ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

(2015) Guido Rubboli et al.   EPILEPSIA

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

(2015) Beatriz G. Giráldez et al.   NEUROMUSCULAR DISORDERS

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

(2013) D.A. Dyment et al.   CLINICAL GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   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

Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease

(2010) Y. Ben-Yoseph et al.   CLINICAL GENETICS

Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice

(2008) Federica Scandroglio et al.   JOURNAL OF NEUROCHEMISTRY