2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
Rabin R, Hirsch Y, Booth K, Hall P, Yachelevich N, Mistry P, Ekstein J, Pappas J. ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry. American Journal Of Medical Genetics Part A 2024, e63919. PMID: 39473378, DOI: 10.1002/ajmg.a.63919.Peer-Reviewed Original ResearchIndividuals of Ashkenazi Jewish descentAshkenazi Jewish descentARSA geneIndividuals of Ashkenazi Jewish ancestryFounder variantAshkenazi Jewish populationJewish descentAshkenazi Jewish ancestryBi-allelic pathogenic variantsCompound heterozygous stateNeurodegenerative lysosomal storage diseaseGait abnormalitiesPhysical declineScreening programProtein modelsMetachromatic leukodystrophyPathogenic variantsJewish ancestryCompound heterozygosityLysosomal storage diseaseGenesArsAHeterozygous stateSevere phenotypeLate infantile metachromatic leukodystrophy
2022
eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry
Pappas J, Rabin R, Mistry P, Hirsch Y, Yachelevich N. eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry. Genetics In Medicine 2022, 24: s127-s128. DOI: 10.1016/j.gim.2022.01.242.Peer-Reviewed Original Research