Louise R. Simard

Winnipeg, MB, Canada

Last Updated: 09/26/2026

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Found 12 publications

Generation of Conditional Knockout Alleles for PRUNE-1.

Generation of Conditional Knockout Alleles for PRUNE-1.

Journal: Cells

Published: January 17, 2023

Constraining the Side Chain of C-Terminal Amino Acids in Apelin-13 Greatly Increases Affinity, Modulates Signaling, and Improves the Pharmacokinetic Profile.

Constraining the Side Chain of C-Terminal Amino Acids in Apelin-13 Greatly Increases Affinity, Modulates Signaling, and Improves the Pharmacokinetic Profile.

Journal: Journal of medicinal chemistry

Published: February 01, 2021

A National Spinal Muscular Atrophy Registry for Real-World Evidence.

A National Spinal Muscular Atrophy Registry for Real-World Evidence.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: June 05, 2020

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Journal: American journal of medical genetics. Part A

Published: July 31, 2018

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Journal: Muscle & nerve

Published: February 07, 2017

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Journal: Journal of medical genetics

Published: September 07, 2016

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Journal: Experimental neurology

Published: December 10, 2015

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Journal: Journal of neuromuscular diseases

Published: June 04, 2015

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Journal: BMC medical genetics

Published: January 11, 2015

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Journal: Journal of medical genetics

Published: September 26, 2013

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Journal: American journal of medical genetics. Part A

Published: July 28, 2013

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Journal: Muscle & nerve

Published: May 07, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026