PubRank

Bernardino Ghetti

Author PubWeight™ 175.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012 14.14
2 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011 10.07
3 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010 5.52
4 Protective variant for hippocampal atrophy identified by whole exome sequencing. Ann Neurol 2015 5.10
5 Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 2009 4.73
6 Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol 2008 4.73
7 Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology. EMBO Rep 2006 4.06
8 Abundant tau filaments and nonapoptotic neurodegeneration in transgenic mice expressing human P301S tau protein. J Neurosci 2002 2.80
9 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011 2.76
10 Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007 2.72
11 A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol 2013 2.32
12 Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. Proc Natl Acad Sci U S A 2002 2.29
13 Brain homogenates from human tauopathies induce tau inclusions in mouse brain. Proc Natl Acad Sci U S A 2013 2.27
14 Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology 2012 2.08
15 Accumulation of prion protein in the brain that is not associated with transmissible disease. Proc Natl Acad Sci U S A 2007 2.06
16 Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet 2002 2.02
17 Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet 2011 2.02
18 TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 2009 1.95
19 Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network. Clin Investig (Lond) 2012 1.90
20 Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease. Proc Natl Acad Sci U S A 2013 1.58
21 Pathological changes in dopaminergic nerve cells of the substantia nigra and olfactory bulb in mice transgenic for truncated human alpha-synuclein(1-120): implications for Lewy body disorders. J Neurosci 2006 1.57
22 Chitin-like polysaccharides in Alzheimer's disease brains. Curr Alzheimer Res 2005 1.51
23 Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD. J Biol Chem 2004 1.50
24 Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques. Biochemistry 2005 1.47
25 Ubiquitination of alpha-synuclein in Lewy bodies is a pathological event not associated with impairment of proteasome function. J Biol Chem 2003 1.47
26 Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 2006 1.47
27 Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet 2012 1.46
28 Longitudinal change in CSF biomarkers in autosomal-dominant Alzheimer's disease. Sci Transl Med 2014 1.45
29 Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family. Can J Neurol Sci 2003 1.40
30 Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease. J Biol Chem 2008 1.40
31 Corticobasal syndrome associated with the A9D Progranulin mutation. J Neuropathol Exp Neurol 2007 1.39
32 SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease. Brain 2010 1.38
33 Molecular distinction between pathogenic and infectious properties of the prion protein. J Virol 2003 1.38
34 Analysis of tau phosphorylation and truncation in a mouse model of human tauopathy. Am J Pathol 2007 1.32
35 Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification. Acta Neuropathol 2009 1.32
36 The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. Neurogenetics 2006 1.31
37 Expression of a mutant form of the ferritin light chain gene induces neurodegeneration and iron overload in transgenic mice. J Neurosci 2008 1.30
38 Frontotemporal dementia: implications for understanding Alzheimer disease. Cold Spring Harb Perspect Med 2012 1.23
39 Characteristics of frontotemporal dementia patients with a Progranulin mutation. Ann Neurol 2006 1.22
40 White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration. J Neuropathol Exp Neurol 2008 1.21
41 Bax deletion prevents neuronal loss but not neurological symptoms in a transgenic model of inherited prion disease. Proc Natl Acad Sci U S A 2004 1.18
42 The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family. Brain 2007 1.18
43 MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012 1.17
44 Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene. J Neurochem 2009 1.14
45 Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol 2011 1.13
46 Agent strain variation in human prion disease: insights from a molecular and pathological review of the National Institutes of Health series of experimentally transmitted disease. Brain 2010 1.12
47 Cerebral amyloid angiopathy and parenchymal amyloid deposition in transgenic mice expressing the Danish mutant form of human BRI2. Brain Pathol 2008 1.10
48 Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations. J Neuropathol Exp Neurol 2009 1.09
49 Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 2004 1.09
50 TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol 2014 1.08
51 Neurodegenerative illness in transgenic mice expressing a transmembrane form of the prion protein. J Neurosci 2005 1.07
52 Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. Arch Neurol 2007 1.07
53 Aggregated, wild-type prion protein causes neurological dysfunction and synaptic abnormalities. J Neurosci 2008 1.07
54 Neurodegeneration caused by proteins with an aberrant carboxyl-terminus. J Neuropathol Exp Neurol 2004 1.06
55 Influence of genetic variation on plasma protein levels in older adults using a multi-analyte panel. PLoS One 2013 1.06
56 Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 2012 1.05
57 GFP-tagged prion protein is correctly localized and functionally active in the brains of transgenic mice. Neurobiol Dis 2004 1.02
58 Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013 1.02
59 Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. Arch Neurol 2011 1.01
60 Detection of filamentous tau inclusions by the fluorescent Congo red derivative FSB [(trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene]. FEBS Lett 2008 1.00
61 A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol 2002 0.98
62 Prion protein with an octapeptide insertion has impaired neuroprotective activity in transgenic mice. EMBO J 2007 0.98
63 Redox metals and oxidative abnormalities in human prion diseases. Acta Neuropathol 2005 0.98
64 Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Orphanet J Rare Dis 2006 0.97
65 Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations. Mol Neurodegener 2008 0.96
66 The genetics of very early onset Alzheimer disease. Cogn Behav Neurol 2007 0.94
67 Modeling familial British and Danish dementia. Brain Struct Funct 2009 0.93
