Published in Neurology on February 17, 2010
Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration. Int J Clin Exp Med (2010) 0.91
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy. Neurobiol Aging (2012) 0.90
Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy. J Clin Endocrinol Metab (2011) 0.84
Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease. Neurosci Lett (2014) 0.80
Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. Brain Pathol (2013) 0.78
An Alzheimer disease presenilin mutation, syndrome diversity, and a shrinking world. Neurology (2010) 0.77
Alzheimer's disease: ageing-related or age-related? New hypotheses from an old debate. Neurol Sci (2011) 0.77
Angela R.: a familial Alzheimer's disease case in the days of Auguste D. J Neurol (2016) 0.75
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics (2003) 53.11
Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Ann Neurol (2004) 21.56
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res (1990) 14.82
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Frequency of stages of Alzheimer-related lesions in different age categories. Neurobiol Aging (1997) 7.54
Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry (1994) 5.40
Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron (1992) 4.22
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet (1999) 4.17
Allosteric effects of DNA on transcriptional regulators. Nature (1998) 3.94
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet (1999) 3.14
The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery. Eur Neurol (1996) 2.97
Apathy and the functional anatomy of the prefrontal cortex-basal ganglia circuits. Cereb Cortex (2005) 2.80
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet (1998) 2.26
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol (2004) 2.09
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA (2001) 1.82
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet (1995) 1.75
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology (2001) 1.64
Mutations in progranulin explain atypical phenotypes with variants in MAPT. Brain (2006) 1.43
Frontotemporal lobar degeneration: current concepts in the light of recent advances. Brain Pathol (2007) 1.38
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics (2006) 1.31
Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease. Lancet (1995) 1.28
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. Neurology (2000) 1.20
Novel mutations and repeated findings of mutations in familial Alzheimer disease. Neurogenetics (2005) 1.07
FAMILIAL ALZHEIMER'S DISEASE. Neurology (1963) 1.07
Familial frontotemporal dementia associated with a novel presenilin-1 mutation. Dement Geriatr Cogn Disord (2002) 1.04
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia. Neurobiol Aging (2008) 0.99
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet (1998) 0.98
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol (2006) 0.97
[Alzheimer's presenile dementia transmitted in an extended kindred]. Rev Neurol (Paris) (1985) 0.93
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Mol Genet (1999) 0.90
Pick bodies in a family with presenilin-1 Alzheimer's disease. Ann Neurol (2005) 0.90
Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD. Neurology (2000) 0.86
A new Italian pedigree with early-onset Alzheimer's disease. J Geriatr Psychiatry Neurol (1994) 0.80
Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease: a Calabrian study. Funct Neurol (1999) 0.79
Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation. J Neuropsychiatry Clin Neurosci (2000) 0.79
The power of systematic genealogical study in familial Alzheimer disease. Ital J Neurol Sci (1993) 0.78
Alpha-synuclein in Lewy bodies. Nature (1997) 20.83
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature (1995) 13.80
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet (2013) 9.46
The potential impacts of climate variability and change on temperature-related morbidity and mortality in the United States. Environ Health Perspect (2001) 9.12
Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron (1989) 8.04
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature (2000) 4.68
Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron (1992) 4.22
Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature (1996) 4.12
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nat Med (1997) 4.10
Randomized trial of fenretinide to prevent second breast malignancy in women with early breast cancer. J Natl Cancer Inst (1999) 4.04
Susceptibility of mitogen-activated protein kinase kinase family members to proteolysis by anthrax lethal factor. Biochem J (2000) 3.83
Identification of two distinct synucleins from human brain. FEBS Lett (1994) 3.61
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59
Controlled trial of physical training in chronic heart failure. Exercise performance, hemodynamics, ventilation, and autonomic function. Circulation (1992) 3.56
Neurotoxicity of a prion protein fragment. Nature (1993) 3.38
Physiology and pathophysiology of heart rate and blood pressure variability in humans: is power spectral analysis largely an index of baroreflex gain? Clin Sci (Lond) (1995) 2.92
