Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family.Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesApplication of next-generation sequencing technologies in Neurology.Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosisTruncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.Mechanistic principles of antisense targets for the treatment of spinal muscular atrophyHunting human disease genes: lessons from the past, challenges for the future.Next-generation sequencing in understanding complex neurological diseaseMutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.Sphingolipids: membrane microdomains in brain development, function and neurological diseases.Identification of ASAH1 as a susceptibility gene for familial keloids.Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.Long-lasting antinociceptive effects of green light in acute and chronic pain in rats.Meeting summary: Ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013.Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.Nervous system involvement in Farber disease.Structural basis for the activation of acid ceramidase.
P2860
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P2860
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@ast
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@en
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@nl
type
label
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@ast
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@en
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@nl
prefLabel
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@ast
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@en
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@nl
P2093
P2860
P50
P1476
Spinal muscular atrophy associ ...... s caused by mutations in ASAH1
@en
P2093
Francesco Danilo Tiziano
Judith Melki
Julien Veillet
Marcel Tawk
Monica Bayes
Serenella Servidei
Stéphane Carpentier
Thierry Levade
P2860
P356
10.1016/J.AJHG.2012.05.001
P407
P577
2012-07-13T00:00:00Z