Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations.

PubWeight™: 0.87‹?›

🔗 View Article (PMID 2648185)

Published in Neurology on April 01, 1989

Authors

R Medori1, M H Brooke, R H Waterston

Author Affiliations

1: Department of Neurology/Neurosurgery, Washington University, St. Louis, MO.

Articles by these authors

(truncated to the top 100)

Initial sequencing and analysis of the human genome. Nature (2001) 212.86

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature (2001) 42.18

A physical map of the human genome. Nature (2001) 12.39

Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map. Nat Genet (2001) 9.54

High throughput fingerprint analysis of large-insert clones. Genome Res (1997) 6.91

Muscle fiber types: how many and what kind? Arch Neurol (1970) 5.51

A genetic mapping system in Caenorhabditis elegans based on polymorphic sequence-tagged sites. Genetics (1992) 5.37

A mutant affecting the heavy chain of myosin in Caenorhabditis elegans. J Mol Biol (1974) 5.33

Mutants with altered muscle structure of Caenorhabditis elegans. Dev Biol (1980) 5.03

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet (2001) 4.24

Surveying Saccharomyces genomes to identify functional elements by comparative DNA sequence analysis. Genome Res (2001) 4.22

A second informational suppressor, SUP-7 X, in Caenorhabditis elegans. Genetics (1981) 4.04

Three "myosin adenosine triphosphatase" systems: the nature of their pH lability and sulfhydryl dependence. J Histochem Cytochem (1970) 3.77

Sequence of an unusually large protein implicated in regulation of myosin activity in C. elegans. Nature (1989) 3.49

Movement of cortical actin patches in yeast. J Cell Biol (1996) 3.40

Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med (1989) 3.32

The genes sup-7 X and sup-5 III of C. elegans suppress amber nonsense mutations via altered transfer RNA. Cell (1983) 3.26

Genes critical for muscle development and function in Caenorhabditis elegans identified through lethal mutations. J Cell Biol (1994) 3.25

The basal component of the nematode dense-body is vinculin. J Biol Chem (1989) 3.06

Muscle organization in Caenorhabditis elegans: localization of proteins implicated in thin filament attachment and I-band organization. J Cell Biol (1985) 2.96

The histographic analysis of human muscle biopsies with regard to fiber types. 1. Adult male and female. Neurology (1969) 2.94

Mutants affecting paramyosin in Caenorhabditis elegans. J Mol Biol (1977) 2.78

Identification of the structural gene for a myosin heavy-chain in Caenorhabditis elegans. J Mol Biol (1977) 2.78

Muscle cell attachment in Caenorhabditis elegans. J Cell Biol (1991) 2.65

Molecular cloning of the muscle gene unc-22 in Caenorhabditis elegans by Tc1 transposon tagging. Proc Natl Acad Sci U S A (1986) 2.56

Interaction between a putative mechanosensory membrane channel and a collagen. Science (1996) 2.52

Proper expression of myosin genes in transgenic nematodes. EMBO J (1989) 2.50

A suppressor mutation in the nematode acting on specific alleles of many genes. Nature (1978) 2.50

Vinculin is essential for muscle function in the nematode. J Cell Biol (1991) 2.49

Sequence analysis of mutations that affect the synthesis, assembly and enzymatic activity of the unc-54 myosin heavy chain of Caenorhabditis elegans. J Mol Biol (1985) 2.29

Assembly of body wall muscle and muscle cell attachment structures in Caenorhabditis elegans. J Cell Biol (1994) 2.26

Spontaneous unstable unc-22 IV mutations in C. elegans var. Bergerac. Genetics (1984) 2.24

Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06

Paramyosin of Caenorhabditis elegans. J Mol Biol (1974) 2.01

Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99

The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology (1969) 1.93

Identification and intracellular localization of the unc-22 gene product of Caenorhabditis elegans. Genes Dev (1988) 1.91

Analysis of a mutator activity necessary for germline transposition and excision of Tc1 transposable elements in Caenorhabditis elegans. Genetics (1988) 1.90

Cloning, sequencing, and mapping of an alpha-actinin gene from the nematode Caenorhabditis elegans. Cell Motil Cytoskeleton (1991) 1.83

Mutations in the unc-54 myosin heavy chain gene of Caenorhabditis elegans that alter contractility but not muscle structure. Cell (1982) 1.83

The sup-7(st5) X gene of Caenorhabditis elegans encodes a tRNATrpUAG amber suppressor. Proc Natl Acad Sci U S A (1984) 1.80

Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol (1991) 1.78

Representation of cloned genomic sequences in two sequencing vectors: correlation of DNA sequence and subclone distribution. Nucleic Acids Res (1997) 1.78

Dominant mutations affecting muscle structure in Caenorhabditis elegans that map near the actin gene cluster. J Mol Biol (1984) 1.76

Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months) Neurology (1993) 1.75

Lorist6, a cosmid vector with BamHI, NotI, ScaI and HindIII cloning sites and altered neomycin phosphotransferase gene expression. Gene (1987) 1.75

The nematode Caenorhabditis elegans and its genome. Science (1995) 1.73

Transient localized accumulation of actin in Caenorhabditis elegans blastomeres with oriented asymmetric divisions. Development (1994) 1.70

The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron. Neurology (1969) 1.64

Some comments on the histochemical characterization of muscle adenosine triphosphatase. J Histochem Cytochem (1969) 1.63

A physical map of the human Y chromosome. Nature (2001) 1.58

The human genome project. Prospects and implications for clinical medicine. JAMA (1991) 1.49

