Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.
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Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disordersMolecular genetics and antisocial behavior: where do we stand?Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing dataThe genetics of dementia.Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic CounselorsIdentification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.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.Genetics, transcriptomics, and proteomics of Alzheimer's diseaseNf2/Merlin: a coordinator of receptor signalling and intercellular contactDistinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer diseaseForensic considerations in cases of neurofibromatosis--an overview.Trends in the molecular pathogenesis and clinical therapeutics of common neurodegenerative disordersA genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.Alzheimer's genetics in the GWAS era: a continuing story of 'replications and refutations'.Genetics of dementia: update and guidelines for the clinician.Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.A Novel AβPP M722K Mutation Affects Amyloid-β Secretion and Tau Phosphorylation and May Cause Early-Onset Familial Alzheimer's Disease in Chinese Individuals.Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.Cerebrospinal Fluid Anti-Amyloid-β Autoantibodies and Amyloid PET in Cerebral Amyloid Angiopathy-Related Inflammation.Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias.Increased phosphorylation of tau and synaptic protein loss in the aged transgenic mice expressing familiar Alzheimer's disease-linked presenilin 1 mutation.Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas.The Rationale Behind the New Alzheimer's Disease Conceptualization: Lessons Learned During the Last Decades.HLA-A*01 is associated with late onset of Alzheimer's disease in Italian patients.Amyloid precursor protein gene (APP) variation in late-onset Alzheimer's disease.
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P2860
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@en
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@nl
type
label
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@en
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@nl
prefLabel
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@en
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@nl
P2093
P1433
P1476
Frequency of mutations in the ...... et Alzheimer disease in Spain.
@en
P2093
Alberto Lleó
Jordi Peña-Casanova
Rafael Blesa
Rafael Oliva
Rosa Queralt
P304
P356
10.1001/ARCHNEUR.59.11.1759
P577
2002-11-01T00:00:00Z