Immunochemical identification of the serine protease inhibitor alpha 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease, Cell, vol.52, 1988. ,
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation, Journal of Neurology, Neurosurgery & Psychiatry, vol.78, issue.12, p.78, 2007. ,
DOI : 10.1136/jnnp.2007.123026
Privacy rules for DNA databanks. Protecting coded 'future diaries', JAMA: The Journal of the American Medical Association, vol.270, issue.19, 1993. ,
DOI : 10.1001/jama.270.19.2346
Measurement of locus copy number by hybridisation with amplifiable probes, Nucleic acids research 28, 2000. ,
DOI : 10.1093/nar/28.2.605
Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses, Nature Reviews Neuroscience, vol.55, issue.10, 2008. ,
DOI : 10.1097/00001756-199309000-00015
Neuropathological stageing of Alzheimer-related changes, Acta Neuropathologica, vol.80, issue.4, 1991. ,
DOI : 10.1007/BF00308809
Neurofibrillary Tangles and Alzheimer???s Disease, European Neurology, vol.40, issue.3, 1985. ,
DOI : 10.1159/000007969
Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene, Molecular Psychiatry, vol.388, issue.2, 2008. ,
DOI : 10.1016/j.biopsych.2005.11.028
Phenotype associated with APP duplication in five families, Brain, vol.129, issue.11, 2006. ,
DOI : 10.1093/brain/awl237
URL : https://hal.archives-ouvertes.fr/hal-00170801
Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum, The American Journal of Human Genetics, vol.65, issue.3, 1999. ,
DOI : 10.1086/302553
URL : http://doi.org/10.1086/302553
Maturation and pro-peptide cleavage of beta-secretase, The Journal of biological chemistry, vol.275, 2000. ,
Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, A??, and Alzheimer's Disease, PLoS ONE, vol.5, issue.1, p.8764, 2010. ,
DOI : 10.1371/journal.pone.0008764.s007
Replication of CLU, CR1, and PICALM Associations With Alzheimer Disease, Archives of Neurology, vol.67, issue.8, 2010. ,
DOI : 10.1001/archneurol.2010.147
Rapid detection of novel BRCA1 rearrangements in high-risk breastovarian cancer families using multiplex PCR of short fluorescent fragments, Human, vol.20, 2002. ,
Chemical differentiation along metaphase chromosomes. Experimental cell research 49, 1968. ,
DOI : 10.1016/0014-4827(68)90538-7
Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome, Neurobiology of aging, vol.25, 2004. ,
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments, Cancer, vol.60, 2000. ,
Neuregulin-1 and ErbB4 Immunoreactivity Is Associated with Neuritic Plaques in Alzheimer Disease Brain and in a Transgenic Model of Alzheimer Disease, Journal of Neuropathology & Experimental Neurology, vol.62, issue.1, 2003. ,
DOI : 10.1093/jnen/62.1.42
Uncovering the roles of rare variants in common disease through whole-genome sequencing, Nature Reviews Genetics, vol.39, issue.6, 2010. ,
DOI : 10.1038/nrg2779
Origins and functional impact of copy number variation in the human genome, Nature, vol.36, issue.7289, 2010. ,
DOI : 10.1038/nature08516
A copy number variation morbidity map of developmental delay, Nature Genetics, vol.455, issue.9, 2011. ,
DOI : 10.1038/nature05329
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals, Human Molecular Genetics, vol.19, issue.16, 2010. ,
DOI : 10.1093/hmg/ddq221
Frequency of hippocampal formation atrophy in normal aging and Alzheimer's disease, Neurobiology of Aging, vol.18, issue.1, 1997. ,
DOI : 10.1016/S0197-4580(96)00213-8
Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias, Journal of Neurology, Neurosurgery & Psychiatry, vol.82, issue.3, p.82, 2011. ,
DOI : 10.1136/jnnp.2010.207183
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein, Nature, vol.391, 1998. ,
The biochemical pathway of neurofibrillary degeneration in aging and Alzheimer's disease, Neurology, vol.52, issue.6, 1999. ,
DOI : 10.1212/WNL.52.6.1158
A role for synaptic zinc in activity-dependent Abeta oligomer formation and accumulation at excitatory synapses, The Journal of neuroscience : the official journal of the Society for Neuroscience, vol.29, 2009. ,
A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis, Science, vol.323, issue.5920, 2009. ,
DOI : 10.1126/science.1168979
Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS???ADRDA criteria, The Lancet Neurology, vol.6, issue.8, 2007. ,
DOI : 10.1016/S1474-4422(07)70178-3
Revising the definition of Alzheimer's disease: a new lexicon, The Lancet Neurology, vol.9, issue.11, 2010. ,
DOI : 10.1016/S1474-4422(10)70223-4
Pitfalls in the use of DGV for CNV interpretation, American Journal of Medical Genetics Part A, vol.122, issue.10, 2011. ,
DOI : 10.1002/ajmg.a.34195
Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism, Human Molecular Genetics, vol.7, issue.11, 1998. ,
DOI : 10.1093/hmg/7.11.1825
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques, Human Mutation, vol.27, issue.10, 2006. ,
DOI : 10.1002/humu.9458
Rating of the lesions in senile dementia of the Alzheimer type: concordance between laboratories A European multicenter study under the auspices of EURAGE, Journal of the Neurological Sciences, vol.97, issue.2-3, 1990. ,
DOI : 10.1016/0022-510X(90)90226-D
Protein expression in Down syndrome brain, Amino Acids, vol.21, issue.4, 2001. ,
DOI : 10.1007/s007260170001
Structural variation in the human genome, Nature Reviews Genetics, vol.37, issue.2, 2006. ,
DOI : 10.1038/nrg1767
Amyloid-beta aggregation, Neuro-degenerative diseases, vol.4, 2007. ,
aph-1 and pen-2 are required for Notch pathway signaling, gammasecretase cleavage of betaAPP, and presenilin protein accumulation, Developmental, vol.3, 2002. ,
Neuronal Zinc Exchange with the Blood Vessel Wall Promotes Cerebral Amyloid Angiopathy in an Animal Model of Alzheimer's Disease, Journal of Neuroscience, vol.24, issue.13, 2004. ,
DOI : 10.1523/JNEUROSCI.0297-04.2004
APOE and Alzheimer disease: a major gene with semi-dominant inheritance, Molecular Psychiatry, vol.67, issue.9, 2011. ,
DOI : 10.1056/NEJMoa0809578
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3162068
The genetic defect causing familial Alzheimer's disease maps on chromosome 21, Science, vol.235, issue.4791, p.235, 1987. ,
DOI : 10.1126/science.2880399
Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein, Biochemical and Biophysical Research Communications, vol.120, issue.3, 1984. ,
DOI : 10.1016/S0006-291X(84)80190-4
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease, Nature, vol.349, 1991. ,
APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos, Proceedings of the National Academy of Sciences of the United States of America 99, 2002. ,
DOI : 10.1073/pnas.022523499
Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation, Archives of General Psychiatry, vol.66, issue.9, 2009. ,
DOI : 10.1001/archgenpsychiatry.2009.80
URL : https://hal.archives-ouvertes.fr/inserm-00417413
INTRAFAMILIAL DIVERSITY OF PHENOTYPE ASSOCIATED WITH APP DUPLICATION, Neurology, vol.71, issue.23, 2008. ,
DOI : 10.1212/01.wnl.0000339400.64213.56
URL : https://hal.archives-ouvertes.fr/hal-00482227
The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics, Science, vol.297, issue.5580, p.297, 2002. ,
DOI : 10.1126/science.1072994
Alzheimer's disease: the amyloid cascade hypothesis, Science, vol.256, issue.5054, p.256, 1992. ,
DOI : 10.1126/science.1566067
The Alzheimer family of diseases: Many etiologies, one pathogenesis?, Proceedings of the National Academy of Sciences, vol.94, issue.6, 1997. ,