Cerberus-like is a secreted factor with neutralizing activity expressed in the anterior primitive endoderm of the mouse gastrula. Mech Dev (1997) 2.83
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder. Nature (1990) 2.80
Down patients: extracellular preamyloid deposits precede neuritic degeneration and senile plaques. Neurosci Lett (1989) 2.69
Phase I clinical and pharmacokinetic study of oral S-1 in patients with advanced solid tumors. J Clin Oncol (2000) 2.60
Update on Hsp90 inhibitors in clinical trial. Curr Top Med Chem (2009) 2.34
Sporadic Creutzfeldt-Jakob disease: co-occurrence of different types of PrP(Sc) in the same brain. Neurology (1999) 2.33
APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry (2011) 2.31
Preamyloid deposits in the cerebral cortex of patients with Alzheimer's disease and nondemented individuals. Neurosci Lett (1988) 2.26
EFNS guidelines for the diagnosis and management of Alzheimer's disease. Eur J Neurol (2010) 2.21
Prognostic factors in patients with pleural mesothelioma: the European Organization for Research and Treatment of Cancer experience. J Clin Oncol (1998) 2.15
Neuropathological diagnostic criteria for Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol (1995) 2.10
MCI conversion to dementia and the APOE genotype: a prediction study with FDG-PET. Neurology (2004) 2.07
[Effects of levofolinic acid on plasma homocysteine concentrations in healthy and young women in preconceptional care]. Med Clin (Barc) (2001) 2.06
Social class, coronary risk factors and undernutrition, a double burden of diseases, in women during transition, in five Indian cities. Int J Cardiol (1999) 2.04
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat Med (1999) 2.03
An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nat Genet (1999) 2.01
Association of early-onset Alzheimer's disease with an interleukin-1alpha gene polymorphism. Ann Neurol (2000) 1.99
Full length alpha-synuclein is present in cerebrospinal fluid from Parkinson's disease and normal subjects. Neurosci Lett (2000) 1.98
Rating of the lesions in senile dementia of the Alzheimer type: concordance between laboratories. A European multicenter study under the auspices of EURAGE. J Neurol Sci (1990) 1.96
Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A (1996) 1.94
Association of primary Pneumocystis carinii infection and sudden infant death syndrome. Clin Infect Dis (1999) 1.94
Circulating V(alpha24+) Vbeta11+ NKT cell numbers are decreased in a wide variety of diseases that are characterized by autoreactive tissue damage. Clin Immunol (2001) 1.94
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology (2010) 1.93
Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein. Acta Neuropathol (2000) 1.92
Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology (2011) 1.90
alpha-synuclein metabolism and aggregation is linked to ubiquitin-independent degradation by the proteasome. FEBS Lett (2001) 1.87
Lower limb enthesopathy in patients with psoriasis without clinical signs of arthropathy: a hospital-based case-control study. Ann Rheum Dis (2007) 1.86
Tissue handling in suspected Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases) Brain Pathol (1995) 1.86
Localization of serum-derived alpha 2 macroglobulin in cultured cells and decrease after Moloney sarcoma virus transformation. Cell (1977) 1.86
The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. J Biol Chem (1998) 1.83
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. JAMA (2001) 1.82
Hawking radiation from ultrashort laser pulse filaments. Phys Rev Lett (2010) 1.80
Synthetic filaments assembled from C-terminally truncated alpha-synuclein. FEBS Lett (1998) 1.79
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol (1998) 1.79
Somatodendritic localization and hyperphosphorylation of tau protein in transgenic mice expressing the longest human brain tau isoform. EMBO J (1995) 1.77
Yoga and chemoreflex response to hypoxia and hypercapnia. Lancet (2000) 1.77
The World Heart Federation's white book: impending global pandemic of cardiovascular diseases: challenges and opportunities for the prevention and control of cardiovascular diseases in developing countries and economies in transition. Can J Cardiol (2000) 1.77
The modernization of Asia. Implications for coronary heart disease. Council on Arteriosclerosis of the International Society and Federation of Cardiology. Circulation (1996) 1.76
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology (2000) 1.76
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA (1998) 1.76
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet (1992) 1.76
Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. EMBO J (1991) 1.74
Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci U S A (1999) 1.73
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology (2007) 1.71
The Rao's Brief Repeatable Battery and Stroop Test: normative values with age, education and gender corrections in an Italian population. Mult Scler (2006) 1.71
Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. J Biol Chem (2000) 1.71
Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. Science (1997) 1.70