T Bourgeron

Author PubWeight™ 37.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994 4.93
2 Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry 2002 2.51
3 SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. Mol Psychiatry 2011 1.79
4 Abnormal melatonin synthesis in autism spectrum disorders. Mol Psychiatry 2007 1.79
5 Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995 1.59
6 Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cytogenet Genome Res 2011 1.54
7 Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1997 1.27
8 Reference charts for respiratory chain activities in human tissues. Clin Chim Acta 1994 1.21
9 Assessment of the mitochondrial respiratory chain. Lancet 1991 1.16
10 Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission. Nature 2014 1.14
11 Gene sequence, localization, and evolutionary conservation of DAZLA, a candidate male sterility gene. Genomics 1997 1.11
12 Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 1994 1.10
13 Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996 1.10
14 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Transl Psychiatry 2012 1.08
15 The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. Biochem Biophys Res Commun 1990 1.02
16 Genome-wide scan for genes involved in bipolar affective disorder in 70 European families ascertained through a bipolar type I early-onset proband: supportive evidence for linkage at 3p14. Mol Psychiatry 2006 1.01
17 Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening. Transl Psychiatry 2013 1.01
18 Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations. Hum Mol Genet 1998 0.99
19 Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Mol Psychiatry 2005 0.97
20 Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells. J Biol Chem 1996 0.95
21 Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution. Genomics 2001 0.95
22 Y chromosome haplogroups in autistic subjects. Mol Psychiatry 2002 0.90
23 Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia. Neuroreport 2004 0.90
24 A high frequency of Y chromosome deletions in males with nonidiopathic infertility. J Clin Endocrinol Metab 1999 0.89
25 An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle. Clin Chim Acta 1995 0.85
26 Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia. Genomics 2001 0.84
27 Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. Muscle Nerve Suppl 1995 0.83
28 The investigation of respiratory chain disorders in heart using endomyocardial biopsies. J Inherit Metab Dis 1993 0.80
29 Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts. Eur J Pediatr 1993 0.79
30 Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous. Prenat Diagn 1992 0.78
31 [Genetic control of spermatogenesis: Y chromosome and male infertility]. Ann Biol Clin (Paris) 1999 0.77
32 Investigation of respiratory chain activity in human heart. Biochem Med Metab Biol 1993 0.75
33 [The Human Genome Project and the genetics of infertility]. Gynecol Obstet Fertil 2000 0.75
34 Kidney involvement in mitochondrial disorders. Adv Nephrol Necker Hosp 1995 0.75
35 Mitochondrial DNA inheritance in patients with deleted mtDNA. J Med Genet 2001 0.75