DOI : 10.1073/pnas.94.6.2095
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease, Nature genetics, p.41, 2009. ,
Genome-wide scan of copy number variation in late-onset Alzheimer's disease, Journal of Alzheimer's disease : JAD, vol.19, 2010. ,
How common are the "common" neurologic disorders?, Neurology, vol.68, issue.5, 2007. ,
DOI : 10.1212/01.wnl.0000252807.38124.a3
In vivo effects of ApoE and clusterin on amyloid-beta metabolism and neuropathology, Journal of molecular neuroscience : MN, vol.23, 2004. ,
Elevated levels of phosphorylated neurofilament proteins in cerebrospinal fluid of Alzheimer disease patients, Neuroscience Letters, vol.320, issue.3, 2002. ,
DOI : 10.1016/S0304-3940(02)00047-2
Role of Formyl Peptide Receptor???Like 1 (FPRL1/FPR2) in Mononuclear Phagocyte Responses in Alzheimer Disease, Immunologic Research, vol.31, issue.3, p.31, 2005. ,
DOI : 10.1385/IR:31:3:165
Population analysis of large copy number variants and hotspots of human genetic disease, American journal of human genetics, vol.84, 2009. ,
Antemortem MRI findings correlate with hippocampal neuropathology in typical aging and dementia, Neurology, vol.58, issue.5, 2002. ,
DOI : 10.1212/WNL.58.5.750
A case of human intersexuality having a possible XXY sex-determining mechanism, Nature, vol.183, 1959. ,
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus, Nature, vol.296, issue.7367, 2011. ,
DOI : 10.1038/nature10406
URL : https://hal.archives-ouvertes.fr/inserm-00619240
Testing the neurovascular hypothesis of Alzheimer's disease, p.1 ,
Jr The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease, Biochemistry, vol.32, 1993. ,
Traumatic brain injury as a risk factor for Alzheimer's disease, Journal of neurology, p.75, 2004. ,
Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes, Archives of Neurology, vol.67, issue.12, 2010. ,
DOI : 10.1001/archneurol.2010.201
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors, Science, vol.258, issue.5083, p.258, 1992. ,
DOI : 10.1126/science.1359641
MAGI1 Copy Number Variation in Bipolar Affective Disorder and Schizophrenia, Biological Psychiatry, vol.71, issue.10, 2012. ,
DOI : 10.1016/j.biopsych.2012.01.020
Variable phenotype of Alzheimer's disease with spastic paraparesis, Journal of neurochemistry, vol.104, 2008. ,
The Role of Apolipoprotein E in Alzheimer's Disease, Neuron, vol.63, issue.3, 2009. ,
DOI : 10.1016/j.neuron.2009.06.026
Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context, Proceedings of the National Academy of Sciences, vol.104, issue.51, 2007. ,
DOI : 10.1073/pnas.0710183104
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia???Absent Radius Syndrome, The American Journal of Human Genetics, vol.80, issue.2, 2007. ,
DOI : 10.1086/510919
Practice parameter: Diagnosis of dementia (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology, Neurology, vol.56, issue.9, 2001. ,
DOI : 10.1212/WNL.56.9.1143
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome, Journal of Medical Genetics, vol.45, issue.11, 2008. ,
DOI : 10.1136/jmg.2008.058701
Are cerebrovascular factors involved in Alzheimer's disease? Neurobiology of aging 21, 2000. ,
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40, Human mutation, p.27, 2006. ,
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease, Nature Genetics, vol.12, issue.10, p.41, 2009. ,
DOI : 10.1038/ng.439
Subcellular topography of neuronal Abeta peptide in APPxPS1 transgenic mice. The American journal of pathology 165, 2004. ,
Candidate gene for the chromosome 1 familial Alzheimer's disease locus, Science, vol.269, issue.5226, p.269, 1995. ,
DOI : 10.1126/science.7638622
