Published in Clin Genet on March 01, 1977
Mitochondrial dysfunction in idiopathic Parkinson disease. Am J Hum Genet (1998) 1.04
The genetic basis of Parkinson's disease. J Neurol Neurosurg Psychiatry (2002) 0.84
Dementia associated with Parkinson's disease: a genetic study. J Neurol Neurosurg Psychiatry (1980) 0.77
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89
Association of mammographically defined percent breast density with epidemiologic risk factors for breast cancer (United States). Cancer Causes Control (2000) 2.85
Risk of recurrent seizures after two unprovoked seizures. N Engl J Med (1998) 2.74
Oxidative damage in Alzheimer's. Nature (1996) 2.55
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations. Am J Hum Genet (1967) 2.32
Seizure recurrence after a first unprovoked seizure. N Engl J Med (1982) 2.23
Genetic analysis of mammographic breast density in adult women: evidence of a gene effect. J Natl Cancer Inst (1997) 2.21
Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations. J Clin Invest (1980) 1.90
Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia. Neurosci Lett (1992) 1.82
Seizure recurrence after a 1st unprovoked seizure: an extended follow-up. Neurology (1990) 1.76
Hemodynamic effects of intermittent positive pressure respiration. Anesthesiology (1966) 1.67
Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions. Arch Gen Psychiatry (1981) 1.67
Seizures and myoclonus in patients with Alzheimer's disease. Neurology (1986) 1.53
Crystal structure of the SarR protein from Staphylococcus aureus. Proc Natl Acad Sci U S A (2001) 1.48
Pycnodysostosis. Clinical and genetic considerations. Am J Dis Child (1968) 1.43
Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature (1989) 1.40
Analysis of linkage between the major histocompatibility system and juvenile, insulin-dependent diabetes in multiplex families. Reanalysis of data. J Clin Invest (1978) 1.38
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. Z Kinderheilkd (1970) 1.38
Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation. Neurology (1997) 1.35
Cytochemical demonstration of oxidative damage in Alzheimer disease by immunochemical enhancement of the carbonyl reaction with 2,4-dinitrophenylhydrazine. J Histochem Cytochem (1998) 1.27
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet (1998) 1.26
Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. Arch Dermatol (1966) 1.26
Assay of low deuterium enrichment of water by isotopic exchange with [U-13C3]acetone and gas chromatography-mass spectrometry. Anal Biochem (1998) 1.24
Short arm deletion of chromosome 18 in cebocephaly. Am J Dis Child (1968) 1.23
Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology (1984) 1.22
Parkinson's disease. Clinical analysis of 100 patients. Neurology (1973) 1.20
Epidemiology and the genetics of epilepsy. Res Publ Assoc Res Nerv Ment Dis (1983) 1.19
Awareness of sickle cell abnormalities. A medical and lay community problem. Ohio State Med J (1974) 1.15
Identification of the sites of hydroxyl radical reaction with peptides by hydrogen/deuterium exchange: prevalence of reactions with the side chains. Biochemistry (2000) 1.15
Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology (1993) 1.13
Parkinson's disease. A genetic study. Brain (1973) 1.13
The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology (1982) 1.11
The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr (1980) 1.11
Hypohaptoglobinemia associated with familial epilepsy. J Exp Med (1985) 1.10
Complex segregation analysis of febrile convulsions. Am J Hum Genet (1987) 1.06
The risk of seizure disorders among relatives of children with febrile convulsions. Neurology (1985) 1.06
'Footprinting' proteins on DNA with peroxonitrous acid. Nucleic Acids Res (1993) 1.05
