Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro.

PubWeight™: 0.81‹?›

🔗 View Article (PMID 10522901)

Published in Neurology on October 12, 1999

Authors

G Pari1, M M Crerar, J Nalbantoglu, E Shoubridge, A Jani, S Tsujino, S Shanske, S DiMauro, J M Howell, G Karpati

Author Affiliations

1: Neuromuscular Research Group, Montreal Neurological Institute, McGill University, Quebec, Canada.

Articles by these authors

Direct gene transfer into mouse muscle in vivo. Science (1990) 10.39

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature (2000) 5.71

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol (1984) 5.21

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med (1989) 4.87

Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology (1988) 4.28

A multiple screening clinic. Br Med J (1965) 4.14

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology (2006) 4.11

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85

Mitochondrial myopathies. Ann Neurol (1985) 3.81

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med (1999) 3.76

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature (1989) 3.75

Urine NGAL and IL-18 are predictive biomarkers for delayed graft function following kidney transplantation. Am J Transplant (2006) 3.58

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57

Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (1991) 3.03

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science (1989) 3.02

Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle. Hum Mol Genet (1992) 2.72

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet (2001) 2.71

Inclusion body myositis and myopathies. Ann Neurol (1995) 2.68

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59

Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr (1997) 2.54

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet (1991) 2.53

MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48

The genetics and pathology of oxidative phosphorylation. Nat Rev Genet (2001) 2.48

Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study. Muscle Nerve (1990) 2.41

The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. Gene Ther (1995) 2.39

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res (1990) 2.28

Spontaneous deletion formation at the aprt locus of hamster cells: the presence of short sequence homologies and dyad symmetries at deletion termini. EMBO J (1986) 2.20

Structure of a family of rat amylase genes. Nature (1980) 2.19

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet (1992) 2.17

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

Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord (1992) 2.15

Lysosomal glycogen storage disease with normal acid maltase. Neurology (1981) 2.13

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology (2006) 2.11

Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet (1991) 2.10

Myoblast transfer in Duchenne muscular dystrophy. Ann Neurol (1993) 2.08

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain (1980) 2.08

Cellular isoform of the scrapie agent protein participates in lymphocyte activation. Cell (1990) 2.06

Late-onset mitochondrial myopathy. Ann Neurol (1995) 1.98

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology (1990) 1.97

Infrared emission detection tympanic thermometry may be useful in diagnosing acute otitis media. Am J Emerg Med (1995) 1.96

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

Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science (1973) 1.93

Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. Proc Natl Acad Sci U S A (1995) 1.91

Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann Neurol (1977) 1.90

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell (1990) 1.90

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology (2005) 1.90

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

Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology (2004) 1.83

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol (1983) 1.82

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology (2005) 1.80

Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions. J Neurol Sci (1990) 1.78

Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. Gene (1987) 1.76

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75

Direct gene transfer and expression into rat heart in vivo. New Biol (1991) 1.75

Emergence of early region 1-containing replication-competent adenovirus in stocks of replication-defective adenovirus recombinants (delta E1 + delta E3) during multiple passages in 293 cells. Hum Gene Ther (1994) 1.74

Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics (1997) 1.70

Alzheimer's disease: current knowledge, management and research. CMAJ (1997) 1.66

Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology (1978) 1.65

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron (1996) 1.58

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology (1997) 1.58

Glucagon therapy in the treatment of symptomatic bradycardia. Ann Emerg Med (1997) 1.56

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

Dystrophin-deficient cardiomyocytes are abnormally vulnerable to mechanical stress-induced contractile failure and injury. FASEB J (2001) 1.54

Experimental chronic copper toxicity in sheep. Histological and histochemical changes during the development of the lesions in the liver. Res Vet Sci (1971) 1.53

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol (1993) 1.53

Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol (1997) 1.53

Injection of a recombinant AAV serotype 2 into canine skeletal muscles evokes strong immune responses against transgene products. Gene Ther (2007) 1.52

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun (1989) 1.52

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet (1999) 1.52

Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology (1972) 1.51

Clinicopathological features of genetically confirmed Danon disease. Neurology (2002) 1.51

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet (1994) 1.49

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

Acute beta blocker overdose: factors associated with the development of cardiovascular morbidity. J Toxicol Clin Toxicol (2000) 1.48

Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. Arch Neurol (1968) 1.47

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr (1982) 1.46

Conditions affecting direct gene transfer into rodent muscle in vivo. Biotechniques (1991) 1.46

"Type grouping" in skeletal muscles after experimental reinnervation. Neurology (1968) 1.46

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45

Structure of mutant alleles at the aprt locus of Chinese hamster ovary cells. J Mol Biol (1983) 1.45

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve (1994) 1.44

Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain (1979) 1.44