[PDF] Top 20 Sobre el perfil metodológico de la historia conceptual
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A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
... probably pathogenic PSEN1 ...p.W165C) mutation. Interestingly, Trp165Cys mutation is located in trans membrane (TM)-III region, which is conserved between ...that PSEN1 ... See full document
8
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease
... Abstract: Early-onset Alzheimer’s disease (EOAD) has distinct clinical characteristics in com- parison to late-onset Alzheimer’s disease ...no mutation screening study has been ... See full document
15
<p>Early-onset Alzheimer’s disease patient with prion <em>(PRNP)</em> p.Val180Ile mutation</p>
... the disease is approximately one to two cases per million per ...prion disease with rapidly progressive dementia, cerebellar ataxia, myoclonus, and behavioral ...prion disease could be caused by ... See full document
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Identification of a novel mutation in <em>APP</em> gene in a Thai subject with early-onset Alzheimer's disease
... novel mutation of APP Val604Met was discovered in a Thai EOAD patient with probable autosomal dominant inheritance ...other pathogenic mutation has been reported at APP codon ...the mutation ... See full document
30
A case of possibly pathogenic<em> PSEN2</em> R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction
... Venereal Disease Research Laboratory (VDRL) results, including those for Treponema pallidum particle agglutination assay (TPHA), were ...Alzheimer’s Disease and Related Disorder Association, which were ... See full document
29
Laminar distribution of β-amyloid (Aβ) peptide deposits in the frontal lobe in familial and sporadic Alzheimer's disease
... Alzheimer’s disease (AD), the laminar distributions of diffuse, primitive, and classic β-amyloid (Aβ) peptide deposits were compared in early-onset familial AD (EO-FAD) linked to mutations of the ... See full document
27
Moving beyond anti-amyloid therapy for the prevention and treatment of Alzheimer’s disease
... all associated with cholesterol metabolism, endocytosis (an essential part of cholesterol processing), and inflamma- tion [28-30] This evidence, together with imaging stud- ies showing that Aβ accumulation can be ... See full document
5
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early onset Alzheimer’s disease
... Alzheimer’s disease (AD) was estimated to cause 500,000 deaths in the ...Sporadic early-onset Alzheimer’s disease (sEOAD) patients have a disease onset ≤ 65 years of age and do ... See full document
47
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
... p.A152T mutation increases risk for developing neurode- generative diseases by influencing tau accumulation ...of Alzheimer ’ s type changes with a high probability of disease, combined with ... See full document
16
Mutations, associated with early-onset Alzheimer’s disease, discovered in Asian countries
... Alzheimer’s disease (AD), the most common form of senile dementia, is a genetically complex ...mutations associated with AD in Korea, the People’s Republic of China, and ...three early-onset ... See full document
8
A pathogenic <em>PSEN2</em> p.His169Asn mutation associated with early-onset Alzheimer’s disease
... dominant early-onset Alzheimer’s disease (EOAD) is genetically hetero- geneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), ... See full document
39
PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea
... PolyPhen-2 prediction suggested this mutation as “probably damaging” variant with both 1.00 HumDiv and HumVar scores. Multiple sequence alignment suggested that L226 might be conservative among the presenilin-or ... See full document
22
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction
... members were found, since his sister and mother also showed clinical symptoms. All of these patients showed rapid progression of dementia, with memory impair- ment, amnesia, aphasia, disorientation and personality ... See full document
11
Assessing cognition and daily function in early dementia using the cognitive-functional composite: findings from the Catch-Cog study cohort
... Several other endeavors have been undertaken to de- sign and validate composite measures that are more ap- propriate to assess changes earlier clinical stages of AD. These composites range from purely statistically ... See full document
6
Late onset Alzheimer’s disease in older people
... The clinical development of new agents for symptomatic and disease-modifying treatment of AD has resulted in both promise and disappointment. Despite the fact that no new compound for the treatment of AD has been ... See full document
12
Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels
... Data (ADGC and IGAP) and methods for AD risk analyses We used two datasets for connecting the loci to AD risk through AD case/control data. We used the ADGC as our primary analyses but also report the results from IGAP. ... See full document
121
Bilingualism as a strategy to delay the onset of Alzheimer’s disease
... bilingual advantage differ as the findings from the selected research studies shown in Tables 1 and 2. Almost all retro- spective studies in Table 2 demonstrate the delay of the onset of dementia by 4.5 years and ... See full document
6
Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia
... The small sample size, particularly of the NP-C group is a weakness of this study. However, this is due to the extreme rarity of NP-C and the single-centre nature of this study. The between-group differences in age in ... See full document
5
Retinal thickness as potential biomarker in posterior cortical atrophy and typical Alzheimer’s disease
... patients were assessed by consultant neurologists with ex- pertise in cognitive neurology and fulfilled consensus cri- teria for PCA and NIA-AA criteria for tAD respectively [11, 14]. PCA patients fulfilled Mendez et al. ... See full document
69
Moderating effects of sex on the impact of diagnosis and amyloid positivity on verbal memory and hippocampal volume
... The present study shows that sex moderates the rela- tionship of A + and diagnosis with verbal learning per- formance and marginally moderates the effect of A + and diagnosis on verbal delayed recall and right hemisphere ... See full document
6
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