68 PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker disease. Brain Pathol 2009 0.93
69 Altered APP processing in PDAPP (Val717 --> Phe) transgenic mice yields extended-length Abeta peptides. Biochemistry 2005 0.93
70 Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits. J Neuropathol Exp Neurol 2006 0.92
71 Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene. Acta Neuropathol 2005 0.92
72 The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord 2005 0.91
73 Mutant presenilin 1 increases the expression and activity of BACE1. J Biol Chem 2009 0.91
74 Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation. PLoS One 2012 0.90
75 Mechanism of PrP-amyloid formation in mice without transmissible spongiform encephalopathy. Brain Pathol 2011 0.89
76 Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC). Mov Disord 2009 0.89
77 Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. Acta Neuropathol 2014 0.88
78 Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains. Acta Neuropathol 2007 0.88
79 Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. Arch Neurol 2002 0.87
80 The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice. FASEB J 2012 0.87
81 Pathologic prion protein is specifically recognized in situ by a novel PrP conformational antibody. Neurobiol Dis 2006 0.87
82 Abnormal iron metabolism in fibroblasts from a patient with the neurodegenerative disease hereditary ferritinopathy. Mol Neurodegener 2010 0.87
83 Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Brain Pathol 2014 0.86
84 APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38. Acta Neuropathol 2012 0.86
85 The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta Neuropathol 2006 0.86
86 Hereditary ferritinopathy. J Neurol Sci 2003 0.85
87 Association of ideomotor apraxia with frontal gray matter volume loss in corticobasal syndrome. Arch Neurol 2009 0.85
88 Failure to detect the presence of prions in the uterine and gestational tissues from a Gravida with Creutzfeldt-Jakob disease. Am J Pathol 2009 0.85
89 P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein. J Neurol Sci 2002 0.85
90 Cell-cycle markers in a transgenic mouse model of human tauopathy: increased levels of cyclin-dependent kinase inhibitors p21Cip1 and p27Kip1. Am J Pathol 2006 0.84
91 Characterization of the F198S prion protein mutation: enhanced glycosylation and defective refolding. J Alzheimers Dis 2005 0.84
92 Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurol 2015 0.84
93 Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation. Neurodegener Dis 2011 0.84
94 PARP1 gene variation and microglial activity on [(11)C]PBR28 PET in older adults at risk for Alzheimer's disease. Multimodal Brain Image Anal (2013) 2013 0.83
95 Soluble amyloid beta-protein is increased in frontotemporal dementia with tau gene mutations. J Alzheimers Dis 2004 0.83
96 Inhibition of insulin-like growth factor I activity contributes to the premature apoptosis of cerebellar granule neuron in weaver mutant mice: in vitro analysis. J Neurosci Res 2002 0.83
97 Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. Brain Pathol 2011 0.83
98 Presenilin-1 280Glu-->Ala mutation alters C-terminal APP processing yielding longer abeta peptides: implications for Alzheimer's disease. Mol Med 2008 0.82
99 The human amyloid-beta precursor protein770 mutation V717F generates peptides longer than amyloid-beta-(40-42) and flocculent amyloid aggregates. J Biol Chem 2003 0.82
100 Alois Alzheimer: his life and times. Brain Pathol 2007 0.82
101 Genetic heterogeneity in Alzheimer disease and implications for treatment strategies. Curr Neurol Neurosci Rep 2014 0.82
102 Neocortical variation of Abeta load in fully expressed, pure Alzheimer's disease. J Alzheimers Dis 2010 0.81
103 Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations. Am J Neurodegener Dis 2013 0.81
104 Performance on MMSE sub-items and education level in presenilin-1 mutation carriers without dementia. Int Psychogeriatr 2007 0.80
105 Characterization of amyloid deposits in neurodegenerative diseases. Methods Mol Biol 2011 0.80
106 Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD). J Alzheimers Dis 2006 0.79
107 Dementia with Lewy bodies in a Nigerian: a case report. Int Psychogeriatr 2002 0.79
108 Early-onset dementia with Lewy bodies. Brain Pathol 2004 0.79
109 Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice. PLoS One 2013 0.79
110 Correction: Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains. PLoS Pathog 2015 0.79
111 A combined immunohistochemical and autoradiographic method to detect midbrain dopaminergic neurons and determine their time of origin. Brain Res Brain Res Protoc 2002 0.78
112 A murine model of a familial prion disease. Clin Lab Med 2003 0.78
113 The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease. J Neuropathol Exp Neurol 2007 0.77
114 Aberrantly regulated proteins in frontotemporal dementia. Biochem Biophys Res Commun 2006 0.77
115 Rapidly progressive atypical parkinsonism associated with frontotemporal lobar degeneration and motor neuron disease. J Neurol Neurosurg Psychiatry 2010 0.76
116 Frontotemporal dementia: the post-tau era. Neurology 2006 0.76
117 Generation of a novel murine model of Aβ deposition based on the expression of human wild-type amyloid precursor protein gene. Prion 2012 0.75
118 Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease. J Biol Chem 2014 0.75
119 Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene. Arch Neurol 2004 0.75
120 Correction: Quantitative Amyloid Imaging in Autosomal Dominant Alzheimer's Disease: Results from the DIAN Study Group. PLoS One 2016 0.75
121 Generation and survival of midbrain dopaminergic neurons in weaver mice. Int J Dev Neurosci 2007 0.75
122 Inge Grundke-Iqbal, Ph.D. (1937–2012): the discoverer of the abnormal hyperphosphorylation of tau in Alzheimer’s disease. J Mol Neurosci 2013 0.75
123 Purkinje cell age-distribution in fissures and in foliar crowns: a comparative study in the weaver cerebellum. Brain Struct Funct 2007 0.75
124 Regional differences in the Purkinje cells settled pattern: a comparative autoradiographic study in control and homozygous weaver mice. Exp Neurol 2002 0.75
125 American Journal of Neurodegenerative Disease: Editorial Board (2012) e-Century Publishing Corporation. Am J Neurodegener Dis 2012 0.75
126 Regional differences in the vulnerability of substantia nigra dopaminergic neurons in weaver mice. Acta Neurobiol Exp (Wars) 2009 0.75