PubRank

E A Schon

Author PubWeight™ 131.06‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Transcription of the beta-like globin genes and pseudogenes of the goat in a cell-free system. Nucleic Acids Res 1981 6.63
2 Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988 4.28
3 Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 1992 2.83
4 Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999 2.59
5 mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991 2.53
6 Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990 2.28
7 Mitochondrial DNA mutations in human disease. Am J Med Genet 2001 2.21
8 Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet 1994 2.16
9 Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet 1991 2.10
10 The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992 1.94
11 Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci U S A 1989 1.88
12 Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. Gene 1987 1.76
13 Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995 1.63
14 A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. J Biol Chem 1989 1.54
15 Germ-line therapy to cure mitochondrial disease: protocol and ethics of in vitro ovum nuclear transplantation. Camb Q Healthc Ethics 1995 1.54
16 Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun 1989 1.52
17 Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest 1993 1.48
18 Gene conversion of two functional goat alpha-globin genes preserves only minimal flanking sequences. J Biol Chem 1982 1.43
19 Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim Biophys Acta 1992 1.40
20 Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet 1990 1.40
21 Structure and evolution of goat gamma-, beta C- and beta A-globin genes: three developmentally regulated genes contain inserted elements. Cell 1981 1.38
22 Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993 1.38
23 Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc Natl Acad Sci U S A 1997 1.36
24 Mitochondria. J Neurol Neurosurg Psychiatry 2003 1.36
25 A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency. Nat Med 1999 1.35
26 Subunit Va of human and bovine cytochrome c oxidase is highly conserved. Gene 1988 1.33
27 Evidence for the presence of 5S rRNA in mammalian mitochondria. Mol Biol Cell 1998 1.32
28 The retinal pigment epithelium is the unique site of transthyretin synthesis in the rat eye. Invest Ophthalmol Vis Sci 1990 1.27
29 Clinical manifestations of mitochondrial DNA depletion. Neurology 1998 1.22
30 Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat. J Biol Chem 1985 1.22
31 Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell 2000 1.21
32 Nuclear power and mitochondrial disease. Nat Genet 1998 1.21
33 The isolation of the beta A-, beta C-, and gamma-globin genes and a presumptive embryonic globin gene from a goat DNA recombinant library. J Biol Chem 1980 1.21
34 Clinical syndromes associated with ragged red fibers. Rev Neurol (Paris) 1991 1.20
35 Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nat Genet 1992 1.18
36 Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991 1.16
37 A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet 1993 1.15
38 Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach. Neurology 1991 1.15
39 Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 1994 1.15
40 Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep. Nat Genet 1999 1.14
41 Nucleotide sequence of a cDNA for bovine cytochrome c oxidase subunit VIIc. Nucleic Acids Res 1989 1.14
42 Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem 1987 1.12
43 Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 1996 1.12
44 Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. J Biol Chem 1988 1.12
45 Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. Mol Biol Cell 2000 1.11
46 Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase. Nucleic Acids Res 1990 1.09
47 An algorithm based on graph theory for the assembly of contigs in physical mapping of DNA. Comput Appl Biosci 1994 1.08
48 Two related pseudogenes are the result of a gene duplication in the goat beta-globin locus. Cell 1981 1.07
49 Sequence and linkage of the goat epsilon I and epsilon II beta-globin genes. J Mol Biol 1983 1.07
50 Mitochondrial myopathies. J Inherit Metab Dis 1987 1.06
51 Mitochondrial involvement in Alzheimer's disease. Biochim Biophys Acta 1999 1.05
52 Identification by nucleotide sequence analysis of a goat pseudoglobin gene. Nucleic Acids Res 1980 1.04
53 A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995 1.04
54 Widespread expression of amyloid beta-protein precursor gene in rat brain. Am J Pathol 1989 1.03
55 Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998 1.02
56 Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am J Hum Genet 1996 1.02
57 In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Mol Cell Biol 1995 1.02
