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

No abstract is available for this paper.

• Publication year

  2016

• Venue

  European Journal of Human Genetics

• Publication date

  2016-03-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/ejhg.2016.28PMID 27026573PMCID PMC5110045
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1

  2015cited by this paper
• 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.

  2015cited by this paper
• Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

  2014cited by this paper
• Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

  2014cited by this paper
• The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

  2013cited by this paper
• Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

  2012cited by this paper
• Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice

  2008cited by this paper
• Ceramide and sphingomyelin species of fibroblasts and neurons in culture Published, JLR Papers in Press, November 8, 2006.

  2007cited by this paper
• An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.

  2006cited by this paper
• Characterization and prediction of alternative splice sites.

  2006cited by this paper
• Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature

  2002cited by this paper
• The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.

  1999cited by this paper
• Purification, characterization, and biosynthesis of human acid ceramidase

  1995cited by this paper
• Formation of free sphingosine and ceramide from exogenous ganglioside GM1 by cerebellar granule cells in culture

  1992cited by this paper
• Leukocyte and plasma N‐laurylsphingosine deacylase (ceramidase) in Farber disease

  1989cited by this paper

• Inhibition of acid sphingomyelinase increases SMN levels and connects sphingolipid metabolism to Spinal Muscular Atrophy.

  2025cites this paper
• A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy

  2025influential citation
• Acid Ceramidase Deficiency

  2025cites this paper
• Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients

  2024cites this paper
• Cardiac dysfunction and altered gene expression in acid ceramidase deficient mice.

  2024cites this paper
• Recent Insight into the Role of Sphingosine-1-Phosphate Lyase in Neurodegeneration

  2023cites this paper
• Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

  2023cites this paper
• Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

  2023cites this paper
• Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

  2023influential citation
• Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

  2022cites this paper
• The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

  2022cites this paper
• Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency

  2021cites this paper
• A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease

  2021cites this paper
• ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

  2020influential citation
• ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

  2020cites this paper
• Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content

  2020influential citation
• A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

  2019cites this paper
• Pathological manifestations of Farber disease in a new mouse model

  2018cites this paper
• A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

  2018cites this paper
• Acid ceramidase deficiency: Farber disease and SMA-PME

  2018cites this paper
• Epilepsy genetics: Current knowledge, applications, and future directions

  2018cites this paper
• Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

  2017cites this paper
• Motor neuron disease in inherited neurometabolic disorders.

  2017cites this paper
• The clinical spectrum of SMA-PME and in vitro normalization of The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile its cellular ceramide profile

  year unknowninfluential citation