Miriam H Meisler
Myron Levine Distinguished University Professor of Human Genetics
Professor of Human Genetics
Professor of Neurology
[email protected]

Available to mentor
Miriam H Meisler
Professor
  • Center Memberships
  • Recent Publications
    • Center Memberships
    • Center Member
      Center for Cell Plasticity and Organ Design
    Recent Publications See All Publications
    • Journal Article
      Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.
      Yu W, Hill SF, Zhu L, Demetriou Y, Reger F, Mattis J, Meisler MH. Neurobiol Dis, 2024 Sep; 199: 106591 DOI:10.1016/j.nbd.2024.106591
      PMID: 38969233
    • Journal Article
      A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants.
      Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. HGG Adv, 2024 Jul 18; 5 (3): 100324 DOI:10.1016/j.xhgg.2024.100324
      PMID: 38956874
    • Journal Article
      Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
      Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Genet Med, 2024 May; 26 (5): 101097 DOI:10.1016/j.gim.2024.101097
      PMID: 38334070
    • Chapter
      Sodium Channelopathies in Human and Animal Models of Epilepsy and Neurodevelopmental Disorders
      Yamakawa K, Meisler MH, Isom LL. 2024 May; Jasper's Basic Mechanisms of the Epilepsies, 881 - 920. DOI:10.1093/med/9780197549469.003.0044
    • Journal Article
      Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.
      Hill SF, Yu W, Ziobro J, Chalasani S, Reger F, Meisler MH. Ann Neurol, 2024 Apr; 95 (4): 754 - 759. DOI:10.1002/ana.26861
      PMID: 38113311
    • Preprint
      Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.
      Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. 2024 Mar 27; DOI:10.1101/2024.03.25.586600
      PMID: 38585737
    • Journal Article
      Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.
      Yu W, Hill SF, Huang Y, Zhu L, Demetriou Y, Ziobro J, Reger F, Jia X, Mattis J, Meisler MH. Ann Neurol, 2024 Aug 19; DOI:10.1002/ana.27053
      PMID: 39158034
    • Journal Article
      Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
      Cao X, Lenk GM, Meisler MH. G3 (Bethesda), 2023 Aug 9; 13 (8): DOI:10.1093/g3journal/jkad007
      PMID: 36691351