Published in Clin Chim Acta on August 01, 1972
Specificity of serum creatine kinase isoenzymes in diagnosis of acute myocardial infarction. Br Med J (1973) 1.12
Brain creatine kinase in blood after acute brain injury. J Neurol Neurosurg Psychiatry (1975) 1.10
Lability of human creatine kinase isoenzymes at 37 degrees C: a complication of electrophoretic separation. J Clin Pathol (1975) 0.98
Heart type creatine kinase isoenzyme (CK MB) in acute cerebral disorders. Br Heart J (1978) 0.96
Serum creatine kinase B subunit activity in diagnosis of acute myocardial infarction. Br Heart J (1980) 0.82
Kinetic properties of the isoenzymes of human creatine phosphokinase. Proc Natl Acad Sci U S A (1974) 0.78
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09
Muscle-eye-brain disease (MEB) Brain Dev (1989) 2.00
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Celiac disease, brain atrophy, and dementia. Neurology (1991) 1.69
Diagnostic value of cerebrospinal fluid adenosine deaminase determination. Scand J Infect Dis (1991) 1.52
Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev (1995) 1.44
Progressive unilateral hypertrophic myopathy: a case study. Muscle Nerve (1993) 1.39
An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet (1995) 1.36
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest (1992) 1.30
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein. Biochem Biophys Res Commun (1990) 1.25
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology (1997) 1.23
Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet (1998) 1.17
Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am J Pathol (1990) 1.16
Specificity of serum creatine kinase isoenzymes in diagnosis of acute myocardial infarction. Br Med J (1973) 1.12
Muscle-eye-brain disease: a neuropathological study. Ann Neurol (1997) 1.12
Brain creatine kinase in blood after acute brain injury. J Neurol Neurosurg Psychiatry (1975) 1.10
Neurological outcome after out-of-hospital cardiac arrest. Prediction by cerebrospinal fluid enzyme analysis. Arch Neurol (1989) 1.10
Determination of serum creatine kinase isoenzymes in myocardial infarction. Am J Cardiol (1972) 1.09
Origin of elevated serum enzyme activities after direct-current countershock. N Engl J Med (1969) 1.06
Oral contraceptives after liver disease. Br Med J (1971) 1.05
Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve (1991) 1.02
Serum concentrations of collagen degrading enzymes and their inhibitors after downhill running. Scand J Med Sci Sports (2001) 1.01
Value of quinidine in maintenance of sinus rhythm after electric conversion of atrial fibrillation. Br Heart J (1970) 0.99
Low prevalence of Huntington's disease in Finland. Lancet (1987) 0.99
Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromuscul Disord (2001) 0.98
Disopyramide in the prevention of recurrence of atrial fibrillation after electroconversion. Clin Pharmacol Ther (1974) 0.97
Neuronal intranuclear inclusion disease in identical twins. Ann Neurol (1984) 0.96
Heart type creatine kinase isoenzyme (CK MB) in acute cerebral disorders. Br Heart J (1978) 0.96
Muscle-eye-brain disease and Walker-Warburg syndrome. Am J Med Genet (1990) 0.95
Microangiopathy with encephalopathy, hearing loss and retinal arteriolar occlusions: two new cases. J Neurol Sci (1988) 0.95
Metabolic causes of recurrent rhabdomyolysis. Acta Neurol Scand (1998) 0.95
Angiotensin converting enzyme in cerebrospinal fluid: a new assay. Neurology (1985) 0.94
Brain-type creatine kinase isoenzyme. Occurrence in serum in acute cerebral disorders. Arch Neurol (1977) 0.94
Congenital muscular dystrophy: a clinico-pathological and follow-up study of 15 patients. Neuropadiatrie (1975) 0.94
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet (1992) 0.93
Multiple serum enzyme analyses in chronic alcoholics. Acta Med Scand (1970) 0.92
Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. J Neurol Sci (1992) 0.91
A method allowing the quantitation of serum creatine kinase isoenzymes. Clin Chim Acta (1972) 0.90
Studies on N-aspartyl-beta-glucosaminidase in aspartylglycosaminuria. Clin Chim Acta (1975) 0.90
A further simplified method of ornithine carbomoyltransferase measurement. Clin Chim Acta (1968) 0.89
