S. Pimstone

发表

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

M. Hayden, R. Moon, M. Trese, 2002, Nature Genetics.

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia.

M. Hayden, M. Trip, J. Kastelein, 1999, Arteriosclerosis, thrombosis, and vascular biology.

TMS as a pharmacodynamic indicator of cortical activity of a novel anti‐epileptic drug, XEN1101

E. Abela, M. Richardson, I. Premoli, 2019, Annals of clinical and translational neurology.

Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes.

P. Talmud, J. Ansquer, J. Kastelein, 2004, Pharmacogenetics.

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers.

M. Hayden, E. Stein, L. Miao, 1996, Journal of lipid research.

Premature Atherosclerotic Cardiovascular Disease: Trends in Incidence, Risk Factors, and Sex‐Related Differences, 2000 to 2016

Yinshan Zhao, K. Humphries, S. Pimstone, 2019, Journal of the American Heart Association.

NBI-921352, a first-in-class, NaV1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats

Angela Hussainkhel, S. Decker, Matthew Waldbrook, 2021, bioRxiv.

The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia

D. Stein, R. Emsley, M. Hayden, 2001, Schizophrenia Research.

Clinical Phenotype of Familial Hypercholesterolemia A Frequent Mutation in the Lipoprotein Lipase Gene ( D 9 N ) Deteriorates the Biochemical

M. Hayden, M. Trip, J. Kastelein, 1999 .

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

M. Hayden, Y. P. Goldberg, S. Pimstone, 2012, Clinical genetics.

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.

M. Hayden, M. Prins, J. Kastelein, 1998, Circulation.

Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.

D. Gaudet, M. Hayden, J. Kastelein, 1995, Arteriosclerosis, thrombosis, and vascular biology.

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

M. Hayden, J. Kastelein, S. Pimstone, 1997, Arteriosclerosis, thrombosis, and vascular biology.

MED-PED: An Integrated Genetic Strategy for Preventing Early Deaths

S. Humphries, M. Hayden, R. Lees, 1996 .

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy

T. Wieland, T. Meitinger, T. Strom, 2017, Circulation. Cardiovascular genetics.

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

M. Hayden, X. Breakefield, B. Brais, 2004, American journal of human genetics.

Lipid-lowering therapy for primary prevention of premature atherosclerotic coronary artery disease: Eligibility, utilization, target achievement, and predictors of initiation

G. Francis, G. Mancini, C. Fordyce, 2020, American journal of preventive cardiology.

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.

M. Hayden, A. Soutar, J. Frohlich, 1998, Arteriosclerosis, thrombosis, and vascular biology.

Safety and Efficacy of a Topical Sodium Channel Inhibitor (TV-45070) in Patients With Postherpetic Neuralgia (PHN)

Y. P. Goldberg, R. Malamut, S. Pimstone, 2017, The Clinical journal of pain.

Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.

G. Mancini, S. Pimstone, L. Brunham, 2021, Atherosclerosis.

CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia

R. Emsley, M. Hayden, J. Mallet, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.

M. Hammer, J. Schreiber, E. Aycardi, 2022, Seizure.

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey

C. Harden, E. Aycardi, D. Haubenberger, 2021, Seizure.

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

J. Boer, P. Wilson, M. Hayden, 1999, Clinical genetics.

Treatment of Nav1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker

M. Hayden, Y. P. Goldberg, S. Pimstone, 2012, PAIN.

Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population.

M. Hayden, J. Frohlich, S. Pimstone, 2001, Atherosclerosis.

Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene.

M. Hayden, J. Ordovás, J. Kastelein, 1997, Arteriosclerosis, thrombosis, and vascular biology.

Genetic aspects of restenosis after percutaneous coronary interventions: towards more tailored therapy.

J. Jukema, J. Kastelein, S. Pimstone, 2001, European heart journal.

The design and rationale of SAVE BC: The Study to Avoid CardioVascular Events in British Columbia

B. McManus, G. Francis, J. Leipsic, 2018, Clinical cardiology.

Familial Hypercholesterolemia, Familial Combined Hyperlipidemia and Elevated Lipoprotein(a) in Patients with Premature Coronary Artery Disease.

G. Mancini, S. Pimstone, L. Brunham, 2021, The Canadian journal of cardiology.

Capturing seizures in clinical trials of antiseizure medications for KCNQ2‐DEE

C. Harden, J. French, J. Millichap, 2021, Epilepsia open.

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele.

M. Hayden, J. Frohlich, S. Pimstone, 1997, Atherosclerosis.

Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

M. Dubé, D. Bowsher, E. Boltshauser, 2007, Clinical genetics.

Letter to the Editor

Y. P. Goldberg, S. Pimstone, R. Sherrington, 2014, PAIN®.

Longitudinal Control of Lipid Levels in Patients With Premature Coronary Artery Disease

S. Pimstone, L. Brunham, D. Vikulova, 2023, JACC. Advances.

The Importance of Nontraditional and Sex-Specific Risk Factors in Young Women With Vasomotor Nonobstructive vs Obstructive Coronary Syndromes

S. Pimstone, L. Brunham, D. Vikulova, 2023, CJC open.