Marion B Coulter-Mackie : rechercher sur Z-Library

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

Marion B. Coulter-Mackie, Ailin Li, Qun Lian, Eduard Struys, Sylvia Stockler, Paula J. Waters

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 305 KB

english, 2012

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

Coulter-Mackie, Marion, Gagnier, Liane

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 140 KB

english, 1997

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

David I. Rodenhiser, Jack H. Jung, Jane M. R. Gillet, Ken Hovland, Joseph Andrews, Peter J. Ainsworth, Marion Coulter-Mackie, Shiva M. Singh

Journal:

Human Mutation

Année:

1997

Langue:

english

Fichier:

PDF, 84 KB

english, 1997

Identification of 6 new mutations in the iduronate sulfatase gene

Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie

Journal:

Human Mutation

Année:

1999

Langue:

english

Fichier:

PDF, 21 KB

english, 1999

Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Human Mutation

Année:

2001

Langue:

english

Fichier:

PDF, 579 KB

english, 2001

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

Dr. Marion B. Coulter-Mackie, Liane Gagnier

Journal:

Human Mutation

Année:

1998

Langue:

english

Fichier:

PDF, 248 KB

english, 1998

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

Emma L. Williams, Cecile Acquaviva, Antonio Amoroso, Francoise Chevalier, Marion Coulter-Mackie, Carla G. Monico, Daniela Giachino, Tricia Owen, Angela Robbiano, Eduardo Salido, Hans Waterham, Gill Ru

Journal:

Human Mutation

Année:

2009

Langue:

english

Fichier:

PDF, 243 KB

english, 2009

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

Marion B. Coulter-Mackie, Qun Lian, Derek A. Applegarth, Jennifer Toone, Paula J. Waters, Hilary Vallance

Journal:

Clinical Biochemistry

Année:

2008

Langue:

english

Fichier:

PDF, 146 KB

english, 2008

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

Marion B. Coulter-Mackie, Derek A. Applegarth, Jennifer Toone, Hilary Vallance

Journal:

Clinical Biochemistry

Année:

1997

Langue:

english

Fichier:

PDF, 470 KB

english, 1997

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

Marion B Coulter-Mackie, Derek A Applegarth, Jennifer R Toone, Liane Gagnier

Journal:

Clinical Biochemistry

Année:

1998

Langue:

english

Fichier:

PDF, 260 KB

english, 1998

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)

Derek A. Applegarth, Marie-Odile Rolland, Jennifer R. Toone, Marion Coulter-Mackie, Robert Saura

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 60 KB

english, 2002

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias1

Rumsby, Gill, Williams, Emma, Coulter-Mackie, Marion

Journal:

Kidney International

Année:

2004

Langue:

english

Fichier:

PDF, 87 KB

english, 2004

Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Molecular Genetics and Metabolism

Année:

2000

Langue:

english

Fichier:

PDF, 90 KB

english, 2000

Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH)

Jennifer R. Toone, Derek A. Applegarth, Marion B. Coulter-Mackie, Erick R. James

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 61 KB

english, 2001

Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria

Marion B. Coulter-Mackie, Gillian Rumsby, Derek A. Applegarth, Jennifer R. Toone

Journal:

Molecular Genetics and Metabolism

Année:

2001

Langue:

english

Fichier:

PDF, 178 KB

english, 2001

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

Marion B. Coulter-Mackie, Qun Lian, Steve G. Wong

Journal:

Protein Expression and Purification

Année:

2005

Langue:

english

Fichier:

PDF, 311 KB

english, 2005

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1

Marion B Coulter-Mackie, Derek Applegarth, Jennifer R Toone, Howard Henderson

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 352 KB

english, 2004

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Marion B. Coulter-Mackie, Qun Lian, Derek Applegarth, Jennifer Toone

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 299 KB

english, 2005

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis

Marion B. Coulter-Mackie, Gill Rumsby

Journal:

Molecular Genetics and Metabolism

Année:

2004

Langue:

english

Fichier:

PDF, 535 KB

english, 2004

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

Hilary Vallance, Tara J. Morris, Marion Coulter-Mackie, Joyce Lim-Steele, Michael Kaback

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 252 KB

english, 2006

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

Catherine Brunel-Guitton, Brett Casey, Marion Coulter-Mackie, Hilary Vallance, Deborah Hewes, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 267 KB

english, 2011

Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Sylvia Stockler, Barbara Plecko, Sidney M. Gospe Jr., Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein,

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 361 KB

english, 2011

Variable onset of metachromatic leukodystrophy in a Vietnamese family

Laura T Arbour, Kenneth Silver, Peter Hechtman, Eileen P Treacy, Marion B Coulter-Mackie

Journal:

Pediatric Neurology

Année:

2000

Langue:

english

Fichier:

PDF, 185 KB

english, 2000

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Jennifer R. Toone, Derek A. Applegarth, Shigeo Kure, Marion B. Coulter-Mackie, Payam Sazegar, Kanako Kojima, Akiko Ichinohe

Journal:

Molecular Genetics and Metabolism

Année:

2002

Langue:

english

Fichier:

PDF, 302 KB

english, 2002

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans

Marion B Coulter-Mackie, Andrew Tung, Howard E Henderson, Jennifer R Toone, Derek A Applegarth

Journal:

Molecular Genetics and Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 224 KB

english, 2003

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

Marion B Coulter-Mackie, Liane Gagnier

Journal:

Molecular Genetics and Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 263 KB

english, 2003

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

Jennifer R Toone, Derek A Applegarth, Harvey L Levy, Marion B Coulter-Mackie, Gary Lee

Journal:

Molecular Genetics and Metabolism

Année:

2003

Langue:

english

Fichier:

PDF, 249 KB

english, 2003

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

Marion B. Coulter-Mackie, Wayne C. Bradbury, Samuel Dales, Wayne F. Flintoff, Vincent L. Morris

Journal:

Virology

Année:

1980

Langue:

english

Fichier:

PDF, 4.65 MB

english, 1980

Preliminary Evidence for Ethnic Differences in Primary Hyperoxaluria Type 1 Genotype

Coulter-Mackie, Marion B.

Journal:

American Journal of Nephrology

Année:

2005

Langue:

english

Fichier:

PDF, 137 KB

english, 2005

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

Coulter-Mackie, Marion B., Tiebout, Sylvia, van Karnebeek, Clara, Stockler, Sylvia

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 353 KB

english, 2014

In vivo and in vitro models of demyelinating diseases

Coulter-Mackie, Marion, Adler, Richard, Wilson, Greame, Dales, Samuel

Journal:

Virus Research

Année:

1985

Langue:

english

Fichier:

PDF, 1.43 MB

english, 1985

SNP Variants inRETandPAX2and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype

Coulter-Mackie, Marion B.

Journal:

Biochemical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 237 KB

english, 2015

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

Rodenhiser, David I., Coulter-Mackie, Marion B., Singh, Shiva M.

Journal:

Human Molecular Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 3.28 MB

english, 1993

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy

Alfadhel, Majid, Sirrs, Sandra, Waters, Paula J., Szeitz, András, Struys, Eduard, Coulter-Mackie, Marion, Stockler-Ipsiroglu, Sylvia

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Année:

2012

Fichier:

PDF, 102 KB

2012

In vivo and in vitro Models of Demyelinating Diseases

Massalski, Andrew, Coulter-Mackie, Marion, Knobler, Robert L., Buchmeier, Michael J., Dales, Samuel

Journal:

Intervirology

Année:

1982

Langue:

english

Fichier:

PDF, 3.59 MB

english, 1982

Isolated Peripheral Neuropathy in Atypical Metachromatic Leukodystrophy: A Recurrent Mutation

Coulter-Mackie, Marion B., Applegarth, Derek A., Toone, Jennifer R., Gagnier, Liane, Anzarut, André R., Hendson, Glenda

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Année:

2002

Fichier:

PDF, 76 KB

2002