Axial myopathy--an unrecognised entity. J Neurol (2002) 0.88
Linkage disequilibrium detected between dystrophia myotonica and APOC2 locus in the Finnish population. Hum Genet (1990) 0.87
Creatine kinase isoenzymes in neuromuscular diseases. J Neurol Sci (1976) 0.87
Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet (1990) 0.86
Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. Clin Genet (1985) 0.86
Composition of pericardial fluid in cholesterol pericarditis. Acta Med Scand (1972) 0.85
Creatine kinase isoenzymes in acute brain injury. J Neurosurg (1981) 0.85
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). J Neurol Sci (1997) 0.84
A serum isozyme study in muscular dystrophy. Particular reference to creatine kinase, aspartate aminotransferase, and lactic acid dehydrogenase isozymes. Arch Neurol (1973) 0.83
ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease. Neuromuscul Disord (2001) 0.83
Alpha fetoprotein: structure and expression in man and inbred mouse strains under normal conditions and liver injury. Johns Hopkins Med J Suppl (1974) 0.83
MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology (1994) 0.82
Cardiovascular study of 100 chronic alcoholics. Acta Med Scand (1969) 0.82
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. Arch Dis Child (1992) 0.82
Assay of cardiac lactate dehydrogenase iso-enzymes by means of urea. Acta Med Scand (1967) 0.82
Cerebrospinal fluid lysozyme and beta 2-microglobulin in neurosarcoidosis. J Neurol Sci (1986) 0.82
Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology. Acta Ophthalmol (Copenh) (1986) 0.81
A new cause of increased serum aspartate aminotransferase activity. Clin Chim Acta (1978) 0.80
A distinct phenotype of distal myopathy in a large Finnish family. Neurology (2003) 0.80
Serum enzymes and isozymes. Extrapulmonary sources in acute pulmonary embolism. Arch Intern Med (1974) 0.80
Three different pathogenic mechanisms for paraparesis in association with bacterial infections. Ann Clin Res (1986) 0.80
Capillary circulation and morphology in Duchenne muscular dystrophy. Eur Neurol (1979) 0.79
Recurrent attacks of abdominal pain and fever with familial segmentation arrest of granulocytes. Blood (1974) 0.79
[Endocarditis and aortic valve insufficiency caused by ornithosis]. Duodecim (1978) 0.79
Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. Neuromuscul Disord (1998) 0.79
Nothing dehydrogenase reaction as an artefact in serum isoenzyme analyses. Clin Chim Acta (1975) 0.79
Mitochondrial aspartate aminotransferase in myocardial infarction. Clin Chim Acta (1973) 0.78
Imaging methods reveal unexpected patchy lesions in late onset distal myopathy. Neuromuscul Disord (1991) 0.78
Novel splice site CACNA1A mutation causing episodic ataxia type 2. Neurogenetics (2003) 0.78
Denaturation of lactic dehydrogenase isozymes and its clinical application. Nature (1965) 0.78
Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease. Neuromuscul Disord (2000) 0.78
[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics]. Duodecim (1985) 0.78
Serum gelsolin and rhabdomyolysis. J Neurol Sci (1998) 0.78
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. Acta Neurol Scand (1988) 0.78
Erythrocytes in Duchenne dystrophy: osmotic fragility and membrane deformability. Neurology (1979) 0.78
Pure quadriceps myopathy in two sisters. Eur J Neurol (2003) 0.77
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results. Clin Genet (1990) 0.77
CSF angiotensin-converting enzyme in neurosarcoidosis. Lancet (1985) 0.77
Myosin heavy-chain fragments and cardiac troponins in the serum in rhabdomyolysis. Diagnostic specificity of new biochemical markers. Arch Neurol (1995) 0.77
Reduced nicotinamide-adenine dinucleotide and pyruvate in urea-denaturation of lactic dehydrogenase isozymes. Nature (1966) 0.77
Myasthenia gravis and monoclonal IgG gammopathy. Neurology (1979) 0.77
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. Thromb Haemost (2000) 0.77
The effect of gemfibrozil on serum lipids in diabetic patients. Ann Clin Res (1979) 0.76
Blood transketolase in assessment of thiamine deficiency in alcoholics. Ann Med Exp Biol Fenn (1970) 0.76