Family with Spastic Paraparesis Carrying the PSEN1 A431E Mutation. Santos-Mandujano RA; Ryan NS; Chávez-Gutiérrez L; Sánchez-Torres C; Meraz-Ríos MA J Alzheimers Dis; 2020; 73(3):1075-1083. PubMed ID: 31884479 [TBL] [Abstract][Full Text] [Related]