Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acid Ceramidase Expression Modulates the Sensitivity of A375 Melanoma Cells to Dacarbazine

(2011) Carmen Bedia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PROGRESSIVE MYOCLONUS EPILEPSY

(2010) M. Koskiniemi et al.   ACTA NEUROLOGICA SCANDINAVICA

A simple fluorogenic method for determination of acid ceramidase activity and diagnosis of Farber disease

(2010) Carmen Bedia et al.   JOURNAL OF LIPID RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH