David A. Priestman

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 381 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling

David C. A. Neville, Virginie Coquard, David A. Priestman et al. · Analytical Biochemistry · 2004 · 175 citations

Bioorganic Chemistry, Biochemistry, Anthranilic Acid Labeling +11

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

Thomas Kirkegaard, James Gray, David A. Priestman et al. · Science Translational Medicine · 2016 · 172 citations

Potential Candidate, Proteinlipid Interaction, Thermal Therapy +20

Fetal gene therapy for neurodegenerative disease of infants

Giulia Massaro, Citra Nurfarah Zaini Mattar, Andrew M.S. Wong et al. · Nature Medicine · 2018 · 162 citations · Full text

Gene Therapies, Neurodegenerative Diseases, Medicine +8

Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease

Mylene Huebecker, Elizabeth B. Moloney, Aarnoud C. van der Spoel et al. · Molecular Neurodegeneration · 2019 · 162 citations · Full text