Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
about
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family.Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.Sphingolipids: membrane microdomains in brain development, function and neurological diseases.C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.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.Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
P2860
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P2860
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
description
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Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@en
Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@nl
type
label
Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@en
Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@nl
prefLabel
Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@en
Evidence for clinical, genetic ...... rogressive myoclonic epilepsy.
@nl
P2093
P2860
P50
P356
P1433
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Evidence for clinical, genetic ...... progressive myoclonic epilepsy
@en
P2093
C L Beaulieu
D A Dyment
D E Bulman
D Garandeau
E Le Trionnaire
FORGE Canada Consortium
J Majewski
K M Boycott
P2860
P304
P356
10.1111/CGE.12307
P577
2013-11-21T00:00:00Z