Wuh‐Liang Hwu

Recombinant human acid α-glucosidase

Priya S. Kishnani, Deya Corzo, Marc Nicolino et al. · Neurology · 2006 · 759 citations · Full text

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 602 citations · Full text

Spinal Disorder, Pediatrics, Nurture Study +7

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh‐Liang Hwu, Hanna Mandel et al. · The Journal of Pediatrics · 2006 · 578 citations

Pathogenesis, Natural History, Pediatrics +3

Biparental Inheritance of Mitochondrial DNA in Humans

Shiyu Luo, C. Alexander Valencia, Jinglan Zhang et al. · Proceedings of the National Academy of Sciences · 2018 · 445 citations · Full text

PSORS2 Is Due to Mutations in CARD14

Catherine T. Jordan, Li Cao, Elisha Roberson et al. · The American Journal of Human Genetics · 2012 · 411 citations · Full text

Genetic Disorder, Medicine, Genetics +4