Published in Am J Hum Genet on January 01, 1994
Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res (2003) 1.66
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am J Hum Genet (1994) 0.97
McArdle disease: molecular genetic update. Acta Myol (2007) 0.88
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. J Med Genet (1997) 0.77
McArdle Disease and Exercise Physiology. Biology (Basel) (2014) 0.76
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease. Genet Med (2016) 0.75
Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature (1970) 1528.65
Organization and expression of eucaryotic split genes coding for proteins. Annu Rev Biochem (1981) 49.46
A catalogue of splice junction sequences. Nucleic Acids Res (1982) 39.41
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Ribonucleic acid isolated by cesium chloride centrifugation. Biochemistry (1974) 19.75
Pre-mRNA splicing. Annu Rev Genet (1986) 9.86
Splicing of messenger RNA precursors. Science (1987) 7.61
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A (1989) 2.97
A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. Proc Natl Acad Sci U S A (1959) 2.24
Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest (1959) 2.14
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet (1991) 1.88
High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science (1984) 1.80
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics (1991) 1.57
Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins (1987) 1.42
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest (1991) 1.32
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med (1993) 1.28
The structure of glycogen phosphorylase alpha at 2.5 A resolution. J Mol Biol (1979) 1.13
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. J Biol Chem (1987) 1.12
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J Clin Invest (1989) 1.08
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet (1993) 1.07
Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. J Biol Chem (1990) 1.05
Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. J Biol Chem (1989) 1.05
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem (1993) 1.00
Identification of a tissue-specific regulatory element within the human muscle glycogen phosphorylase gene. J Biol Chem (1991) 0.93
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. J Inherit Metab Dis (1991) 0.89
In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. Am J Hum Genet (1989) 0.89
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. Proc Natl Acad Sci U S A (1990) 0.88
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. Genomics (1990) 0.83
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature (1990) 7.89
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
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
Myogenin gene disruption results in perinatal lethality because of severe muscle defect. Nature (1993) 4.33
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology (1988) 4.28
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology (2006) 4.11
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature (1998) 3.86
Mitochondrial myopathies. Ann Neurol (1985) 3.81
Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nat Med (2001) 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
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (1995) 3.66
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med (1989) 3.32
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature (1988) 3.25
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet (2000) 3.06
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science (1989) 3.02
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A (1991) 3.00
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci U S A (1992) 2.82
Inclusion body myositis and myopathies. Ann Neurol (1995) 2.68
Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet (1998) 2.66
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology (2002) 2.66
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr (1997) 2.54
Risk of seizures and encephalopathy after immunization with the diphtheria-tetanus-pertussis vaccine. JAMA (1990) 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
Activin-binding protein from rat ovary is follistatin. Science (1990) 2.38
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet (1993) 2.33
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res (1990) 2.28
Neurological complications of immunization. Ann Neurol (1982) 2.25
Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med (1986) 2.22
Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med (1989) 2.19
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 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
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 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
Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06
Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology (1990) 1.97
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
Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome? Ann Neurol (1977) 1.90
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology (2005) 1.90
Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (1989) 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
Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria. Arch Neurol (1989) 1.88
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci (1981) 1.86
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology (1992) 1.85
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
Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol (1999) 1.81
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
The relationship of complement-mediated microvasculopathy to the histologic features and clinical duration of disease in dermatomyositis. Arch Neurol (1991) 1.81
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology (2005) 1.80
Rho-kinase is involved in macrophage-mediated formation of coronary vascular lesions in pigs in vivo. Arterioscler Thromb Vasc Biol (2000) 1.79
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
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. Gene (1987) 1.76
alpha1-syntrophin gene disruption results in the absence of neuronal-type nitric-oxide synthase at the sarcolemma but does not induce muscle degeneration. J Biol Chem (1999) 1.75
Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months) Neurology (1993) 1.75
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci (1997) 1.68
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet (1993) 1.67
Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Lett (1997) 1.67
Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol (1989) 1.66
The natural history of acute confusional migraine. Arch Neurol (1978) 1.66
Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) J Neurol Sci (1994) 1.65
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet (2001) 1.63
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology (2005) 1.63
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology (2008) 1.63
Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology (1999) 1.62
Toxic polyneuropathy due to methyl n-butyl ketone. An industrial outbreak. Arch Neurol (1975) 1.62
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology (1991) 1.59