2021
Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptoms
2020
Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality
Eid K, McClain M, Mengel E, Mistry P, Baris-Feldman H. Delineating D409H (D448H) homozygous phenotype-genotype in an international cohort of the International Collaborative Gaucher Group Gaucher Registry: Cardiac involvement and early mortality. Molecular Genetics And Metabolism 2020, 129: s52-s53. DOI: 10.1016/j.ymgme.2019.11.117.Peer-Reviewed Original Research