|1.||Zhang, Suming: 1 article (10/2007)|
|2.||Li, Xiaoqing: 1 article (10/2007)|
|3.||Xue, Zheng: 1 article (10/2007)|
|4.||St George-Hyslop, P H: 1 article (05/2001)|
|5.||Shoji, S: 1 article (05/2001)|
|6.||Cairns, N J: 1 article (05/2001)|
|7.||Tamaoka, A: 1 article (05/2001)|
|8.||Ishii, K: 1 article (05/2001)|
|9.||Ozawa, K: 1 article (05/2001)|
|10.||Miyatake, F: 1 article (05/2001)|
|1.||Alzheimer Disease (Alzheimer's Disease)
07/01/1994 - "Published studies have demonstrated the presence of the APP717 Val-->Ile mutation in kindreds of British or Japanese origin with early onset familial Alzheimer's disease. "
05/14/1993 - "The APP717 mutations discovered in only a few early onset Alzheimer's disease (AD) families have confirmed the genetic heterogeneity of this disorder. "
05/01/1993 - "APP717 and Alzheimer's disease in Italy."
06/01/1992 - "[Two kindreds with familial Alzheimer's disease--analysis of the APP717 mutation and the mutated genes for the prion protein]."
09/01/1991 - "APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease."
09/01/1998 - "Our findings show that the APP692 mutation leads to morphological abnormalities that are similar to AD, but the morphology of senile plaques is clearly distinct from that described in sporadic and chromosome 14-linked AD patients, in patients with APP717 mutations causing familial, presenile AD and in patients with the APP693 mutation causing HCHWA-D."
05/01/2001 - "Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition."
08/01/1997 - "In order to elucidate the pathological differences in the cerebellum, which may be associated with the cerebellar symptoms, we have investigated morphometrically beta-amyloid deposits, atrocytosis, Purkinje cells and dentate neurons in the cerebellum of 10 FAD patients including two cases with the beta-amyloid precursor protein (APP) gene mutation (APP717 Val-->Ile), 10 SAD patients and 10 non-demented age-matched controls. "
08/01/1992 - "The neuropathologic features of FAD associated with the APP717 mutation in this family include severe neuronal loss, abundant neurofibrillary tangles, amyloid plaques, and amyloid angiopathy. "
|3.||Prion Diseases (Transmissible Spongiform Encephalopathies)
06/01/1992 - "We used genomic DNA from 4 affected members of 2 families to determine whether the disease in these families is associated with a APP717 mutation and the mutated codons, 102, 117, 129, 178 and 200, on the gene for protease-resistance prion protein (PrP) which cause transmissible dementia, Creutzfelt-Jacob disease (CJD) and Gerstmann-Strausler syndrome (GSS).(ABSTRACT TRUNCATED AT 250 WORDS)"
09/01/1994 - "Comparisons with phenotypic features recently detailed in three kindreds (TOR3, F19, ROM) with codon 717 amyloid precursor protein gene mutations (i.e., APP717 FAD) suggested several distinctions: Prominent progressive aphasia, myoclonus, seizures, and paratonia were all apparently less prevalent in APP717 FAD, with language function predominantly spared over the initial disease course. "
05/27/1994 - "Human neuroblastoma (M17) cells transfected with constructs expressing wild-type beta APP or the beta APP717 mutants linked to familial Alzheimer's disease were compared by (i) isolation of metabolically labeled 4-kilodalton A beta from conditioned medium, digestion with cyanogen bromide, and analysis of the carboxyl-terminal peptides released, or (ii) analysis of the A beta in conditioned medium with sandwich enzyme-linked immunosorbent assays that discriminate A beta 1-40 from the longer A beta 1-42. "
|1.||Amyloid (Amyloid Fibrils)
|2.||Flavin-Adenine Dinucleotide (FAD)
|3.||Apolipoproteins E (ApoE)
|6.||amyloid beta-protein (1-40)
|8.||Conditioned Culture Media
|10.||DNA (Deoxyribonucleic Acid)