Gaucher disease and the synucleinopathies: refining the relationship

por Campbell, Tessa N, Choy, Francis YM
Publicado 2012

Gaucher Disease and Cancer: Concept and Controversy

por Choy, Francis Y. M., Campbell, Tessa N.
Publicado 2011

Progranulin as a Novel Factor in Gaucher Disease

por Choy, Francis Y.M., Christensen, Chloe L.
Publicado en EBioMedicine (2016)

A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells

por Christensen, Chloe L., Choy, Francis Y. M.
Publicado en Diseases (2017)

Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes

por Kimball, Samantha, Choy, Francis, Zay, Agnes, Amato, Dominick
Publicado 2011

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS

por Christensen, Chloe L., Ashmead, Rhea E., Choy, Francis Y. M.
Publicado en Diseases (2019)

Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S()

por Hoitsema, Kourtnee, Amato, Dominick, Khan, Aneal, Sirrs, Sandra, Choy, Francis Y.M.
Publicado en Meta Gene (2016)