Published in Neurology on January 01, 1986
Phase III Trial of Coenzyme Q10 in Mitochondrial Disease | NCT00432744
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci U S A (1989) 2.63
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
The development of mitochondrial medicine. Proc Natl Acad Sci U S A (1994) 1.68
Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET). J Neurol Neurosurg Psychiatry (1989) 1.56
Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med (2014) 1.13
Morphological observations in skeletal muscle from patients with a mitochondrial myopathy. J Inherit Metab Dis (1987) 0.95
Therapy of mitochondrial disorders. J Inherit Metab Dis (1987) 0.92
Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells. J Inherit Metab Dis (1987) 0.91
Treatment of mitochondrial disease. J Bioenerg Biomembr (1997) 0.87
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration. J Neurol Neurosurg Psychiatry (1987) 0.83
Adult-onset mitochondrial myopathy. Postgrad Med J (1992) 0.81
Alzheimer's disease: A hypothesis on pathogenesis. J Am Aging Assoc (2000) 0.81
Current experience in testing mitochondrial nutrients in disorders featuring oxidative stress and mitochondrial dysfunction: rational design of chemoprevention trials. Int J Mol Sci (2014) 0.78
De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report. J Med Case Rep (2009) 0.76
Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension. Arch Plast Surg (2015) 0.75
Genetic alterations during colorectal-tumor development. N Engl J Med (1988) 26.82
Variable number of tandem repeat (VNTR) markers for human gene mapping. Science (1987) 25.71
Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. Biochem Biophys Res Commun (1999) 14.25
Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science (1989) 11.53
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science (1991) 9.89
Plasma concentrations of a novel, adipose-specific protein, adiponectin, in type 2 diabetic patients. Arterioscler Thromb Vasc Biol (2000) 9.85
Identification of human herpesvirus-6 as a causal agent for exanthem subitum. Lancet (1988) 8.76
Complete genome sequence of an aerobic hyper-thermophilic crenarchaeon, Aeropyrum pernix K1. DNA Res (1999) 7.39
Novel modulator for endothelial adhesion molecules: adipocyte-derived plasma protein adiponectin. Circulation (2000) 6.96
BIBW2992, an irreversible EGFR/HER2 inhibitor highly effective in preclinical lung cancer models. Oncogene (2008) 6.82
Quantum computers. Nature (2010) 6.79
Development of a self-inactivating lentivirus vector. J Virol (1998) 6.60
A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature (2000) 6.01
When is cancer pain mild, moderate or severe? Grading pain severity by its interference with function. Pain (1995) 5.97
A single intravenous infusion of gamma globulin as compared with four infusions in the treatment of acute Kawasaki syndrome. N Engl J Med (1991) 5.76
p53AIP1, a potential mediator of p53-dependent apoptosis, and its regulation by Ser-46-phosphorylated p53. Cell (2000) 5.64
Allelotype of colorectal carcinomas. Science (1989) 5.54
The action of tetrodotoxin on electrogenic components of squid giant axons. J Gen Physiol (1965) 5.42
Adiponectin, an adipocyte-derived plasma protein, inhibits endothelial NF-kappaB signaling through a cAMP-dependent pathway. Circulation (2000) 5.36
AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. Nat Genet (2000) 5.26
Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science (1993) 5.22
PPARgamma ligands increase expression and plasma concentrations of adiponectin, an adipose-derived protein. Diabetes (2001) 5.18
Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet (1992) 5.14
Complete genome structure of the nitrogen-fixing symbiotic bacterium Mesorhizobium loti. DNA Res (2000) 4.94
Usefulness of diffusion-weighted MRI with echo-planar technique in the evaluation of cellularity in gliomas. J Magn Reson Imaging (1999) 4.94
Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science (1993) 4.63
Rapid colorectal adenoma formation initiated by conditional targeting of the Apc gene. Science (1997) 4.62
Comparison of MB-Check, BACTEC, and egg-based media for recovery of mycobacteria. J Clin Microbiol (1992) 4.55
The treatment of Kawasaki syndrome with intravenous gamma globulin. N Engl J Med (1986) 4.49
The gene for familial polyposis coli maps to the long arm of chromosome 5. Science (1987) 4.48
Transient regulation of protein synthesis in Escherichia coli upon shift-up of growth temperature. J Bacteriol (1978) 4.38
Complete genomic sequence of the filamentous nitrogen-fixing cyanobacterium Anabaena sp. strain PCC 7120. DNA Res (2001) 4.27
A primary genetic map of markers of human chromosome 10. Genomics (1988) 4.23
Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res (1992) 4.21
Complete genome sequence of the alkaliphilic bacterium Bacillus halodurans and genomic sequence comparison with Bacillus subtilis. Nucleic Acids Res (2000) 4.11
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell (1993) 4.04
Detection of Mycobacterium tuberculosis in clinical specimens by polymerase chain reaction and Gen-Probe Amplified Mycobacterium Tuberculosis Direct Test. J Clin Microbiol (1993) 4.04
Identification and characterization of the potential promoter regions of 1031 kinds of human genes. Genome Res (2001) 4.03
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature (1988) 3.96
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature (1998) 3.86
Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell (1985) 3.86
Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites. EMBO Rep (2001) 3.47
K-252 compounds, novel and potent inhibitors of protein kinase C and cyclic nucleotide-dependent protein kinases. Biochem Biophys Res Commun (1987) 3.46
