More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

PubWeight™: 0.99‹?› | Rank: Top 15%

🔗 View Article (PMC 1683681)

Published in Am J Hum Genet on November 01, 1990

Authors

P Hechtman1, F Kaplan, J Bayleran, B Boulay, E Andermann, M de Braekeleer, S Melançon, M Lambert, M Potier, R Gagné

Author Affiliations

1: Research Institute, McGill University-Montreal Children's Hospital, Quebec, Canada.

Articles cited by this

Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science (1969) 5.77

The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem (1988) 3.61

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group. Proc Natl Acad Sci U S A (1988) 2.87

Identification of an altered splice site in Ashkenazi Tay-Sachs disease. Nature (1988) 2.23

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. Science (1989) 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

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A. J Biol Chem (1985) 1.66

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A (1982) 1.61

A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. Biochem Biophys Res Commun (1988) 1.49

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients. Am J Hum Genet (1990) 1.43

Organization of the gene encoding the human beta-hexosaminidase alpha-chain. J Biol Chem (1987) 1.42

Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res (1977) 1.30

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations. Am J Hum Genet (1990) 1.28

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes. Clin Chim Acta (1984) 1.27

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science (1986) 1.26

The application of an automated hexosaminidase assay to genetic screening. Clin Chim Acta (1974) 1.15

A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease. Am J Hum Genet (1987) 0.93

Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. Am J Hum Genet (1987) 0.90

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. Am J Hum Genet (1990) 0.90

A new form of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts. Clin Genet (1983) 0.81

Articles by these authors

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99

Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-alpha-D-N-acetylneuraminate) substrate. Anal Biochem (1979) 7.09

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Fatal enterovirus 71 encephalomyelitis. J Pediatr (1998) 3.39

Risk factors for falls as a cause of hip fracture in women. The Northeast Hip Fracture Study Group. N Engl J Med (1991) 3.39

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. Am J Hum Genet (1991) 2.56

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51

Echocardiography predicts embolic events in infective endocarditis. J Am Coll Cardiol (2001) 2.43

Validity of Euroqol--a generic health status instrument--in patients with rheumatoid arthritis. Economic and Health Outcomes Research Group. Br J Rheumatol (1994) 2.27

Behavioural problems in children who weigh 1000 g or less at birth in four countries. Lancet (2001) 2.08

A systematic review of the effectiveness of health service interventions aimed at reducing inequalities in health. J Health Serv Res Policy (1996) 2.08

Early childhood prolonged febrile convulsions, atrophy and sclerosis of mesial structures, and temporal lobe epilepsy: an MRI volumetric study. Neurology (1993) 2.07

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain (1995) 2.06

Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results. Ann Neurol (1995) 2.00

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet (1994) 1.95

Do you see what I see? Weight status misperception and exposure to obesity among children and adolescents. Int J Obes (Lond) (2008) 1.90

Population history and its impact on medical genetics in Quebec. Clin Genet (2005) 1.85

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet (2001) 1.80

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol (1997) 1.79

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet (1997) 1.77

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology (2000) 1.73

Congenital malformations due to antiepileptic drugs. Epilepsy Res (1999) 1.71

Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1. Cytogenet Cell Genet (1989) 1.70

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet (2005) 1.69

What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68

Homozygous familial hypercholesterolemia among French Canadians in Québec Province. Arteriosclerosis (1989) 1.68

Randomized double blind comparison of olanzapine vs. clozapine on subjective well-being and clinical outcome in patients with schizophrenia. Acta Psychiatr Scand (2005) 1.67

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet (2000) 1.65

Serum interleukin 10 titers in systemic lupus erythematosus reflect disease activity. Lupus (1995) 1.63

Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. Epilepsia (2001) 1.62

[Leishmaniasis and human immunodeficiency virus infections]. Presse Med (1995) 1.61

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology (2003) 1.61

Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. J Pediatr (1998) 1.60

Campylobacter enteritis and erythema nodosum. Lancet (1982) 1.59

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology (2005) 1.57

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet (1993) 1.57

Improvement of schizophrenic patients' subjective well-being under atypical antipsychotic drugs. Schizophr Res (2001) 1.56

Kufs' disease: a critical reappraisal. Brain (1988) 1.55

Neurologic crises in hereditary tyrosinemia. N Engl J Med (1990) 1.48

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol (1999) 1.47

Anticipation in familial cavernous angioma: ascertainment bias or genetic cause. Acta Neurol Scand (1998) 1.46

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr (1995) 1.46

Improved pregnancy outcome in epileptic women in the last decade: relationship to maternal anticonvulsant therapy. Brain Dev (1992) 1.46

Influence of aspirin on the clinical outcomes of 103 anti-phospholipid antibodies-positive patients. Lupus (2008) 1.45

Metabolic rate, not percent dehydration, predicts rectal temperature in marathon runners. Med Sci Sports Exerc (1991) 1.45

Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients. Ann Neurol (1991) 1.45

Cognitive dysfunction at baseline predicts symptomatic 1-year outcome in first-episode schizophrenics. Psychopathology (2000) 1.44

X-linked malformations of neuronal migration. Neurology (1996) 1.42

Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine. Neurology (1996) 1.41

Cardiac functional improvement by a human Bcl-2 transgene in a mouse model of ischemia/reperfusion injury. J Gene Med (2001) 1.41

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet (1998) 1.41

Association between Alzheimer disease and amyotrophic lateral sclerosis? Can J Neurol Sci (1990) 1.40

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean. Am J Hum Genet (1993) 1.40

Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease). Gastroenterology (1994) 1.39

Medical aspects of ketone body metabolism. Clin Invest Med (1995) 1.37

Temporal lobe epilepsy after prolonged febrile convulsions: excellent outcome after surgical treatment. Epilepsia (1993) 1.37

Bilateral porencephalic defect and bilateral perisylvian polymicrogyria. Brain Dev (1991) 1.37

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology (1996) 1.36

Deficient lysosomal carboxypeptidase activity in galactosialidosis. Biochem Biophys Res Commun (1990) 1.36

Atrophy of mesial structures in patients with temporal lobe epilepsy: cause or consequence of repeated seizures? Ann Neurol (1993) 1.34

Startle disease or hyperekplexia: further delineation of the syndrome. Brain (1980) 1.32

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr (1999) 1.31

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia (2001) 1.30

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population. Prog Clin Biol Res (1977) 1.30

Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized, double-blind, placebo-controlled trial with simvastatin. Circulation (2002) 1.29

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. Brain (1977) 1.29

Perioperative anaphylaxis. Med Clin North Am (2010) 1.29

Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. Clin Chim Acta (1982) 1.28

Hyperadiponectinaemia in anorexia nervosa. Clin Endocrinol (Oxf) (2003) 1.27

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes. Clin Chim Acta (1984) 1.27

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures. Neurology (2008) 1.23

Genetic and family studies in Friedreich's ataxia. Can J Neurol Sci (1976) 1.22

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet (1999) 1.21

Isolation of Campylobacter hyointestinalis from pigs in the United Kingdom. Vet Rec (1984) 1.21

Mycoplasma pneumoniae infections in a rural setting in Canada. CMAJ (1987) 1.20

Oculomotor abnormalities in Friedreich's ataxia. Can J Neurol Sci (1979) 1.20

Startle disorders of man: hyperekplexia, jumping and startle epilepsy. Brain Dev (1988) 1.19

Immunological profile in primary Sjögren syndrome: clinical significance, prognosis and long-term evolution to other auto-immune disease. Autoimmun Rev (2010) 1.19

Physical activity vs. sedentary time: independent associations with adiposity in children. Pediatr Obes (2012) 1.19

Genomic, protein homogeneity and antigenic variability of Mycoplasma agalactiae. Vet Microbiol (1996) 1.19

Periventricular and subcortical nodular heterotopia. A study of 33 patients. Brain (1995) 1.19

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Hum Genet (1988) 1.18

Cell cycle-dependent regulation of eukaryotic DNA methylase level. J Biol Chem (1985) 1.17

Prenatal diagnosis of hereditary tyrosinaemia: measurement of succinylacetone in amniotic fluid. Prenat Diagn (1982) 1.16

Administration of medicines by emergency nurse practitioners according to protocols in an accident and emergency department. J Accid Emerg Med (1997) 1.15

Pre-existing arterial stiffness can predict hypotension during induction of anaesthesia in the elderly. Br J Anaesth (2010) 1.15

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. Neurology (1998) 1.14

Intrinsic epileptogenicity in polymicrogyric cortex suggested by EEG-fMRI BOLD responses. Neurology (2005) 1.14

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol (1988) 1.14

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol (2000) 1.13

Reshaping a human monoclonal antibody to inhibit human respiratory syncytial virus infection in vivo. Biotechnology (N Y) (1991) 1.13

'Non-criteria' aPL tests: report of a task force and preconference workshop at the 13th International Congress on Antiphospholipid Antibodies, Galveston, TX, USA, April 2010. Lupus (2011) 1.13

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. J Neurol Neurosurg Psychiatry (1994) 1.12

Age-related decrease in the inducibility of heat-shock protein 70 in human peripheral blood mononuclear cells. J Clin Immunol (2002) 1.12

Ambient pH signalling in ascomycetous yeasts involves homologues of the Aspergillus nidulans genes palF and paIH. Mol Gen Genet (2000) 1.11

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. Nat Genet (1997) 1.11

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome. Neurology (1998) 1.11

DNA methylation pattern is determined by the intracellular level of the methylase. Proc Natl Acad Sci U S A (1984) 1.11