Miriam H. Meisler

Research.com Recognitions

• 2001 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Best Publications

• Guidelines for the use and interpretation of assays for monitoring autophagy

  Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  8665
  Citations

• Nomenclature of voltage-gated sodium channels.

  Alan L. Goldin;Robert L. Barchi;John H. Caldwell;Franz Hofmann

  1451
  Citations

• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

  Andrew Escayg;Bryan T. MacDonald;Miriam H. Meisler;Stéphanie Baulac

  1269
  Citations

• Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

  Clement Y. Chow;Yanling Zhang;James J. Dowling;Natsuko Jin

  564
  Citations

• Mutation of the Ca2+ Channel β Subunit Gene Cchb4 Is Associated with Ataxia and Seizures in the Lethargic (lh) Mouse

  Daniel L Burgess;Julie M Jones;Miriam H Meisler;Jeffrey L Noebels

  534
  Citations

• Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

  Andrew Escayg;Michel De Waard;David D. Lee;Delphine Bichet

  526
  Citations

• Clinical application of exome sequencing in undiagnosed genetic conditions

  Anna C Need;Vandana Shashi;Yuki Hitomi;Kelly Schoch

  494
  Citations

• De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

  Krishna R. Veeramah;Janelle E. O'Brien;Miriam H. Meisler;Xiaoyang Cheng

  483
  Citations

• Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

  Julie M. Jones;Pinaki Datta;Srinivasa M. Srinivasula;Weizhen Ji

  456
  Citations

• A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

  Andrew Escayg;Armin Heils;Bryan T. MacDonald;Karsten Haug

  383
  Citations

• Endogenous retroviral sequences are required for tissue-specific expression of a human salivary amylase gene.

  Chao-Nan Ting;M. P. Rosenberg;C. M. Snow;L. C. Samuelson

  380
  Citations

• Functional Analysis of the Mouse Scn8a Sodium Channel

  Marianne R. Smith;Raymond D. Smith;Nicholas W. Plummer;Miriam H. Meisler

  366
  Citations

• D1/D5 Dopamine Receptor Activation Differentially Modulates Rapidly Inactivating and Persistent Sodium Currents in Prefrontal Cortex Pyramidal Neurons

  Nicolas Maurice;Tatiana Tkatch;Miriam Meisler;Leslie K. Sprunger

  319
  Citations

• Evolution and Diversity of Mammalian Sodium Channel Genes

  Nicholas W. Plummer;Miriam H. Meisler

  299
  Citations

• VAC14 Nucleates a Protein Complex Essential for the Acute Interconversion of PI3P and PI(3,5)P2 in Yeast and Mouse

  Natsuko Jin;Clement Y Chow;Li Liu;Sergey N Zolov

  297
  Citations

• International System for Human Gene Nomenclature (1979) ISGN (1979)

  T B Shows;C A Alper;D Bootsma;M Dorf

  268
  Citations

• Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

  Melinda S. Martin;Karoni Dutt;Ligia Assumpção Papale;Ligia Assumpção Papale;Celine M. Dube

  257
  Citations

• Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

  Michelle M. Trudeau;Joline C. Dalton;John W. Day;Laura P. W. Ranum

  257
  Citations

• Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice

  Yanling Zhang;Sergey N. Zolov;Clement Y. Chow;Shalom G. Slutsky

  245
  Citations

• Functional Effects of Two Voltage-Gated Sodium Channel Mutations That Cause Generalized Epilepsy with Febrile Seizures Plus Type 2

  Jay Spampanato;Andrew Escayg;Miriam H. Meisler;Alan L. Goldin

  244
  Citations