58 Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 1999 1.02
59 A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994 1.00
60 Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. Nucleic Acids Res 1989 1.00
61 Mitochondria in neuromuscular disorders. Biochim Biophys Acta 1998 0.98
62 Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region. Mol Cell Biol 1991 0.98
63 Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. Nucleic Acids Res 1993 0.97
64 Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions. Muscle Nerve Suppl 1995 0.97
65 Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. J Neurol Sci 2000 0.95
66 Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol 1996 0.92
67 Cytochrome c oxidase deficiency. Pediatr Res 1990 0.92
68 Distribution of transthyretin in the rat eye. Invest Ophthalmol Vis Sci 1990 0.92
69 A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. J Biol Chem 2000 0.92
70 Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem 1989 0.91
71 Cytochrome oxidase deficiency: clinical and biochemical heterogeneity. Ann N Y Acad Sci 1986 0.90
72 Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 1991 0.90
73 Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. Gene 1992 0.90
74 Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochim Biophys Acta 1996 0.90
75 Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase. Gene 1988 0.89
76 Transthyretin is synthesized in the mammalian eye. Biochem Biophys Res Commun 1988 0.89
77 Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease. Biochem Biophys Res Commun 1992 0.89
78 Nonidentical distribution of transferrin and ferric iron in human brain. Neuroscience 1988 0.88
79 High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy. Neurology 1995 0.88
80 Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? Ann Neurol 1997 0.88
81 Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA. J Neurol Sci 1992 0.87
82 Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988. Neurology 1998 0.87
83 Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. Hum Mutat 1996 0.87
84 The fate of human sperm-derived mtDNA in somatic cells. Am J Hum Genet 1997 0.86
85 High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 1997 0.86
86 Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. Nucleic Acids Res 1989 0.85
87 Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann Neurol 1999 0.85
88 Mitochondrial encephalomyopathies: therapeutic approaches. Neurol Sci 2000 0.83
89 Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction. Muscle Nerve 1998 0.83
90 Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene. Muscle Nerve Suppl 1995 0.82
91 A cDNA specifying the human amyloid beta precursor protein (ABPP) encodes a 95-kDa polypeptide. Nucleic Acids Res 1988 0.82
92 Retinol-binding protein is synthesized in the mammalian eye. Biochem Biophys Res Commun 1988 0.82
93 RNA-binding patterns in total human tissue proteins: analysis by northwestern blotting. Biochem Biophys Res Commun 1993 0.82
94 Metabolic myopathies. Am J Med Genet 1986 0.82
95 Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 1992 0.81
96 Immunocytochemical study of nebulin in Duchenne muscular dystrophy. Neurology 1988 0.81
97 Differential expression of nuclear genes for cytochrome c oxidase during myogenesis. Muscle Nerve 1990 0.80
98 Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start? Brain Pathol 2000 0.79
99 Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism. Mol Cell Biochem 1997 0.79
100 Cybrids in Alzheimer's disease: a cellular model of the disease? Neurology 1998 0.78
101 Mitochondrial encephalomyopathies: biochemical approach. Rev Neurol (Paris) 1991 0.78
102 tRNA processing in human mitochondrial disorders. Mol Biol Rep 1997 0.78
103 Biochemical and molecular aspects of cytochrome C oxidase deficiency. Adv Neurol 1988 0.77
104 Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase. Biochim Biophys Acta 1993 0.77
105 Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain. Brain Pathol 1995 0.76
106 Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet 2000 0.76
107 Both heavy strand replication origins are active in partially duplicated human mitochondrial DNAs. Biochem Biophys Res Commun 2001 0.76
108 Loss of ROS--a radical response. Nat Genet 1998 0.75
109 Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations. Ann Neurol 1998 0.75
110 Mitochondrial dysfunction as a mechanism of CNS injury. Res Publ Assoc Res Nerv Ment Dis 1993 0.75
111 Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies. J Neurol Sci 1991 0.75
112 Mitochondrial encephalomyopathies. Prog Clin Biol Res 1989 0.75
113 Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. Neuromuscul Disord 1997 0.75
114 Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. Biochim Biophys Acta 1995 0.75
115 Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? Am J Med Genet 1991 0.75