Patterns of clinical response and plasma dopa levels in Parkinson's disease. Neurology (1975) 1.05
Method of surface-induced deep hypothermia for open-heart surgery in infants. J Thorac Cardiovasc Surg (1969) 1.04
Genetic association of multiple sclerosis and HL-A determinants. Neurology (1976) 1.03
Inactivation of CMY-2 beta-lactamase by tazobactam: initial mass spectroscopic characterization. Biochim Biophys Acta (2001) 1.02
Crotonase-catalyzed beta-elimination is concerted: a double isotope effect study. Biochemistry (1991) 1.01
Assortative marriage. Eugen Q (1968) 1.00
Hydroxyl radical-induced hydrogen/deuterium exchange in amino acid carbon-hydrogen bonds. Radiat Res (1999) 1.00
Role of glutamate 144 and glutamate 164 in the catalytic mechanism of enoyl-CoA hydratase. Biochemistry (1999) 0.98
Incidence of thin membrane nephropathy: morphometric investigation of a population sample. J Clin Pathol (1990) 0.97
Intellectual changes associated with levodopa therapy. JAMA (1970) 0.97
Cardiorespiratory effects of epinephrine when used in regional anesthesia. Acta Anaesthesiol Scand Suppl (1966) 0.96
Seizure disorders in offspring of parents with a history of seizures - a maternal-paternal difference? Epilepsia (1976) 0.95
Enoyl-coenzyme A hydratase-catalyzed exchange of the alpha-protons of coenzyme A thiol esters: a model for an enolized intermediate in the enzyme-catalyzed elimination? Biochemistry (1994) 0.94
Reaction intermediate analogues for enolase. Biochemistry (1984) 0.93
Isotope effects on binding of NAD+ to lactate dehydrogenase. Biochemistry (1989) 0.92
Juvenile parkinsonism. Arch Neurol (1971) 0.92
Fifty-year follow-up of cancer incidence in a historical cohort of Minnesota breast cancer families. Cancer Epidemiol Biomarkers Prev (1999) 0.92
Clinical and genetic investigation of a large kindred with multiple endocrine adenomatosis. N Engl J Med (1967) 0.92
Epidemiologic and genetic follow-up study of 544 Minnesota breast cancer families: design and methods. Genet Epidemiol (1995) 0.92
Congenital malformations and seizure disorders in the offspring of parents with epilepsy. Int J Epidemiol (1978) 0.91
Adverse reactions during treatment of Parkinson's disease with levodopa. JAMA (1971) 0.91
Orientation of coenzyme A substrates, nicotinamide and active site functional groups in (Di)enoyl-coenzyme A reductases. Biochemistry (2000) 0.91
Nitrous oxide effects on the circulatory and ventilatory responses to halothane. Anesthesiology (1969) 0.90
The mechanism of dienoyl-CoA reduction by 2,4-dienoyl-CoA reductase is stepwise: observation of a dienolate intermediate. Biochemistry (2001) 0.90
Primary and secondary kinetic isotope effects as probes of the mechanism of yeast enolase. Biochemistry (1994) 0.89
Nonhomogeneous labeling of liver extra-mitochondrial acetyl-CoA. Implications for the probing of lipogenic acetyl-CoA via drug acetylation and for the production of acetate by the liver. J Biol Chem (1994) 0.89
Familial cerebral cavernous angioma: clinical analysis of a family and phenotypic classification. Epilepsy Res (1995) 0.89
Predesign investigation of the anesthesia operational environment. Anesth Analg (1973) 0.89
Familial cerebral cavernous angioma: a gene localized to a 15-cM interval on chromosome 7q. Ann Neurol (1996) 0.88
Sites of hydroxyl radical reaction with amino acids identified by (2)H NMR detection of induced (1)H/(2)H exchange. J Am Chem Soc (2001) 0.88
Methodological innovations in data gathering: newborn screening linkage with live births records, Michigan, 1/2007-3/2008. Matern Child Health J (2009) 0.88
Stereochemistry of the reactions catalyzed by chicken liver fatty acid synthase. Biochemistry (1984) 0.88