Human aspartic protease memapsin 2 cleaves the beta -secretase site of beta -amyloid precursor protein, Proceedings of the National Academy of Sciences of the United States of America 97, 2000. ,
DOI : 10.1073/pnas.97.4.1456
Zyme, a Novel and Potentially Amyloidogenic Enzyme cDNA Isolated from Alzheimer's Disease Brain, Journal of Biological Chemistry, vol.272, issue.40, 1997. ,
DOI : 10.1074/jbc.272.40.25135
Proportionally more deleterious genetic variation in European than in African populations, Nature, vol.101, issue.7181, 2008. ,
DOI : 10.1038/nature06611
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923434
Reliability of NINCDS-ADRDA clinical criteria for the diagnosis of Alzheimer's disease, Neurology, vol.40, issue.10, 1990. ,
DOI : 10.1212/WNL.40.10.1517
PEN-2 and APH-1 Coordinately Regulate Proteolytic Processing of Presenilin 1, Journal of Biological Chemistry, vol.278, issue.10, 2003. ,
DOI : 10.1074/jbc.C200648200
Genome structural variation and sporadic disease traits, Nature Genetics, vol.38, issue.9, 2006. ,
DOI : 10.1126/science.1090278
Diagnosis of chromosomal abnormalities by array CGH in constitutional pathology: the end of the first-line karyotype], Arch Pediatr, vol.19, 2012. ,
Neprilysin regulates amyloid Beta peptide levels, Journal of molecular neuroscience : MN, vol.22, 2004. ,
DOI : 10.1385/jmn:22:1-2:5
Integrated detection and population-genetic analysis of SNPs and copy number variation, Nature Genetics, vol.40, issue.10, p.40, 2008. ,
DOI : 10.1126/science.1099870
Clinical diagnosis of Alzheimer " s disease: report of the NINCDS- ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease, Neurology, vol.34, 1984. ,
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series, Neurobiology of Aging, vol.33, issue.2, 2012. ,
DOI : 10.1016/j.neurobiolaging.2010.10.010
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies, The American Journal of Human Genetics, vol.86, issue.5 ,
DOI : 10.1016/j.ajhg.2010.04.006
The three new pathways leading to Alzheimer's disease, Neuropathology and Applied Neurobiology, vol.5, issue.4, 2011. ,
DOI : 10.1111/j.1365-2990.2011.01181.x
Reduction of beta-amyloid peptide42 in the cerebrospinal fluid of patients with Alzheimer's disease, Annals of neurology, vol.38, 1995. ,
Genetic Variation in an Individual Human Exome, PLoS Genetics, vol.445, issue.8, 2008. ,
DOI : 10.1371/journal.pgen.1000160.s013
Chromosome studies on normal and leukemic human leukocytes, Journal of the National Cancer Institute, vol.25, 1960. ,
Localization of a novel type trypsin-like serine protease, neurosin, in brain tissues of Alzheimer's disease and Parkinson's disease, Psychiatry and Clinical Neurosciences, vol.64, issue.4, 2000. ,
DOI : 10.1016/S0167-4838(97)00094-0
NEUROPATHOLOGY OF ALZHEIMER'S DISEASE AND RELATED DISORDERS, Neurologic Clinics, vol.18, issue.4, 2000. ,
DOI : 10.1016/S0733-8619(05)70229-2
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays, Nature, vol.20, 1998. ,
Frontal lobe white matter hyperintensities and neurofibrillary pathology in the oldest old, Neurology, vol.75, issue.23, 2010. ,
DOI : 10.1212/WNL.0b013e318200d6f9
Amyloid-protein precursor gene expression in alzheimer's disease and other conditions, Journal of Alzheimer's disease : JAD, vol.28, 2012. ,
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease, Molecular Psychiatry, vol.17, issue.9, 2012. ,
DOI : 10.1093/hmg/ddq390
URL : https://hal.archives-ouvertes.fr/hal-00965204
Integrated phylogeny of the primate brain, with special reference to humans and their diseases. Brain research, Brain research reviews, vol.15, 1990. ,
Global variation in copy number in the human genome, Nature, vol.38, issue.7118, 2006. ,
DOI : 10.1126/science.1117196
Meta-analysis of the Association Between Variants in SORL1 and Alzheimer Disease, Archives of Neurology, vol.68, issue.1, 2011. ,
