Published in Neurology on August 01, 1976
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A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet (1996) 0.90
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Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am J Hum Genet (1995) 0.85
Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. Am J Hum Genet (1997) 0.83
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Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet (1995) 0.82
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Normal cerebellar glutamate dehydrogenase protein in spinocerebellar degeneration. J Neurol Neurosurg Psychiatry (1989) 0.78
Delirium associated with Joseph disease. J Neurol Neurosurg Psychiatry (1993) 0.76
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A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science (1968) 2.69
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Agenesis of the lung. Report of four patients with unusual anomalies. Chest (1985) 2.33
Alzheimer's disease and its Lewy body variant: a clinical analysis of postmortem verified cases. Am J Psychiatry (1996) 2.30
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Salt--a dangerous "antidote". J Pediatr (1971) 2.12
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res (2000) 2.01
Vasoactive intestinal polypeptide: abundant immunoreactivity in neural cell lines and normal nervous tissue. Science (1976) 1.76
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest (1979) 1.73
Gene structure alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim. Mamm Genome (2001) 1.62
DNA-triplet repeats and neurologic disease. N Engl J Med (1996) 1.60
Competent patients with advanced states of permanent paralysis have the right to forgo life-sustaining therapy. Neurology (1993) 1.58
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis. Biochem Genet (1971) 1.57
Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology (1967) 1.50
Category fluency in mild cognitive impairment: reduced effect of practice in test-retest conditions. Alzheimer Dis Assoc Disord (2004) 1.48
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc Natl Acad Sci U S A (1994) 1.43
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med (1978) 1.42
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Carbon dioxide dynamics during apneic oxygenation: the effects of preceding hypocapnia. J Clin Anesth (1998) 1.41
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest (1981) 1.39
NTBC and alkaptonuria. Am J Hum Genet (1998) 1.38
The mechanism of phosphorylation-inducible activation of the ETS-domain transcription factor Elk-1. EMBO J (1999) 1.36
Peripheral neuropathy and starvation after gastric partitioning for morbid obesity. Ann Intern Med (1982) 1.31
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem (1989) 1.28
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol (1999) 1.28
Correlation of double-minute chromosomes with unstable multidrug cross-resistance in uptake mutants of neuroblastoma cells. Proc Natl Acad Sci U S A (1981) 1.28
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization. J Cell Sci (1975) 1.26
Markers for gene expression in cultured cells from the nervous system. J Biol Chem (1972) 1.26
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res (1989) 1.25
An improved technique for the separation of glucose 6-phosphate dehydrogenase isoenzymes by disc electrophoresis on polyacrylamide gel. Biochem Genet (1969) 1.25
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates. J Pediatr (1973) 1.25
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr (1976) 1.24
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis (1981) 1.23
Transverse myelitis associated with heroin addiction. JAMA (1968) 1.22
Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology (1995) 1.21
Inheritable biotin-treatable disorders and associated phenomena. Annu Rev Nutr (1986) 1.21
Effects of practice on category fluency in Alzheimer's disease. Clin Neuropsychol (2001) 1.20
Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr (1971) 1.20
Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr (1969) 1.20
Two forms of cutis laxa presenting in the newborn period. Acta Paediatr Scand (1978) 1.20
Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol (1999) 1.19
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Apoptosis and neurologic disease. Am J Med (2000) 1.17
Glutaric aciduria Type II. J Pediatr (1980) 1.16
DNA bending in the ternary nucleoprotein complex at the c-fos promoter. Nucleic Acids Res (1995) 1.14
The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids (2004) 1.14
DNA binding by MADS-box transcription factors: a molecular mechanism for differential DNA bending. Mol Cell Biol (1997) 1.14
Abnormalities of fatty acid oxidation. N Engl J Med (1988) 1.13
Mononeuritis multiplex in lepromatous leprosy. Arch Neurol (1968) 1.12
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res (1982) 1.12
Effects of azathiprine in a disorder of uric acid metabolism and cerebral function. J Pediatr (1968) 1.10
A new disorder of purine metabolism with behavioral manifestations. J Pediatr (1969) 1.07
Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis). A clinical, ultrastructural, and chemical study. Neurology (1971) 1.07
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. J Biol Chem (1972) 1.07
Nonketotic hyperglycinemia. J Pediatr (1969) 1.07
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Neutropenia of childhood. West J Med (1982) 1.05
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr (1988) 1.05
Lesch-Nyhan disease: clinical experience with nineteen patients. Dev Med Child Neurol (1982) 1.05
Acute basal ganglia infarction in propionic acidemia. J Child Neurol (1995) 1.05
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features. Fed Proc (1968) 1.05
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme. Proc Natl Acad Sci U S A (1972) 1.04
The Lesch-Nyhan syndrome. Annu Rev Med (1973) 1.04
Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts. Proc Natl Acad Sci U S A (1973) 1.04
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol (1989) 1.03
Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res (1979) 1.03
Self-injurious behavior: gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev (2001) 1.03
Congenital cutis laxa and osteoporosis. Am J Dis Child (1983) 1.02
Cerebral gigantism: concentrations of amino acids in plasma and muscle. J Pediatr (1970) 1.02
Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn (1999) 1.02
Platelet APP isoform ratios correlate with declining cognition in AD. Neurology (2000) 1.01
Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities. Arch Neurol (1974) 1.01
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr (1988) 1.01
3-Hydroxy-3-methylglutaric aciduria. J Neurogenet (1984) 1.00
Comparison of the hopkins verbal learning test-revised to the California verbal learning test in Alzheimer's disease. Appl Neuropsychol (2001) 1.00
Malonic aciduria. Brain Dev (1994) 1.00
Late-onset holocarboxylase synthetase deficiency. J Inherit Metab Dis (1996) 1.00
Behavior in the Lesch--Nyhan syndrome. J Autism Child Schizophr (1976) 0.99
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. J Pediatr (1975) 0.99
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism. Clin Chim Acta (1983) 0.99
Editorial: Diabetic ketosis and acidosis: The continuous infusion of low doses of insulin. J Pediatr (1975) 0.99
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Pediatr Res (1977) 0.99
Neurological complications of fibrous dysplasia of the skull. Arch Neurol (1968) 0.99
Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol (1994) 0.99
Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol (1995) 0.98
Short-chain organic acidemia and Reye's syndrome. Neurology (1975) 0.98
Nerve conduction changes in patients with mitochondrial diseases treated with dichloroacetate. Muscle Nerve (2001) 0.98
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme. Biochem Genet (1972) 0.98
Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. Adv Neurol (1978) 0.97