3-Hydroxy-3-methylglutaryldithio-coenzyme A: a potent inhibitor of Pseudomonas mevalonii HMG-CoA reductase. Biochem Med Metab Biol (1991) 0.88
The relative safety of polymethylmethacrylate. A controlled clinical study of randomly selected patients treated with Charnley and ring total hip replacements. J Bone Joint Surg Am (1975) 0.88
Isotope effects on the crotonase reaction. Biochemistry (1989) 0.87
An inquiry into the source of stereospecificity of lactate dehydrogenase using substrate analogues and molecular modeling. Biochemistry (1992) 0.87
The cardiovascular effects of morphine sulfate with oxygen and with nitrous oxide in man. Anesthesiology (1973) 0.87
Electronic rearrangement induced by substrate analog binding to the enoyl-CoA hydratase active site: evidence for substrate activation. Biochemistry (1994) 0.86
Effects of continuous positive-pressure ventilation on gas exchange in acute pulmonary edema. J Appl Physiol (1971) 0.86
Genetic heterogeneity in the epilepsies. Adv Neurol (1986) 0.86
Structure of hexadienoyl-CoA bound to enoyl-CoA hydratase determined by transferred nuclear Overhauser effect measurements: mechanistic predictions based on the X-ray structure of 4-(chlorobenzoyl)-CoA dehalogenase. Biochemistry (1997) 0.86
Lactate dehydrogenase displays absolute stereospecificity in the transfer of the prochiral hydrogen of NADH. J Biol Chem (1989) 0.84
Hemodynamic effects of changes in arterial carbon dioxide tension during intermittent positive pressure ventilation. Anesthesiology (1967) 0.84
Equilibrium and kinetic parameters of the sequence-specific interaction of Escherichia coli RNA polymerase with nontemplate strand oligodeoxyribonucleotides. Biochemistry (1998) 0.84
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. Gastroenterology (1966) 0.84
Hypohaptoglobinemia: a possible predisposition to epilepsy. Trans Assoc Am Physicians (1984) 0.83
Empirical risk for insulin-dependent diabetes (IDD) in sibs. Further definition of genetic heterogeneity. Diabetes (1982) 0.83
Semiempirical calculations of the oxygen equilibrium isotope effect on binding of oxamate to lactate dehydrogenase. Eur Biophys J (1994) 0.82
Cardiovascular effects of total hip placement in man. With observations on the effects of methylmethacrylate on the isolated rabbit heart. Clin Pharmacol Ther (1977) 0.82
Behavioral and biochemical correlates of diet change in phenylketonuria. Pediatr Res (1976) 0.82
Effect of epinephrine on arteriolar vasodilation produced by brachial plexus block. Acta Anaesthesiol Scand Suppl (1966) 0.82
Probing the higher order structure of RNA with peroxonitrous acid. FEBS Lett (1996) 0.81
Routes of excretion of neuronal lysosomal dense bodies after ventricular infusion of leupeptin in the rat: a study using ubiquitin and PGP 9.5 immunocytochemistry. J Neurocytol (1993) 0.81
Regulation of the biosynthesis of N-acetylglucosaminylpyrophosphoryldolichol, feedback and product inhibition. J Biol Chem (1999) 0.81
Role of the carbonyl group in thioester chain length recognition by the medium chain acyl-CoA dehydrogenase. Biochemistry (1995) 0.81
Assay of the concentration and 13C enrichment of acetate and acetyl-CoA by gas chromatography-mass spectrometry. Anal Biochem (1994) 0.81
Equilibrium isotope effect on ternary complex formation of [1-18O]oxamate with NADH and lactate dehydrogenase. Biochemistry (1995) 0.81
Genetic anticipation and breast cancer: a prospective follow-up study. Breast Cancer Res Treat (1999) 0.81
School behavior profile ratings of phenylketonuric children. Am J Ment Defic (1968) 0.81
Abdominal-muscle rigidity induced by morphine and nitrous oxide. Anesthesiology (1973) 0.81
Kinetic isotope effects on substrate association: reactions of phosphoenolpyruvate with phosphoenolpyruvate carboxylase and pyruvate kinase. Biochemistry (1995) 0.81