Histochemical studies of denervated or tenotomized cat muscle: illustrating difficulties in relating experimental animal conditions to human neuromuscular diseases. Ann N Y Acad Sci (1966) 1.48

The unc-45 gene of Caenorhabditis elegans is an essential muscle-affecting gene with maternal expression. Genetics (1990) 1.48

Transposable element Tc1 of Caenorhabditis elegans recognizes specific target sequences for integration. Proc Natl Acad Sci U S A (1988) 1.44

Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology (1991) 1.40

DNA rearrangements of the actin gene cluster in Caenorhabditis elegans accompany reversion of three muscle mutants. J Mol Biol (1984) 1.40

Transposon-induced deletions in unc-22 of C. elegans associated with almost normal gene activity. Nature (1988) 1.40

An internal deletion mutant of a myosin heavy chain in Caenorhabditis elegans. Proc Natl Acad Sci U S A (1977) 1.39

Expressed sequence tags--ESTablishing bridges between genomes. Trends Genet (1998) 1.38

Genetic fine structure analysis of the myosin heavy chain gene unc-54 of Caenorhabditis elegans. J Mol Biol (1982) 1.33

Myotactin, a novel hypodermal protein involved in muscle-cell adhesion in Caenorhabditis elegans. J Cell Biol (1999) 1.30

The histographic analysis of human muscle biopsies with regard to fiber types. 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis. Neurology (1969) 1.29

Differential expression of five tRNA(UAGTrp) amber suppressors in Caenorhabditis elegans. Mol Cell Biol (1988) 1.26

Reducing body myopathy. Neurology (1972) 1.26

Talin requires beta-integrin, but not vinculin, for its assembly into focal adhesion-like structures in the nematode Caenorhabditis elegans. Mol Biol Cell (1996) 1.25

Increased serum creatine kinase after exercise: a sex-linked phenomenon. Neurology (1979) 1.21

Hydrophobicity variations along the surface of the coiled-coil rod may mediate striated muscle myosin assembly in Caenorhabditis elegans. J Cell Biol (1996) 1.20

Progress in sequencing the mouse genome. Genesis (2001) 1.20

Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci U S A (2000) 1.19

Antigen competition: a paradox. Science (1970) 1.18

The alpha and beta subunits of nematode actin capping protein function in yeast. Mol Biol Cell (1993) 1.18

The Caenorhabditis elegans muscle-affecting gene unc-87 encodes a novel thin filament-associated protein. J Cell Biol (1994) 1.17

High-throughput plasmid DNA purification for 3 cents per sample. Nucleic Acids Res (1999) 1.17

A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. Arch Neurol (1991) 1.16

Genetic and molecular analysis of eight tRNA(Trp) amber suppressors in Caenorhabditis elegans. J Mol Biol (1990) 1.15

Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of prednisone. Arch Neurol (1987) 1.14

Low pressure DNA shearing: a method for random DNA sequence analysis. Nucleic Acids Res (1990) 1.13

Muscle pathology in rheumatoid arthritis, polymyalgia rheumatica, and polymyositis: a histochemical study. Arch Pathol (1972) 1.12

Interstrain crosses enhance excision of Tc1 transposable elements in Caenorhabditis elegans. Mol Gen Genet (1990) 1.09

Actin-related protein nomenclature and classification. J Cell Biol (1994) 1.09

Genomic structure of a cytoplasmic dynein heavy chain gene from the nematode Caenorhabditis elegans. Cell Motil Cytoskeleton (1995) 1.08

The construction and analysis of M13 libraries prepared from YAC DNA. Nucleic Acids Res (1995) 1.07

Activity, creatine kinase, and myoglobin in Duchenne muscular dystrophy: a clue to etiology? Neurology (1985) 1.06

Myoadenylate deaminase deficiency. Muscle Nerve (1980) 1.06

Trophic functions of the neuron. II. Denervation and regulation of muscle. The use and abuse of muscle histochemistry. Ann N Y Acad Sci (1974) 1.02

Germline excision of the transposable element Tc1 in C. elegans. Nucleic Acids Res (1991) 1.02

Clinical investigation of Duchenne muscular dystrophy. A methodology for therapeutic trials based on natural history controls. Arch Neurol (1987) 1.02

Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities. Arch Neurol (1974) 1.01

Exercise hyperventilation in patients with McArdle's disease. J Appl Physiol Respir Environ Exerc Physiol (1982) 1.01

The histologic diagnosis of neuromuscular diseases: a review of 79 biopsies. Arch Phys Med Rehabil (1966) 1.01

The prolonged exercise test. Neurology (1979) 1.01

Molecular profiling of clinical tissue specimens: feasibility and applications. Am J Pathol (2000) 1.00

Molecular profiling of clinical tissues specimens: feasibility and applications. J Mol Diagn (2000) 0.98

Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve (1985) 0.98

Soluble antigen from sheep erythrocytes: preparation and antigenic properties. Immunology (1970) 0.97

The yeast cloning vector YEp13 contains a tRNALeu3 gene that can mutate to an amber suppressor. Gene (1984) 0.96

The behavior of four fiber types in developing and reinnervated muscle. Arch Neurol (1971) 0.96

Depressed ventilatory response in oculocraniosomatic neuromuscular disease. Neurology (1976) 0.95

Contractile, biochemical, and histochemical properties of thyrotoxic rat soleus muscle. Am J Physiol (1980) 0.95