Published in J Child Neurol on February 01, 2000
Monitoring of serum enzymes in sport. Br J Sports Med (2006) 0.91
Single-fiber electromyography in hyperCKemia: the value of fiber density. Neurol Sci (2011) 0.79
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
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology (2006) 4.11
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
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science (1989) 3.02
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
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
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
The genetics and pathology of oxidative phosphorylation. Nat Rev Genet (2001) 2.48
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 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
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
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
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
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet (1991) 2.10
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
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
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology (2007) 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
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
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. Neurology (2005) 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
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology (2005) 1.80
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. Gene (1987) 1.76
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology (2008) 1.74
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A (2001) 1.69
Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs. Neurology (2009) 1.65
The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology (2004) 1.63
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology (1997) 1.58
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
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Neuropediatrics (2007) 1.53
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol (1993) 1.53
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
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
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr (1982) 1.46
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci (2007) 1.44
Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve (1994) 1.44
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A (2008) 1.44
Epilepsia partialis continua and neuronal migration anomalies. Brain Dev (1992) 1.44
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology (2001) 1.43
Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital (2006) 1.42
Severe cardiopathy in branching enzyme deficiency. J Pediatr (1987) 1.41
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim Biophys Acta (1992) 1.40
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet (1990) 1.40
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) Neurology (1993) 1.39
An adult-onset myopathy characterized by a double ring appearance of muscle fibers. Neuromuscul Disord (1991) 1.38
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord (1993) 1.38
Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse. Muscle Nerve (1994) 1.37
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
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet (1999) 1.36
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet (1996) 1.36
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology (1999) 1.33
Adult-onset acid maltase deficiency: a postmortem study. Muscle Nerve (1979) 1.33
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation. J Inherit Metab Dis (1999) 1.33
Subunit Va of human and bovine cytochrome c oxidase is highly conserved. Gene (1988) 1.33
Coenzyme Q10 deficiency and isolated myopathy. Neurology (2006) 1.32
Residual acid maltase activity in late-onset acid maltase deficiency. Neurology (1977) 1.31
Nervous system in Pompe's disease. Ultrastructure and biochemistry. J Neuropathol Exp Neurol (1971) 1.31
Recurrent childhood myoglobinuria. Adv Pediatr (1990) 1.31
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet (2001) 1.30
Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology (2001) 1.29
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med (1993) 1.28
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat (2008) 1.27
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology (2004) 1.26
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology (1980) 1.25
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology (1985) 1.25