PubRank

Pascal Reynier

Author PubWeight™ 71.13‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2007 3.35
2 Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2007 3.14
3 Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism. Biochim Biophys Acta 2010 1.79
4 Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 2009 1.67
5 Heterozygous OPA1 mutations in Behr syndrome. Brain 2010 1.57
6 eOPA1: an online database for OPA1 mutations. Hum Mutat 2005 1.43
7 OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009 1.40
8 Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta 2006 1.35
9 Two-step differential expression analysis reveals a new set of genes involved in thyroid oncocytic tumors. J Clin Endocrinol Metab 2004 1.35
10 Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 2008 1.33
11 Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 2007 1.30
12 Structure and chromosomal distribution of human mitochondrial pseudogenes. Genomics 2002 1.27
13 OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol 2009 1.19
14 Transcriptional profiling reveals coordinated up-regulation of oxidative metabolism genes in thyroid oncocytic tumors. J Clin Endocrinol Metab 2004 1.19
15 OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005 1.18
16 OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res 2010 1.17
17 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 2002 1.14
18 PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. Biochem Biophys Res Commun 2003 1.14
19 Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007 1.13
20 Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol 2010 1.12
21 Dominant optic atrophy. Orphanet J Rare Dis 2012 1.11
22 Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet 2007 1.10
23 Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta. Am J Physiol Endocrinol Metab 2005 1.03
24 The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain 2012 1.03
25 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003 0.99
26 Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells. J Biol Chem 2013 0.98
27 Low serum testosterone assayed by liquid chromatography-tandem mass spectrometry. Comparison with five immunoassay techniques. Clin Chim Acta 2007 0.97
28 Mitochondrial DNA in the oocyte and the developing embryo. Curr Top Dev Biol 2007 0.97
29 Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 2012 0.96
30 Comparison of spheroids formed by rat glioma stem cells and neural stem cells reveals differences in glucose metabolism and promising therapeutic applications. J Biol Chem 2012 0.96
31 Increase of mitochondrial DNA content and transcripts in early bovine embryogenesis associated with upregulation of mtTFA and NRF1 transcription factors. Reprod Biol Endocrinol 2005 0.94
32 Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol 2008 0.93
33 Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions. Anal Biochem 2012 0.92
34 Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2010 0.91
35 Gene profiling reveals specific oncogenic mechanisms and signaling pathways in oncocytic and papillary thyroid carcinoma. Oncogene 2005 0.91
36 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003 0.90
37 Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. FASEB J 2011 0.89
38 Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. Neuromuscul Disord 2007 0.89
39 Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2008 0.89
40 Genetically determined optic neuropathies. Curr Opin Neurol 2010 0.89
41 Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta 2012 0.89
42 Mitochondrial bioenergetic background confers a survival advantage to HepG2 cells in response to chemotherapy. Mol Carcinog 2009 0.89
43 Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion 2010 0.88
44 Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet 2013 0.87
45 MFN2, a new gene responsible for mitochondrial DNA depletion. Brain 2012 0.87
46 Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol 2013 0.86
47 Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling. Hum Reprod 2012 0.86
48 Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. Hum Mutat 2014 0.85
49 A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis 2011 0.85
50 Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function. Int J Biochem Cell Biol 2012 0.84
51 Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 2009 0.84
52 Sensorineural hearing loss in OPA1-linked disorders. Brain 2013 0.84
53 New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation. BMC Med Genet 2008 0.82
54 Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Mol Vis 2009 0.82
55 Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration. BMC Res Notes 2011 0.82
56 Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. Mitochondrion 2009 0.81
57 Never too old to harbour a young man's disease? Br J Ophthalmol 2011 0.81
58 A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease. Biochem Biophys Res Commun 2005 0.81
59 Early compaction at day 3 may be a useful additional criterion for embryo transfer. J Assist Reprod Genet 2013 0.79
60 Decreased expression of thyrotropin receptor gene suggests a high-risk subgroup for oncocytic adenoma. Eur J Endocrinol 2004 0.79
61 Oxygen consumption and expression of the adenine nucleotide translocator in cells lacking mitochondrial DNA. Exp Cell Res 2002 0.79
62 OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background. BMC Med Genet 2009 0.78
63 [Mitochondria and reproduction]. Med Sci (Paris) 2004 0.78
64 [Neurotoxicity of pesticides: its relationship with neurodegenerative diseases]. Med Sci (Paris) 2013 0.77
65 mtDNA controls expression of the Death Associated Protein 3. Exp Cell Res 2006 0.77
66 Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. Eur J Ophthalmol 2012 0.76
67 Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization? J Assist Reprod Genet 2013 0.75
68 Is ABCC6 a genuine mitochondrial protein? BMC Res Notes 2013 0.75
69 [From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]. Med Sci (Paris) 2010 0.75
70 Mitochondrial diseases preferentially involve proteins with prokaryote homologues. C R Biol 2004 0.75