Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.
Gedallovich J et al.
Journal of Hematopathology, 2025
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Eskes ECB et al.
Journal of Inherited Metabolic Disease, 2025
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
Hickey RE et al.
Journal of Inherited Metabolic Disease, 2024
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
GBA-associated Parkinson's disease in Hungary: clinical features and genetic insights.
Szlepák T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report.
Fata CR et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0