DOI : 10.1001/archneurol.2010.346
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer " s disease type 3 gene, Nature, vol.376, 1995. ,
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease, Nature Genetics, vol.279, issue.2, 2007. ,
DOI : 10.1038/ng1943
Genetic complexity of Alzheimer's disease: successes and challenges, Journal of Alzheimer's disease, issue.9, 2006. ,
Peripheral clearance of amyloid beta peptide by complement C3- dependent adherence to erythrocytes, Neurobiology of aging, vol.27, 2006. ,
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease, European Journal of Human Genetics, vol.172, issue.6, 2012. ,
DOI : 10.1038/nrg2779
URL : https://hal.archives-ouvertes.fr/hal-00965208
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nature Genetics, vol.302, issue.1, 2006. ,
DOI : 10.1038/ng1718
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease, Neurobiology of Disease, vol.31, issue.1, p.31, 2008. ,
DOI : 10.1016/j.nbd.2008.03.004
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17, Human, vol.30, 2009. ,
Amyloid-beta oligomers set fire to inflammasomes and induce Alzheimer's pathology, Journal of cellular and molecular medicine, vol.12, 2008. ,
DOI : 10.1111/j.1582-4934.2008.00496.x
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514104
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method, Journal of Medical Genetics, vol.38, issue.4, 2001. ,
DOI : 10.1136/jmg.38.4.240
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14, Science, vol.258, issue.5082, p.258, 1992. ,
DOI : 10.1126/science.1411576
Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease., Proceedings of the National Academy of Sciences of the United States of America 90, 1993. ,
DOI : 10.1073/pnas.90.20.9649
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, Nucleic Acids Research, vol.30, issue.12, 2002. ,
DOI : 10.1093/nar/gnf056
Large-Scale Copy Number Polymorphism in the Human Genome, Science, vol.305, issue.5683, p.305, 2004. ,
DOI : 10.1126/science.1098918
Amyloid beta-protein precursor: new clues to the genesis of Alzheimer's disease, Current opinion in neurobiology, vol.4, 1994. ,
Nicastrin functions as a gamma-secretase-substrate receptor, Cell, vol.122, 2005. ,
DOI : 10.1016/j.cell.2005.05.022
URL : http://doi.org/10.1016/j.cell.2005.05.022
Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway, The Journal of neuroscience : the official journal of the Society for Neuroscience, vol.27, 2007. ,
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures, Nature Genetics, vol.143, issue.3, 2008. ,
DOI : 10.1006/meth.2001.1262
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant, Human Molecular Genetics, vol.5, issue.7, 1996. ,
DOI : 10.1093/hmg/5.7.985
Cloning of a gene bearing missense mutations in early-onset familial
Alzheimer's disease, Nature, vol.375, issue.6534, 1995. ,
DOI : 10.1038/375754a0
PEN-2 enhances gamma-cleavage after presenilin heterodimer formation, Journal of Neurochemistry, vol.90, issue.6, 2004. ,
DOI : 10.1111/j.1471-4159.2004.02597.x
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy, Brain, vol.129, issue.11, 2006. ,
DOI : 10.1093/brain/awl203
A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques, The Journal of biological chemistry, vol.276, 2001. ,
Diversity of Human Copy Number Variation and Multicopy Genes, Science, vol.330, issue.6004, 2010. ,
DOI : 10.1126/science.1197005
Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study, International Journal of Alzheimer's Disease, vol.176, issue.7, p.729478, 2011. ,
DOI : 10.1093/nar/gkq040
Alzheimer's disease with spastic paresis and cotton wool type plaques, Journal of Neuroscience Research, vol.54, issue.3, 2002. ,
