PubRank

Dominique Campion

Author PubWeight™ 124.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009 14.86
2 Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010 9.52
3 Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011 9.23
4 APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2005 7.66
5 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013 7.44
6 Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009 2.82
7 Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013 2.62
8 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
9 A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell 2008 2.55
10 TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol 2009 2.30
11 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2012 2.05
12 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013 2.02
13 Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain 2008 1.84
14 Phenotype associated with APP duplication in five families. Brain 2006 1.83
15 Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat 2007 1.69
16 Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. J Alzheimers Dis 2010 1.65
17 TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis 2013 1.57
18 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet 2006 1.50
19 PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002 1.36
20 Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat 2007 1.20
21 The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study. J Alzheimers Dis 2010 1.19
22 ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis 2005 1.16
23 Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila. Hum Mol Genet 2007 1.12
24 Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat 2015 1.11
25 Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies. Neurobiol Dis 2010 1.10
26 PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci 2014 1.10
27 No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiol Aging 2009 1.10
28 Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A 2005 1.07
29 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 2013 1.05
30 Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry 2012 1.05
31 The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis 2012 1.03
32 Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. J Alzheimers Dis 2010 1.03
33 Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis 2008 1.03
34 Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease. Neurosci Lett 2002 1.00
35 Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis 2008 0.98
36 Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat 2006 0.97
37 Tau is not normally degraded by the proteasome. J Neurosci Res 2005 0.94
38 Association between the extended tau haplotype and frontotemporal dementia. Arch Neurol 2002 0.94
39 Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila. Neurobiol Aging 2011 0.94
40 Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein. J Neurochem 2010 0.93
41 A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet 2011 0.92
42 A concordance study of three electrophysiological measures in schizophrenia. Am J Psychiatry 2005 0.92
43 EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics. BMC Bioinformatics 2012 0.92
44 Amyloid precursor protein controls cholesterol turnover needed for neuronal activity. EMBO Mol Med 2013 0.91
45 Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. Neurogenetics 2014 0.91
46 Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis. Eur J Hum Genet 2002 0.90
47 Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia. Br J Psychiatry 2010 0.87
48 Is the saitohin gene involved in neurodegenerative diseases? Ann Neurol 2002 0.85
49 Frontotemporal dementia phenotype associated with MAPT gene duplication. J Alzheimers Dis 2010 0.85
50 Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease. Hum Mol Genet 2008 0.85
51 Filamin-A and Myosin VI colocalize with fibrillary Tau protein in Alzheimer's disease and FTDP-17 brains. Brain Res 2010 0.84
52 Inhibition of proteasome and Shaggy/Glycogen synthase kinase-3beta kinase prevents clearance of phosphorylated tau in Drosophila. J Neurosci Res 2006 0.84
53 A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain 2004 0.84
54 P50 inhibitory gating deficit is correlated with the negative symptomatology of schizophrenia. Psychiatry Res 2005 0.83
55 Early neurological phenotype in 4 children with biallelic PRODH mutations. Brain Dev 2007 0.82
56 ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia. Psychiatr Genet 2007 0.81
57 ABCA7 rare variants and Alzheimer disease risk. Neurology 2016 0.81
58 BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients. Mol Neurobiol 2012 0.81
59 Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. J Alzheimers Dis 2012 0.81
60 Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions. J Alzheimers Dis 2012 0.81
61 Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. Am J Med Genet A 2003 0.81
62 Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum Mutat 2009 0.80
63 MR, (18)F-FDG, and (18)F-AV45 PET correlate with AD PSEN1 original phenotype. Alzheimer Dis Assoc Disord 2013 0.80
64 Copy number variations involving the microtubule-associated protein tau in human diseases. Biochem Soc Trans 2012 0.80
65 Type I hyperprolinemia: genotype/phenotype correlations. Hum Mutat 2010 0.80
66 Amyloid imaging with AV45 ((18)F-florbetapir) in a cognitively normal AβPP duplication carrier. J Alzheimers Dis 2012 0.79
67 Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study. Schizophr Res 2012 0.79
68 Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. Am J Med Genet B Neuropsychiatr Genet 2003 0.79
69 No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease. Neurosci Lett 2003 0.79
70 Hyperprolinemia is not associated with childhood onset schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2006 0.78
71 Study of thyroid hormone receptor alpha gene polymorphisms on Alzheimer's disease. Neurobiol Aging 2009 0.78
72 A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. Neurosci Lett 2009 0.78
73 Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. Psychiatr Genet 2008 0.77
74 Is the urea cycle involved in Alzheimer's disease? J Alzheimers Dis 2010 0.77
75 Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease? Neurosci Lett 2008 0.77
76 A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism. Neurosci Lett 2003 0.76
77 Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes. PLoS One 2015 0.75
78 Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration. Neurogenetics 2014 0.75
79 [Familial forms of Alzheimer's disease]. Presse Med 2003 0.75
80 From Common to Rare Variants: The Genetic Component of Alzheimer Disease. Hum Hered 2016 0.75
81 No pathogenic rearrangement within the DISC 1 gene in psychosis. Am J Med Genet B Neuropsychiatr Genet 2009 0.75
82 A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man. J Am Geriatr Soc 2013 0.75
83 [APP duplication causes autosomal dominant Alzheimer disease with cerebral amyloid angiopathy]. Med Sci (Paris) 2006 0.75