Peter Henry St. George-hyslop
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(Suggest an Edit or Addition)Peter Henry St. George-hyslop's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease (1993) (2765)
- TREM2 variants in Alzheimer's disease. (2013) (2173)
- Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
- Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. (1987) (1493)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- The genetic defect causing familial Alzheimer's disease maps on chromosome 21. (1987) (1180)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function (2015) (620)
- Prediction of probable Alzheimer's disease in memory-impaired patients (1996) (589)
- A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease. (2000) (576)
- Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. (2008) (522)
- FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions (2018) (521)
- α-Synuclein Membrane Interactions and Lipid Specificity* (2000) (509)
- Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. (1998) (497)
- Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. (1998) (437)
- Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
- Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits. (2011) (401)
- Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype (2001) (387)
- Wild-type PINK1 Prevents Basal and Induced Neuronal Apoptosis, a Protective Effect Abrogated by Parkinson Disease-related Mutations* (2005) (347)
- Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (1996) (299)
- Phosphorylation, Subcellular Localization, and Membrane Orientation of the Alzheimer's Disease-associated Presenilins* (1997) (296)
- Microbleed topography, leukoaraiosis, and cognition in probable Alzheimer disease from the Sunnybrook dementia study. (2008) (258)
- SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis (2012) (252)
- A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
- Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. (1987) (243)
- Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation (2003) (237)
- RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether (2019) (236)
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis (2010) (235)
- gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in? (2002) (232)
- alpha-Synuclein membrane interactions and lipid specificity. (2000) (211)
- Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (2004) (209)
- The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. (1997) (203)
- Screening for PS1 mutations in a referral-based series of AD cases (2001) (203)
- Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies (2014) (185)
- C-terminal calcium binding of α-synuclein modulates synaptic vesicle interaction (2018) (184)
- Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. (2006) (180)
- Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. (1992) (175)
- Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. (2011) (173)
- Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis. (2002) (171)
- Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. (1999) (169)
- APH-1 Interacts with Mature and Immature Forms of Presenilins and Nicastrin and May Play a Role in Maturation of Presenilin·Nicastrin Complexes* (2003) (165)
- SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (161)
- Mature Glycosylation and Trafficking of Nicastrin Modulate Its Binding to Presenilins* 210 (2002) (160)
- Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. (1998) (160)
- Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (2011) (159)
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. (2001) (159)
- The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. (2007) (156)
- The in Vivo Brain Interactome of the Amyloid Precursor Protein*S (2008) (155)
- Coding mutations in SORL1 and Alzheimer disease (2015) (151)
- TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. (2006) (150)
- The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra? (2003) (149)
- Immunotherapy for Alzheimer's disease (2004) (141)
- Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions (2000) (141)
- Extracellular Monomeric Tau Protein Is Sufficient to Initiate the Spread of Tau Protein Pathology* (2013) (141)
- Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
- Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease. (1987) (139)
- Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. (1997) (137)
- LRRK2 gene in Parkinson disease (2005) (135)
- Alzheimer's disease and possible gene interaction. (1994) (134)
- The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis. (1995) (133)
- Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the β‐amyloid precursor protein gene (1992) (133)
- Presenilin-Dependent γ-Secretase-Mediated Control of p53-Associated Cell Death in Alzheimer's Disease (2006) (130)
- Analysis of the glucocerebrosidase gene in Parkinson's disease (2005) (125)
- Rare coding mutations identified by sequencing of Alzheimer disease genome‐wide association studies loci (2015) (124)
- Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. (2003) (122)
- Increased Production of β-Amyloid and Vulnerability to Endoplasmic Reticulum Stress by an Aberrant Spliced Form of Presenilin 2* (2001) (117)
- Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice. (2005) (117)
- Familial and sporadic Alzheimer's disease (1996) (117)
- Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia (1998) (116)
- A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease (1990) (115)
- ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism (2011) (113)
- Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. (2007) (111)
- Presenilin structure, function and role in Alzheimer disease. (2000) (110)
- Dopa‐responsive parkinsonism phenotype of Machado‐Joseph disease: Confirmation of 14q CAG expansion (1995) (108)
- Investigation of c9orf72 in 4 neurodegenerative disorders. (2012) (106)
- A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. (2001) (104)
- TREM2 shedding by cleavage at the H157‐S158 bond is accelerated for the Alzheimer's disease‐associated H157Y variant (2017) (103)
- Alzheimer's disease (1996) (102)
- Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. (1996) (101)
- Transmission and age‐at‐onset patterns in familial Alzheimer's disease (1990) (100)
- Association between angiotensin-converting enzyme and Alzheimer disease. (2000) (99)
- Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture (2021) (99)
- Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation (2000) (98)
- Mutation analysis of CHCHD10 in different neurodegenerative diseases. (2015) (98)
- Familial Alzheimer disease: Decreases in CSF Aβ42 levels precede cognitive decline (2005) (98)
- Association between SORL1 and Alzheimer's disease in a genome-wide study (2007) (96)
- Pyroglutamate-3 amyloid-β deposition in the brains of humans, non-human primates, canines, and Alzheimer disease-like transgenic mouse models. (2013) (95)
- Presenilin 1 Mutations Activate γ42-Secretase but Reciprocally Inhibit ε-Secretase Cleavage of Amyloid Precursor Protein (APP) and S3-Cleavage of Notch* (2002) (94)
- Therapeutic effects of remediating autophagy failure in a mouse model of Alzheimer disease by enhancing lysosomal proteolysis (2011) (94)
- ATP-binding Cassette Transporter A7 (ABCA7) Loss of Function Alters Alzheimer Amyloid Processing* (2015) (89)
- Rare Individual Amyloid-β Oligomers Act on Astrocytes to Initiate Neuronal Damage (2014) (89)
- The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease (2010) (87)
- Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. (2005) (87)
- Hereditary spastic paraplegia: clinical genetic study of 15 families. (2004) (87)
- Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. (1999) (86)
- Conversion to Dementia among Two Groups with Cognitive Impairment (2004) (86)
- Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein. (2002) (85)
- A cross-ethnic analysis of risk factors for AD in white Hispanics and white non-Hispanics (1999) (84)
- Single Molecule Characterization of the Interactions between Amyloid-β Peptides and the Membranes of Hippocampal Cells (2013) (83)
- Molecular genetics of Alzheimer's disease: the role of β-amyloid and the presenilins (2000) (83)
- The Presenilin Proteins Are Components of Multiple Membrane-bound Complexes That Have Different Biological Activities* (2004) (81)
- Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles (2003) (81)
- Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk (2012) (81)
- Homozygous inheritance of the Machado‐Joseph disease gene (1994) (81)
- Group II Metabotropic Glutamate Receptor Stimulation Triggers Production and Release of Alzheimer's Amyloid β42 from Isolated Intact Nerve Terminals (2010) (80)
- Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD (2006) (79)
- Heterogeneity within a large kindred with frontotemporal dementia (2007) (78)
- Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus) (1996) (76)
- Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease. (2006) (74)
- Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases (2016) (74)
- In vivo reduction of amyloid-beta by a mutant copper transporter. (2003) (74)
- Carboxyl-terminal Fragments of Alzheimer β-Amyloid Precursor Protein Accumulate in Restricted and Unpredicted Intracellular Compartments in Presenilin 1-deficient Cells* (2000) (74)
- Vps10 Family Proteins and the Retromer Complex in Aging-Related Neurodegeneration and Diabetes (2012) (73)
- Age-related changes in D2 receptor binding with iodine-123-iodobenzofuran SPECT. (1998) (72)
- Intracellular oligomeric amyloid-beta rapidly regulates GluA1 subunit of AMPA receptor in the hippocampus (2015) (72)
- ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease (2015) (72)
- Benign hereditary chorea: Clinical, genetic, and pathological findings (2003) (71)
- Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. (2014) (71)
- Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix. (1999) (70)
- Molecular biology and genetics of Alzheimer's disease. (2005) (70)
- Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. (1995) (68)
- Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation. (2006) (68)
- Drug Repositioning for Alzheimer’s Disease Based on Systematic ‘omics’ Data Mining (2016) (68)
- Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease. (2008) (66)
- Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology. (2002) (66)
- Loss of γ-Secretase Function Impairs Endocytosis of Lipoprotein Particles and Membrane Cholesterol Homeostasis (2008) (64)
- Genetic Factors in the Genesis of Alzheimer's Disease (2000) (62)
- SOD1 missense mutation in an Italian family with ALS (1994) (62)
- Structural Interactions between Inhibitor and Substrate Docking Sites Give Insight into Mechanisms of Human PS1 Complexes (2014) (61)
- Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. (1996) (60)
- Familial Alzheimer's disease: Site of mutation influences clinical phenotype (2000) (60)
- Current and future implications of basic and translational research on amyloid-β peptide production and removal pathways (2015) (59)
- δ-Catenin Is Genetically and Biologically Associated with Cortical Cataract and Future Alzheimer-Related Structural and Functional Brain Changes (2012) (58)
- Cytosolic Proteins Regulate α-Synuclein Dissociation from Presynaptic Membranes* (2006) (57)
- Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
- A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. (1998) (55)
- Expression of human FALS SOD in motorneurons of Drosophila. (1999) (54)
- Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? (1994) (54)
- Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics (2012) (54)
- The upstream promoter of the beta-amyloid precursor protein gene (APP) shows differential patterns of methylation in human brain. (1994) (53)
- p53-Dependent Transcriptional Control of Cellular Prion by Presenilins (2009) (52)
- Genetic Variability in CHMP2B and Frontotemporal Dementia (2006) (52)
- Apolipoprotein-E (APO-E) genotype and symptoms of psychosis in Alzheimer's disease. (1999) (52)
- Biomolecular condensates undergo a generic shear-mediated liquid-to-solid transition (2020) (51)
- SORL1 mutations in early- and late-onset Alzheimer disease (2016) (51)
- Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene (1995) (51)
- Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. (1998) (50)
- TET2 Regulates the Neuroinflammatory Response in Microglia. (2019) (48)
- Splicing mutation of presenilin‐1 gene for early‐onset familial Alzheimer's disease (1998) (48)
- The physiological and pathological biophysics of phase separation and gelation of RNA binding proteins in amyotrophic lateral sclerosis and fronto-temporal lobar degeneration (2018) (48)
- F-box/LRR-repeat protein 7 is genetically associated with Alzheimer’s disease (2015) (47)
- The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. (2002) (47)
- Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease. (1992) (45)
- Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease (2001) (45)
- Inhibiting Amyloid Precursor Protein C-terminal Cleavage Promotes an Interaction with Presenilin 1* (2000) (43)
- Piecing together Alzheimer's. (2000) (43)
- Neprilysin activity and expression are controlled by nicastrin (2006) (42)
- Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases. (2005) (41)
- A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts (2004) (41)
- The levels of mature glycosylated nicastrin are regulated and correlate with γ‐secretase processing of amyloid β‐precursor protein (2002) (40)
- Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients (2006) (39)
- Association between bleomycin hydrolase and Alzheimer's disease in caucasians (1998) (39)
- Single-Molecule Imaging Reveals that Small Amyloid-β1–42 Oligomers Interact with the Cellular Prion Protein (PrPC) (2014) (39)
- Anatomic, metabolic, neuropsychological, and molecular genetic studies of three pairs of identical twins discordant for dementia of the Alzheimer's type. (1991) (39)
- Rarity of the Alzheimer disease-protective APP A673T variant in the United States. (2015) (39)
- Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. (2000) (38)
- Structural biology of presenilin 1 complexes (2014) (38)
- An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. (1999) (38)
- Assembly of the presenilin γ‐/ε‐secretase complex (2012) (37)
- Gerstmann-Sträussler-Scheinker Disease (PRNP P102L): Amyloid Deposits Are Best Recognized by Antibodies Directed to Epitopes in PrP Region 90-165 (1995) (37)
- Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. (2000) (37)
- Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease. (2006) (37)
- Random Mutagenesis of Presenilin-1 Identifies Novel Mutants Exclusively Generating Long Amyloid β-Peptides* (2005) (37)
- Integrative approach to sporadic Alzheimer’s disease: deficiency of TYROBP in a tauopathy mouse model reduces C1q and normalizes clinical phenotype while increasing spread and state of phosphorylation of tau (2018) (37)
- Biology of presenilins as causative molecules for Alzheimer disease (1999) (37)
- APH1 Polar Transmembrane Residues Regulate the Assembly and Activity of Presenilin Complexes* (2009) (37)
- Early fear memory defects are associated with altered synaptic plasticity and molecular architecture in the TgCRND8 Alzheimer's disease mouse model (2014) (36)
- Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes (1993) (36)
- Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. (2013) (36)
