Published in Am J Hum Genet on November 01, 1973
Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells. J Med Genet (1976) 0.77
Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus. J Neurol Neurosurg Psychiatry (1978) 0.75
Protein measurement with the Folin phenol reagent. J Biol Chem (1951) 1743.91
Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science (1969) 5.77
Generalized gangliosidosis: beta-galactosidase deficiency. Science (1968) 2.51
Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci U S A (1970) 2.48
Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science (1967) 2.13
Lactosylceramide galactosidase: comparison with other sphingolipid hydrolases in developing rat brain. Brain Res (1969) 1.72
Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science (1968) 1.67
Krabbe's globoid cell leukodystrophy: deficiency of glactocerebrosidase in serum, leukocytes, and fibroblasts. Science (1971) 1.55
A histological and chemical study of three cases of diffuse cerebral sclerosis. J Neurol Neurosurg Psychiatry (1954) 1.51
Isolation of beta-galactosidase and beta-glucosidase from brain. Biochim Biophys Acta (1966) 1.31
Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts. Am J Hum Genet (1971) 1.29
Human leucocyte arylsulphatase activity. Br J Haematol (1962) 1.29
The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy). Brain (1969) 1.28
Infantile metachromatic leukodystrophy. N Engl J Med (1970) 1.20
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The lysosomal localization of sphingolipid hydrolases. Biochim Biophys Acta (1968) 1.02
In utero diagnosis of globoid cell leukodystrophy (Krabb's disease). Biochem Biophys Res Commun (1971) 1.02
The peripheral neuropathy of Krabbe's (globoid) leukodystrophy. Neurology (1969) 1.01
Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Pediatr Res (1971) 0.96
Tubules of globoid leukodystrophy: a right-handed helix. Science (1970) 0.96
A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state. Neurology (1970) 0.93
Brain sphingoglycolipids in Krabbe's globoid cell leucodystrophy. J Neurochem (1971) 0.83
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Approaches to the control and prevention of Tay-Sachs disease. Prog Med Genet (1974) 3.43
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
Guillain-Barré syndrome in northern China. Relationship to Campylobacter jejuni infection and anti-glycolipid antibodies. Brain (1995) 2.61
Patterns of Guillain-Barre syndrome in children: results from a Mexican population. Neurology (2007) 2.32
Diffusion- and perfusion-weighted brain magnetic resonance imaging in patients with neurologic complications after cardiac surgery. Arch Neurol (2001) 2.30
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet (1994) 2.25
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet (1997) 2.19
Motor nerve terminal degeneration provides a potential mechanism for rapid recovery in acute motor axonal neuropathy after Campylobacter infection. Neurology (1997) 2.15
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol (2000) 2.03
Cellular autofluorescence--is it due to flavins? J Histochem Cytochem (1979) 1.99
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet (1990) 1.94
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A (1989) 1.86
Pathology of the motor-sensory axonal Guillain-Barré syndrome. Ann Neurol (1996) 1.85
Cognitive changes 5 years after coronary artery bypass grafting: is there evidence of late decline? Arch Neurol (2001) 1.83
Delayed neurological sequelae of electrical injuries. Neurology (1968) 1.81
The clinical correlates of high-titer IgG anti-GM1 antibodies. Ann Neurol (1994) 1.79
Tay-Sachs screening: motives for participating and knowledge of genetics and probability. Am J Hum Genet (1976) 1.74
Extrapyramidal involvement in Rett's syndrome. Neurology (1990) 1.74
Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology (2011) 1.72
Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science (1968) 1.67
Acute motor axonal neuropathy: an antibody-mediated attack on axolemma. Ann Neurol (1996) 1.59
Multiple sclerosis in Rochester, Minn. A 60-year appraisal. Arch Neurol (1971) 1.58
Early nodal changes in the acute motor axonal neuropathy pattern of the Guillain-Barré syndrome. J Neurocytol (1996) 1.51
Resolution of central pain after embolization of an arteriovenous malformation. Case report. J Neurosurg (1999) 1.51
Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection. Pediatrics (1992) 1.50
Some influences on public participation in a genetic screening program. J Community Health (1975) 1.47
Early progressive encephalopathy in boys and MECP2 mutations. Neurology (2006) 1.44
Retinol esterification in bovine retinal pigment epithelium: reversibility of lecithin:retinol acyltransferase. Biochem J (1993) 1.44
Physiologic-pathologic correlation in Guillain-Barré syndrome in children. Neurology (2000) 1.43
Functional specialization and topographic segregation of hippocampal astrocytes. J Neurosci (1998) 1.42
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am J Hum Genet (1992) 1.41
Statin use and neurologic morbidity after coronary artery bypass grafting: A cohort study. Neurology (2009) 1.41
Molecular population genetic analysis of Campylobacter jejuni HS:19 associated with Guillain-Barré syndrome and gastroenteritis. J Infect Dis (2001) 1.40
Epilepsy and the natural history of Rett syndrome. Neurology (2010) 1.40
Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population. Am J Hum Genet (1982) 1.38
Chiari type I malformation in children. J Pediatr (1989) 1.36
Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science (1971) 1.35
Serum antibodies to gangliosides in Guillain-Barré syndrome. Ann Neurol (1988) 1.34
Immune attack on the Schwann cell surface in acute inflammatory demyelinating polyneuropathy. Ann Neurol (1996) 1.34
Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology (2000) 1.33
Feline GM 1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man. J Neuropathol Exp Neurol (1973) 1.32
Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation. Am J Hum Genet (1975) 1.31
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet (1981) 1.29
Anti-GD1a antibody is associated with axonal but not demyelinating forms of Guillain-Barré syndrome. Ann Neurol (1999) 1.28
Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med (1985) 1.26
Neoplasms of the central nervous system. Epidemiologic considerations. Neurology (1972) 1.22
The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin. Am J Hum Genet (1983) 1.22
Electrocardiographic findings in Rett syndrome: an explanation for sudden death? J Pediatr (1994) 1.22
Radioimmunoassay of myelin basic protein in spinal fluid. An index of active demyelination. N Engl J Med (1976) 1.21
Segregation of an insertional chromosome rearrangement in 3 generations. J Med Genet (1978) 1.20
Infantile metachromatic leukodystrophy. N Engl J Med (1970) 1.20
Neuropathology of Rett syndrome. Acta Neuropathol (1988) 1.19
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. J Child Neurol (1998) 1.16
Optic neuritis and multiple sclerosis. An epidemiologic study. Arch Ophthalmol (1972) 1.15
Rett syndrome and associated movement disorders. Mov Disord (1990) 1.15
The in vivo and in vitro synthesis of sulphatides during development. J Neurochem (1967) 1.15
Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res (1979) 1.15
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem (1990) 1.15
The pathophysiology of oral pharyngeal apraxia and mutism following posterior fossa tumor resection in children. J Neurosurg (1995) 1.15
Campylobacter jejuni lipopolysaccharides in Guillain-Barré syndrome: molecular mimicry and host susceptibility. Neurology (1998) 1.14
Long-term treatment of juvenile Huntington's chorea with dipropylacetic acid. Neurology (1977) 1.13
Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective. Prog Clin Biol Res (1977) 1.13
Motor conduction studies in Guillain-Barré syndrome: description and prognostic value. Ann Neurol (1988) 1.13
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem (1984) 1.12
Neurobehavioural sequelae of cardiopulmonary bypass. Lancet (1999) 1.11
Tay-Sachs screening: social and psychological impact. Am J Hum Genet (1976) 1.11
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet (1992) 1.10
Differential distribution of HLA alleles in two forms of Guillain-Barré syndrome. J Infect Dis (1997) 1.09
Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev (1990) 1.09
Absence of clonality of Campylobacter jejuni in serotypes other than HS:19 associated with Guillain-Barré syndrome and gastroenteritis. J Infect Dis (2001) 1.07
Adult hemoglobin synthesis by reticulocytes from the human fetus at midtrimester. Science (1971) 1.06
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. N Engl J Med (1971) 1.06
Krabbe disease: specific MRI and CT findings. Neurology (1986) 1.05
Tay-Sachs disease: high gene frequency in a non-Jewish population. Am J Hum Genet (1975) 1.05
Subthalamic nucleus stimulation in advanced Parkinson's disease: blinded assessments at one year follow up. J Neurol Neurosurg Psychiatry (2004) 1.05
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet (2005) 1.04
Tay-Sachs disease: one-step assay of beta-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate. Clin Chim Acta (1983) 1.03
A diagnostic index of active demyelination: myelin basic protein in cerebrospinal fluid. Ann Neurol (1980) 1.03
Treatment of chronic relapsing inflammatory polyradiculoneuropathy by plasma exchange. Ann Neurol (1979) 1.03
Rett syndrome: cerebellar pathology. Pediatr Neurol (1991) 1.02
Neuropsychologic change after cardiac surgery: a critical review. J Cardiothorac Vasc Anesth (1996) 1.02
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am J Hum Genet (1993) 1.02
Brain lipid composition of the shiverer mouse: (genetic defect in myelin development). J Neurochem (1978) 1.02
Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol (1989) 1.01
Intensive management and treatment of severe Guillain-Barré syndrome. Crit Care Med (1993) 1.01
Reduced deformability of erythrocyte membranes from patients with Duchenne muscular dystrophy. Nature (1975) 1.00
Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol (1987) 1.00
Ganglioside GM1 mimicry in Campylobacter strains from sporadic infections in the United States. J Infect Dis (1999) 0.99
Patterns of recovery in the Guillain-Barre syndromes. Neurology (1997) 0.99
Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria. Biochem Genet (1970) 0.99
Epidemiology of Rett syndrome: a population-based registry. Pediatrics (1993) 0.98
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies. Hum Mutat (1992) 0.98
Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla. J Child Neurol (1999) 0.97
The pattern of growth failure in Rett syndrome. Am J Dis Child (1993) 0.97
Ictal patterns of neocortical seizures monitored with intracranial electrodes: correlation with surgical outcome. Epilepsia (1999) 0.96
Intrauterine diagnosis: comparative enzymology of cells cultivated from maternal skin, fetal skin, and amniotic fluid cells. Pediatr Res (1971) 0.96