DOI : 10.1002/jnr.10392
Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus, Science, vol.235, issue.4791, p.235, 1987. ,
DOI : 10.1126/science.2949367
Soluble amyloid precursor protein alpha reduces neuronal injury and improves functional outcome following diffuse traumatic brain injury in rats, Brain, vol.1094, 2006. ,
Amyloid-beta induces chemotaxis and oxidant stress by acting at formylpeptide receptor 2, a G protein-coupled receptor expressed in phagocytes and brain, The Journal of biological chemistry, vol.276, 2001. ,
Structure and function of gamma-secretase. Seminars in cell developmental biology 20, 2009. ,
Molecular cloning of cDNA encoding an unrecognized component of amyloid in Alzheimer disease., Proceedings of the National Academy of Sciences of the United States of America 90, 1993. ,
DOI : 10.1073/pnas.90.23.11282
A comparative study of histological and immunohistochemical methods for neurofibrillary tangles and senile plaques in Alzheimer's disease, Acta Neuropathologica, vol.12, issue.2, 1992. ,
DOI : 10.1007/BF00308476
Detection of tau proteins in normal and Alzheimer's disease cerebrospinal fluid with a sensitive sandwich enzyme-linked immunosorbent assay, Journal of neurochemistry, p.61, 1993. ,
Beta-Secretase Cleavage of Alzheimer's Amyloid Precursor Protein by the Transmembrane Aspartic Protease BACE, Science, vol.286, issue.5440, p.286, 1999. ,
DOI : 10.1126/science.286.5440.735
Increased expression of Abeta degrading enzyme IDE in the cortex of transgenic mice with Alzheimer's disease-like neuropathology, Neuroscience letters, p.438, 2008. ,
Insulin-degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population, Journal of Medical Genetics, vol.44, issue.9, 2007. ,
DOI : 10.1136/jmg.2006.048470
Amyloidogenic processing of beta-amyloid precursor protein in intracellular compartments, Neurology, vol.66, 2006. ,
Medial temporal lobe atrophy and APOE genotype do not predict cognitive improvement upon treatment with rivastigmine in Alzheimer's disease patients. Dementia and geriatric cognitive disorders 19, 2005. ,
The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers, Journal of Alzheimer's disease, p.JAD, 2012. ,
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2, Nature, vol.30, issue.7281, 2010. ,
DOI : 10.1038/nature08727
Alzheimer disease: Evidence for selective loss of cholinergic neurons in the nucleus basalis, Annals of Neurology, vol.1, issue.2, 1981. ,
DOI : 10.1002/ana.410100203
When loss is gain: reduced presenilin proteolytic function leads to increased A??42/A??40. Talking Point on the role of presenilin mutations in Alzheimer disease, EMBO reports, vol.2, issue.2, 2007. ,
DOI : 10.1038/sj.embor.7400896
Role of the MEOX2 homeobox gene in neurovascular dysfunction in Alzheimer disease, Nature Medicine, vol.104, 2005. ,
DOI : 10.1016/S0165-0270(03)00206-1
Membrane-anchored aspartyl protease with Alzheimer's disease betasecretase activity, Nature, vol.402, 1999. ,
Humanin, a newly identified neuroprotective factor, uses the G proteincoupled formylpeptide receptor-like-1 as a functional receptor, Journal of immunology, vol.172, 2004. ,
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing, Nature, vol.407, 2000. ,
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment, Experimental Neurology, vol.200, issue.1, 2006. ,
DOI : 10.1016/j.expneurol.2006.01.022
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients, Human Mutation, vol.47, issue.1, 2008. ,
DOI : 10.1002/humu.20613
Copy Number Variation in Human Health, Disease, and Evolution, Annual Review of Genomics and Human Genetics, vol.10, issue.1, 2009. ,
DOI : 10.1146/annurev.genom.9.081307.164217