R. Casey

发表

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

W. Robinson, A. Schinzel, M. Petersen, 1999, American journal of medical genetics.

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

J. Oliveira, W. Hwu, D. Warnock, 2010, Clinica chimica acta; international journal of clinical chemistry.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

H. Moser, A. Moser, C. Zeiss, 2002, American journal of human genetics.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

F. Bernier, J. Parboosingh, P. Bridge, 2005, Journal of Medical Genetics.

In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.

Aneal Khan, S. Boyd, B. Ramage, 2013, JIMD reports.

Outcomes of patients treated through the Canadian Fabry disease initiative.

S. Doucette, D. Bichet, S. Sirrs, 2014, Molecular genetics and metabolism.

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

P. Fernhoff, G. Mitchell, O. Bodamer, 2008, Molecular genetics and metabolism.

Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)

G. Francis, R. Hegele, H. Cao, 2006, BMC Medical Genetics.

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype [Letter To Jmg]

S. Warren, A. Taylor, G. Fisch, 2005 .

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

F. Bamforth, P. Chakraborty, J. Callahan, 2007, Molecular genetics and metabolism.

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

B. Robinson, P. Goodyer, J. Oei, 1984, American journal of human genetics.

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Z. Tümer, J. Christodoulou, D. Danks, 1998, American journal of medical genetics.

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

S. Stockler, L. Clarke, A. Chan, 2012, Journal of Inherited Metabolic Disease.

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

D. Bichet, D. Sinasac, S. Sirrs, 2010, Molecular genetics and metabolism.

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

E. Hoffman, C. Angelini, E. Pegoraro, 1999, Human molecular genetics.

Niemann Pick C: First Case in a Canadian Nakoda Nation Child

Aneal Khan, X. Wei, Colleen Curtis, 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: “Mitochondrial angiopathy”

Aneal Khan, H. Sarnat, R. Casey, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.

Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.

P. Kishnani, R. Casey, S. Banugaria, 2010, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

“From Sheep to Babe” - Menkes Disease

J. Mah, R. Casey, A. Ho, 2003, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

J. Clancy, J. Charrow, C. Tifft, 2015, Neuromuscular Disorders.

A unique patient with an Ullrich–Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q

A. Dawson, D. Riordan, R. Casey, 2004, American Journal of Medical Genetics. Part A.

Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.

D. Bichet, D. Sinasac, S. Sirrs, 2010, Molecular genetics and metabolism.