Ami M. Perri
Toronto, ON M5G0A4, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 11 publications
Mesenchymal Stromal Cells Isolated From Patients With Congenital Heart Disease Reveal an Age-Dependent Proinflammatory Phenotype.
Journal: JACC. Advances
Published: August 26, 2022
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Journal: Brain : a journal of neurology
Published: October 29, 2021
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Journal: Annals of clinical and translational neurology
Published: August 31, 2020
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice.
Journal: The Journal of biological chemistry
Published: August 26, 2020
Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.
Journal: Journal of neurochemistry
Published: March 28, 2020
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Journal: Cell reports
Published: December 04, 2018
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
Journal: EMBO molecular medicine
Published: May 25, 2017
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Journal: BMC medical genomics
Published: August 11, 2015
Genetic structure of Kurtzmaniella cleridarum, a cactus flower beetle yeast of the Sonoran and Mojave Deserts: speciation by distance?
Journal: FEMS yeast research
Published: May 09, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026