Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy-Reference-Cited by-同舟云学术

Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy

Published:2015-12 Issue:12 Volume:25 Page:959-963
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Gan Joanna J.,Garcia Virginie,Tian Jane,Tagliati Michele,Parisi Joseph E.,Chung Jeffrey M.,Lewis Richard,Baloh Robert,Levade Thierry,Pierson Tyler Mark

Funder

Cedars-Sinai Medical Center institutional funding

Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1;Zhou;Am J Hum Genet,2012

2. Acid ceramidase and human disease;Park;Biochim Biophys Acta,2006

3. The reverse activity of human acid ceramidase;Okino;J Biol Chem,2003

4. Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene;Alves;Mol Genet Metab,2013

5. Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy;Dyment;Clin Genet,2014

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