Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
暂无分享,去创建一个
B. Dubois | D. Campion | D. Hannequin | V. Mesnage | A. Brice | M. Martinez | F. Clerget-Darpoux | T. Frebourg | A. Michon | M. Puel | S. Belliard | C. Thomas-Antérion | A. Camuzat | Cosette Martin | G. Raux | C. Dumanchin | C. Martin | F. Charbonnier | C. Penet | B. Dubois | M. Martinez | Maria Martinez | M. Martinez | Valérie Mesnage | M. Martinez
[1] Y. Agid,et al. Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives. , 1995, American journal of medical genetics.
[2] A. Goate,et al. Exploring the etiology of Alzheimer disease using molecular genetics. , 1997, JAMA.
[3] Nick C Fox,et al. Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation , 1996, The Lancet.
[4] P. S. St George-Hyslop,et al. A presenilin‐1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI , 1997, Neurology.
[5] J. Rommens,et al. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. , 1996, Human molecular genetics.
[6] Miguel Ángel Martínez,et al. No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group. , 1996, Journal of medical genetics.
[7] J. Haines,et al. Apolipoprotein E genotype in patients with alzheimer's disease: Implications for the risk of dementia among relatives , 1995, Annals of neurology.
[8] M McNamara,et al. A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. , 1997, Annals of neurology.
[9] V. Lehtinen,et al. Prevalence of severe dementia in Finland , 1985, Neurology.
[10] J. Rinne,et al. The Glu318Gly mutation of the presenilin‐1 gene does not necessarily cause Alzheimer's disease , 1998, Annals of neurology.
[11] M. Adams,et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene , 1995, Neuroreport.
[12] Nick C Fox,et al. Chromosome 14 familial Alzheimer’s disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene , 1998, Journal of neurology, neurosurgery, and psychiatry.
[13] A. Myers,et al. E280A PS‐1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles , 1997, Human mutation.
[14] Miguel Ángel Martínez,et al. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. , 1998, Journal of medical genetics.
[15] A. Patel,et al. Presenilins and early-onset familial Alzheimer's disease. , 1997, Neuroreport.
[16] A Hofman,et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. , 1998, Human molecular genetics.
[17] M. Cruts,et al. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. , 1995, Human molecular genetics.
[18] A. Hofman,et al. The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. , 1999, American journal of human genetics.
[19] B. Dubois,et al. Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. , 1995, Human molecular genetics.
[20] Y. Agid,et al. A large pedigree with early-onset Alzheimer's disease , 1995, Neurology.
[21] A. Paetau,et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 , 1998, Nature Medicine.
[22] Nick C Fox,et al. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. , 1997, Brain : a journal of neurology.
[23] Y. Ikejiri,et al. A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy , 1997, Neuroscience Letters.
[24] M. Bullido,et al. Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease , 1998, Neuroscience Letters.
[25] K P Offord,et al. Prevalence of medically diagnosed dementia in a defined United States population , 1989, Neurology.
[26] D. Campion,et al. Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease , 1999 .
[27] Lars Lannfelt,et al. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease , 1997, Neuroscience Letters.
[28] D. Campion,et al. Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[29] L. Thal,et al. Early‐onset Alzheimer's disease with a presenilin‐1 mutation at the site corresponding to the volga German presenilin‐2 mutation , 1997, Annals of neurology.
[30] G. Schellenberg,et al. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene , 1998, Human mutation.
[31] D. T. Vernier,et al. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. , 1990, Journal of lipid research.
[32] J. Growdon,et al. A novel presenilin‐1 mutation: Increased β‐amyloid and neurofibrillary changes , 1997 .
[33] L. Lannfelt,et al. Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene. , 1998, Archives of Neurology.
[34] Hans Förstl,et al. Missense mutations of the PS‐1/S182 gene in german early‐onset Alzheimer's disease patients , 1996, Annals of neurology.
[35] J. Hardy,et al. Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile. , 1992, Human molecular genetics.
[36] B. Dubois,et al. Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups. , 1995, American journal of medical genetics.
[37] J. Buxbaum,et al. A novel Polish presenilin‐1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years , 1998, NeuroReport.
[38] Y. Agid,et al. Apolipoprotein E ϵ4 Allele and Familial Aggregation of Alzheimer Disease , 1998 .
[39] J. Hardy,et al. Two novel (M233T and ρ278T) presenilin‐1 mutations in early‐onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin‐1 mutations with a novel phenotype , 1997, Neuroreport.
[40] N. Cairns,et al. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. , 1998, American journal of human genetics.
[41] B. Schoenberg,et al. Severe dementia. Prevalence and clinical features in a biracial US population. , 1985, Archives of neurology.
[42] Rudolph E Tanzi,et al. Presenilins and Alzheimer's disease , 1997, Current Opinion in Neurobiology.
[43] A. Hofman,et al. Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease , 1994, Nature Genetics.