- Proteolytic processing of presenilin‐1 (PS‐1) is not associated with Alzheimer's disease with or without PS‐1 mutations (1997) (36)
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing (2018) (36)
- Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity (2001) (36)
- The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53. (2007) (36)
- Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. (2015) (34)
- Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. (2002) (34)
- Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. (1994) (33)
- Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer’s Disease in Chinese Patients (2006) (32)
- Clinical and genetic study of a large SPG4 Italian family (2005) (31)
- Clinical and genetic study of a large Italian family linked to SPG12 locus (2002) (30)
- Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. (1994) (30)
- A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers (2018) (30)
- Report of the second international workshop on human chromosome 14 mapping 1994. (1995) (30)
- IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. (2008) (29)
- Abeta-42 deposition precedes other changes in PS-1 Alzheimer's disease. (1998) (29)
- The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration (2016) (28)
- Developmental Expression of Wild-Type and Mutant Presenilin-1 in Hippocampal Neurons from Transgenic Mice: Evidence for Novel Species-Specific Properties of Human Presenilin-1 (1999) (28)
- New locus for hereditary spastic paraplegia maps to chromosome 1p31.1‐1p21.1 (2005) (28)
- Long-Term Statin Therapy and CSF Cholesterol Levels: Implications for Alzheimer’s Disease (2009) (27)
- A novel presenilin 2 mutation (V393M) in early‐onset dementia with profound language impairment (2008) (27)
- Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease (2008) (27)
- Presenilin function: connections to Alzheimer's disease and signal transduction. (2001) (27)
- Choice of biological source material supersedes oxidative stress in its influence on DJ-1 in vivo interactions with Hsp90. (2011) (27)
- A presenilin‐1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI (1997) (26)
- Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer’s disease (2008) (26)
- Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. (2005) (26)
- Familial Dementia With Frontotemporal Features Associated With M146V Presenilin‐1 Mutation (2013) (26)
- The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein. (2002) (26)
- Heritability and genetic variance of dementia with Lewy bodies (2018) (25)
- TMP21 Transmembrane Domain Regulates γ-Secretase Cleavage* (2009) (25)
- PS1 Alzheimer’s disease family with spastic paraplegia (2003) (25)
- Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (25)
- Polymorphic microsatellites and Wilson disease (WD). (1993) (24)
- A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. (1998) (24)
- Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus) (2006) (23)
- Wild-type sTREM2 blocks Aβ aggregation and neurotoxicity, but the Alzheimer's R47H mutant increases Aβ aggregation (2021) (22)
- Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). (2011) (22)
- Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP. (2002) (21)
- Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia (2006) (21)
- Inbreeding among Caribbean Hispanics from the Dominican Republic and the Effects on the Risk of Alzheimer's Disease (2014) (21)
- Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease. (1997) (21)
- Childhood onset in familial prion disease with a novel mutation in the PRNP gene. (2006) (20)
- Analysis of the c‐FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease (1993) (20)
- T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. (2006) (20)
- Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype (2002) (19)
- p53‐Dependent control of cell death by nicastrin: lack of requirement for presenilin‐dependent γ‐secretase complex (2009) (19)
- TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin. (2008) (19)
- A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. (1998) (19)
- Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins. (2006) (18)
- Reactive or transgenic increase in microglial TYROBP reveals a TREM2‐independent TYROBP–APOE link in wild‐type and Alzheimer's‐related mice (2020) (18)
- Differential display analysis of presenilin 1-deficient mouse brains. (2002) (17)
- Presenilin‐directed inhibitors of γ‐secretase trigger caspase 3 activation in presenilin‐expressing and presenilin‐deficient cells (2004) (17)
- Apolipoprotein E polymorphism and age of onset for Alzheimer's disease in a bi-ethnic sample (2004) (17)
- Presenilin-1 holoprotein is an interacting partner of sarco endoplasmic reticulum calcium-ATPase and confers resistance to endoplasmic reticulum stress. (2010) (16)
- A comprehensive screening of copy number variability in dementia with Lewy bodies (2019) (16)
- Identification and Structural Characterisation of Carboxy-Terminal Polypeptides and Antibody Epitopes of Alzheimer's Amyloid Precursor Protein Using High-Resolution Mass Spectrometry (2005) (16)
- Targeting the amyloid-β antibody in the brain tissue of a mouse model of Alzheimer's disease. (2012) (15)
- An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene. (1992) (15)
- Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects. (2007) (14)
- Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes (2000) (14)
- Deciphering microglial diversity in Alzheimer's disease (2017) (14)
- Longitudinal evaluation of Tau‐P301L transgenic mice reveals no cognitive impairments at 17 months of age (2017) (12)
- Evidence that the β-catenin Nuclear Translocation Assay Allows for Measuring Presenilin 1 Dysfunction (2000) (12)
- Pulmonary malakoplakia. (1984) (12)
- The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism. (1992) (12)
- Structural and Chemical Biology of Presenilin Complexes. (2017) (12)
- Wild-type and mutated nicastrins do not display aminopeptidase M- and B-like activities. (2001) (12)
- Novel PS1 Mutation in a Bavarian Kindred With Familial Alzheimer Disease (2004) (11)
- Interactome Analyses of Mature γ-Secretase Complexes Reveal Distinct Molecular Environments of Presenilin (PS) Paralogs and Preferential Binding of Signal Peptide Peptidase to PS2* (2013) (11)
- Two homologous genes causing early-onset familial Alzheimer's disease. (1996) (11)
- Molecular genetics of Alzheimer's disease. (2000) (11)
- A Novel PS1 Gene Mutation in a Large Aboriginal Kindred (2010) (11)
- Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs. (1992) (10)
- Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway. (2021) (9)
- A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene. (1993) (9)
- Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians (2013) (9)
- JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway. (2005) (9)
- Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains. (1999) (8)
- Role of genetics in tests of genotype, status, and disease progression in early-onset Alzheimer's disease. (1998) (8)
- Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease (2017) (8)
- Genetic markers in the diagnosis of Alzheimer's disease. (2001) (8)
- Does Soluble TREM2 Protect Against Alzheimer's Disease? (2022) (7)
- Potential roles for presenilin-1 in oxygen sensing and in glial-specific gene expression (2004) (7)
- Differential interaction with TREM2 modulates microglial uptake of modified Aβ species (2021) (7)
- Characterization of the Kindred of Alois Alzheimer's Patient With Plaque-only Dementia (2006) (7)
- Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells. (2007) (7)
- Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4 (2010) (7)
- Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins. (2019) (7)
- The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus. (2008) (6)
- Alzheimer Amyloid Precursor Aspartyl Proteinase Activity in CHAPSO Homogenates of Spodoptera frugiperda Cells (2004) (6)
- Genetic determinants of Alzheimer disease. (1995) (6)
- Brain traffic: subcellular transport of the amyloid precursor protein. (2009) (6)
- Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease. (1998) (6)
- Dopa‐responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin? (2003) (5)
- Search for the familial Alzheimer's disease gene. (1987) (5)
- Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets (1993) (5)
- Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells. (2002) (4)
- Fc&ggr; Receptor Polymorphisms Do Not Predict Response to Intravenous Immunoglobulin in Myasthenia Gravis (2012) (4)
- Molecular genetics of familial Alzheimer's disease. (1989) (4)
- Neuropathological, biochemical and genetic alterations in AD. (2000) (4)
- Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation. (2000) (3)
- Molecular genetics of Alzheimer disease. (1999) (3)
- Oral Immunization with Soybean Storage Protein Containing Amyloid-β 4–10 Prevents Spatial Learning Decline (2019) (2)
- Assessment of Genetic Polymorphisms in DNA from Formalin Fixed Neurological Tissues (1994) (2)
- Study on the Putative Contribution of Caspases and the Proteasome to the Degradation of Aph-1a and Pen-2 (2007) (2)
- Alzheimer's disease. (2000) (1)
- Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk (2012) (1)
- [Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region]. (1994) (1)
- Generation of amyloid beta protein from a presenilin-1 and betaAPP complex. (2002) (1)
- Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies (2022) (0)
- The Nairobi Declaration—Reducing the burden of dementia in low‐ and middle‐income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs (2023) (0)
- Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease (2011) (0)
- Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies (2020) (0)
- Wild-type sTREM2 blocks Aβ aggregation and neurotoxicity, while the Alzheimer’s R47H mutant does the opposite (2020) (0)
- Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
- MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER'S DISEASE (1988) (0)
- MicroRNA-128 suppresses tau phosphorylation and reduces amyloid-beta accumulation by inhibiting the expression of GSK3β, APPBP2, and mTOR in Alzheimer's disease. (2023) (0)
- Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease (2018) (0)
- Withdrawal: Cytosolic proteins regulate α-synuclein dissociation from presynaptic membranes. (2020) (0)
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