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List of works by Marion Coulter-Mackie

4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?

scientific article published on 01 December 2006

A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis (NF1) exon 39

scientific article published on 01 January 1997

A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage ⬇️

scientific article published on November 1, 1991

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

scientific article

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples ⬇️

scientific article published on April 1, 1991

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion

scientific article published on 01 November 1998

Assembly of Mouse Hepatitis Virus Strain JHM ⬇️

scientific article published on January 1, 1981

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations

scientific article

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.

scientific article published on February 1997

Enzymatic synthesis of deoxyribonucleic acids with repeating sequences. A new repeating trinucleotide deoxyribonucleic acid, d(T-C-C)n-d(G-G-A)n

scientific article published on 01 April 1974

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

scientific article

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

scientific article published in April 1993

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.

scientific article published on 19 October 2011

Identification of 6 new mutations in the iduronate sulfatase gene

article

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online

scientific article published on 01 January 1999

In vitro synthesis and detection of deoxyribonucleic acids with covalently linked complementary sequences ⬇️

scientific article published on April 9, 1974

In vivo and in vitro models of demyelinating disease X. A Schwannoma-L-2 somatic cell hybrid persistently yielding high titres of mouse hepatitis virus strain JHM ⬇️

scientific article published on September 1, 1984

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.

scientific article published in September 1984

In vivo and in vitro models of demyelinating diseases

scientific article published on 01 January 1981

In vivo and in vitro models of demyelinating diseases II. Persistence and host-regulated thermosensitivity in cells of neural derivation infected with mouse hepatitis and measles viruses ⬇️

scientific article published on July 15, 1978

In vivo and in vitro models of demyelinating diseases--VIII: Genetic, immunologic and cellular influences on JHM virus infection of rats.

scientific article published in January 1984

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.

scholarly article

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.

scientific article

Inhibition of myogenesis in a rat myoblast line by 5-bromodeoxyuridine

scientific article published on July 31, 1975

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

scientific article published on 22 February 2011

Measles virus encephalitis and retinopathy in the Wistar rat.

scientific article

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene

scientific article

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

scientific article published in August 2003

Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results

scientific article

Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor

scientific article

Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

scientific article published on 22 June 2012

Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

scientific article published on 24 February 2014

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.

scientific article published on 29 April 2008

Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.

scientific article published in May 2005

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

scientific article published on June 2009

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

scientific article published on 23 April 2012

Purification and structure of human liver aspartylglucosaminidase ⬇️

scientific article published on December 15, 1992

SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype

scientific article

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.

scientific article published in June 2003

The noncoordinate expression of muscle-specific proteins in mutant rat skeletal myoblasts and reinitiation of differentiation in hybrids

scientific article published on September 1, 1978

Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.

scientific article published in November 2001

Thymine-guanine base pairing during transcription of polydeoxypyrimidines in vitro.

scientific article

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles

scientific article published on 01 November 1997

Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy ⬇️

scientific article published on 01 January 1998

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy ⬇️

scientific article published on July 1, 2012

Variable onset of metachromatic leukodystrophy in a Vietnamese family

scientific article published on 01 August 2000

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