• Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
• Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content
• ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype
• Hereditary myoclonus and progressive distal muscular atrophy
• Hereditary myoclonus and progressive muscular atrophy: a new syndrome
• Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
• Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency
• The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile