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

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

(2013) D.A. Dyment et al.   CLINICAL 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

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

(2011) Guido Rubboli et al.   EPILEPSIA

Autologous Transplantation of Lentivector/Acid Ceramidase–Transduced Hematopoietic Cells in Nonhuman Primates

(2011) Jagdeep S. Walia et al.   HUMAN GENE THERAPY

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

(2010) Veronica Crugnola et al.   ARCHIVES OF NEUROLOGY

A rare phenotype: Progresive myoclonic epilepsy with lower motor neuron involvement

(2008) Cagri Mesut Temucin et al.   EPILEPSIA