Results of surgical and nonsurgical treatment for small-sized hepatocellular carcinomas: a retrospective and nationwide survey in Japan. The Liver Cancer Study Group of Japan. Hepatology (2000) 3.42
Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet (2000) 3.42
Stable and efficient gene transfer into the retina using an HIV-based lentiviral vector. Proc Natl Acad Sci U S A (1997) 3.40
Altered urinary bladder function in mice lacking the vanilloid receptor TRPV1. Nat Neurosci (2002) 3.28
Live vaccine used to prevent the spread of varicella in children in hospital. Lancet (1974) 3.24
Rapid confirmation of single copy lambda prophage integration by PCR. Nucleic Acids Res (1994) 3.19
Genome-wide analysis of gene expression in human hepatocellular carcinomas using cDNA microarray: identification of genes involved in viral carcinogenesis and tumor progression. Cancer Res (2001) 3.18
A high-throughput SNP typing system for genome-wide association studies. J Hum Genet (2001) 3.18
Isolation and mapping of a polymorphic DNA sequence (pTHH22) on chromosome 9 [D9S12]. Nucleic Acids Res (1988) 3.17
IL-6 is produced by osteoblasts and induces bone resorption. J Immunol (1990) 3.14
Gene organization deduced from the complete sequence of liverwort Marchantia polymorpha mitochondrial DNA. A primitive form of plant mitochondrial genome. J Mol Biol (1992) 3.11
Enhanced expression of PAI-1 in visceral fat: possible contributor to vascular disease in obesity. Nat Med (1996) 3.02
Complete genome sequence of an aerobic thermoacidophilic crenarchaeon, Sulfolobus tokodaii strain7. DNA Res (2001) 2.99
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet (1988) 2.97
Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature (1988) 2.96
Characterization of a multicomponent receptor for GDNF. Nature (1996) 2.92
Herpesviridae. Definition, provisional nomenclature, and taxonomy. The Herpesvirus Study Group, the International Committee on Taxonomy of Viruses. Intervirology (1981) 2.92
A tripeptide 'anticodon' deciphers stop codons in messenger RNA. Nature (2000) 2.90
Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q. Lancet (1993) 2.88
Molecular architecture of membranes involved in excitation-contraction coupling of cardiac muscle. J Cell Biol (1995) 2.88
Bilirubin, formed by activation of heme oxygenase-2, protects neurons against oxidative stress injury. Proc Natl Acad Sci U S A (1999) 2.84
Search for a resonance decaying into WZ boson pairs in pp collisions. Phys Rev Lett (2010) 2.83
Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene. Cell (1995) 2.81
A mapped set of genetic markers for human chromosome 9. Genomics (1988) 2.80
An Epstein-Barr virus-producer line Akata: establishment of the cell line and analysis of viral DNA. Virus Genes (1991) 2.77
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet (1990) 2.77
The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science (1993) 2.77
Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet (1998) 2.77
Experimental investigation of geologically produced antineutrinos with KamLAND. Nature (2005) 2.75
Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res (1992) 2.72
A primary genetic linkage map for human chromosome 12. Genomics (1987) 2.72
Requirement of CD9 on the egg plasma membrane for fertilization. Science (2000) 2.65
Enhanced expression of a glyceraldehyde-3-phosphate dehydrogenase gene in human lung cancers. Cancer Res (1987) 2.65
Complete structure of the chloroplast genome of Arabidopsis thaliana. DNA Res (1999) 2.63
Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat (1993) 2.63
A new mutation, aly, that induces a generalized lack of lymph nodes accompanied by immunodeficiency in mice. Eur J Immunol (1994) 2.62
Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon 2 subunit mutant mice. Neuron (1996) 2.62
An adipocyte-derived plasma protein, adiponectin, adheres to injured vascular walls. Horm Metab Res (2000) 2.59
Seroepidemiology of human herpesvirus 6 infection in normal children and adults. J Clin Microbiol (1989) 2.58
Allelotype of breast cancer: cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res (1990) 2.57
Extracellular ATP or ADP induce chemotaxis of cultured microglia through Gi/o-coupled P2Y receptors. J Neurosci (2001) 2.54
A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet (1999) 2.54
Kinetic and equilibrium characterization of the Tet repressor-tetracycline complex by fluorescence measurements. Evidence for divalent metal ion requirement and energy transfer. J Mol Biol (1986) 2.52
Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association a T924C polymorphism in the thromboxane A2 receptor gene. Hum Genet (2000) 2.50
ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol (1987) 2.48
p53DINP1, a p53-inducible gene, regulates p53-dependent apoptosis. Mol Cell (2001) 2.47
Mutations in the rpoB gene of rifampin-resistant Mycobacterium tuberculosis strains isolated mostly in Asian countries and their rapid detection by line probe assay. J Clin Microbiol (1999) 2.46
Fractures of the coracoid process. J Bone Joint Surg Br (1997) 2.45
Helium-3 emission related to volcanic activity. Science (1984) 2.43
Activation of the beta-catenin gene in primary hepatocellular carcinomas by somatic alterations involving exon 3. Cancer Res (1998) 2.42
Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer. Proc Natl Acad Sci U S A (2000) 2.38
Musashi1: an evolutionally conserved marker for CNS progenitor cells including neural stem cells. Dev Neurosci (2000) 2.36
Single-photon emission computed tomographic investigation of patients with motor neuron disease. Neurology (1993) 2.36
Mutation in pncA is a major mechanism of pyrazinamide resistance in Mycobacterium tuberculosis. Tuber Lung Dis (1997) 2.34
A large scale analysis of cDNA in Arabidopsis thaliana: generation of 12,028 non-redundant expressed sequence tags from normalized and size-selected cDNA libraries. DNA Res (2000) 2.33