about
Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factorConsequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutationsA genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A genePrimary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).In vivo and in vitro models of demyelinating diseases. V. Comparison of the assembly of mouse hepatitis virus, strain JHM, in two murine cell lines.Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.Measles virus encephalitis and retinopathy in the Wistar rat.In vivo and in vitro models of demyelinating diseases. IV. Isolation of Hallé measles virus-specific RNA from BGMK cells and preparation of complementary DNA.In vivo and in vitro models of demyelinating diseases--VIII: Genetic, immunologic and cellular influences on JHM virus infection of rats.In vivo and in vitro models of demyelinating disease. IX. Progression of JHM virus infection in the central nervous system of the rat during overt and asymptomatic phases.Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.Thymine-guanine base pairing during transcription of polydeoxypyrimidines in vitro.Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.Identification of 6 new mutations in the iduronate sulfatase geneVariable onset of metachromatic leukodystrophy in a Vietnamese familyEnzymatic synthesis of deoxyribonucleic acids with repeating sequences. A new repeating trinucleotide deoxyribonucleic acid, d(T-C-C)n-d(G-G-A)nIn vivo and in vitro models of demyelinating diseasesA five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency allelesIdentification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. OnlineA protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0002-9552-2930
@en
name
Marion Coulter-Mackie
@ast
Marion Coulter-Mackie
@en
Marion Coulter-Mackie
@es
Marion Coulter-Mackie
@nl
type
label
Marion Coulter-Mackie
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Marion Coulter-Mackie
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Marion Coulter-Mackie
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Marion Coulter-Mackie
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prefLabel
Marion Coulter-Mackie
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Marion Coulter-Mackie
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Marion Coulter-Mackie
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Marion Coulter-Mackie
@nl
P106
P31
P496
0000-0002-9552-2930