Published in Am J Med Genet B Neuropsychiatr Genet on May 15, 2003
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain (2013) 1.05
Obsessive-compulsive disorder and its related disorders: a reappraisal of obsessive-compulsive spectrum concepts. Dialogues Clin Neurosci (2010) 0.96
Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive-compulsive disorder as an example of overlapping clinical and genetic heterogeneity. Philos Trans R Soc Lond B Biol Sci (2013) 0.94
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J Med Genet (2005) 0.94
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst (2007) 2.77
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet (2013) 2.62
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA (2005) 2.59
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell (2008) 2.55
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol (2009) 2.30
Vagus nerve stimulation for drug-resistant epilepsy: a European long-term study up to 24 months in 347 children. Epilepsia (2014) 2.15
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain (2013) 2.02
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet (2010) 1.85
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain (2008) 1.84
Phenotype associated with APP duplication in five families. Brain (2006) 1.83
Treatment of anterior communicating artery aneurysms: complementary aspects of microsurgical and endovascular procedures. J Neurosurg (2003) 1.79
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain (2007) 1.76
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol (2004) 1.72
Dissociating atrophy and hypometabolism impact on episodic memory in mild cognitive impairment. Brain (2003) 1.72
Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat (2007) 1.69
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat (2002) 1.66
Implication of the immune system in Alzheimer's disease: evidence from genome-wide pathway analysis. J Alzheimers Dis (2010) 1.65
Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol (2009) 1.62
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat (2012) 1.61
Quality of life and brain damage after microsurgical clip occlusion or endovascular coil embolization for ruptured anterior communicating artery aneurysms: neuropsychological assessment. J Neurosurg (2009) 1.61
TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis (2013) 1.57
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain (2013) 1.51
Long-term follow-up of acute partial transverse myelitis. Arch Neurol (2012) 1.50
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet (2006) 1.50
FDG-PET measurement is more accurate than neuropsychological assessments to predict global cognitive deterioration in patients with mild cognitive impairment. Neurocase (2005) 1.49
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
MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res (2002) 1.41
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet (2002) 1.36
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat (2011) 1.26
Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers. Eur J Hum Genet (2011) 1.21
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat (2007) 1.20
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
Deleterious mutations in exon 1 of MECP2 in Rett syndrome. Eur J Med Genet (2005) 1.17
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. Neurobiol Dis (2005) 1.16
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis (2013) 1.16
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A (2006) 1.15
Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol (2010) 1.12
Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila. Hum Mol Genet (2007) 1.12
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification. Hum Mutat (2015) 1.11
Movement disorders and Creutzfeldt-Jakob disease: a review. Parkinsonism Relat Disord (2005) 1.11
Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies. Neurobiol Dis (2010) 1.10
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy. J Mol Neurosci (2014) 1.10
No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiol Aging (2009) 1.10
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. Brain (2006) 1.08
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A (2005) 1.07
Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene (2003) 1.07
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol (2013) 1.05
Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry (2012) 1.05
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet (2012) 1.04
Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study. J Alzheimers Dis (2010) 1.03
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis (2012) 1.03
Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis (2008) 1.03
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis. J Alzheimers Dis (2010) 1.02
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Hum Mutat (2006) 1.02
Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease. Neurosci Lett (2002) 1.00
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease. Neurobiol Dis (2008) 0.98