Sodium channel mutations in epilepsy and other neurological disorders

Por Meisler, Miriam H., Kearney, Jennifer A.
Publicado em 2005

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

Por Jones, Julie M., Meisler, Miriam H.
Publicado em 2013

Mouse models of PI(3,5)P(2) deficiency with impaired lysosome function

Por Lenk, Guy M., Meisler, Miriam H.
Publicado em 2014

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

Por Wagnon, Jacy L., Meisler, Miriam H.
Publicado no Front Neurol (2015)

Sodium channel SCN8A (Na(v)1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

Por O'Brien, Janelle E., Meisler, Miriam H.
Publicado em 2013

Cooperation of Pax2 and Pax5 in midbrain and cerebellum development

Por Urbánek, Pavel, Fetka, Ingrid, Meisler, Miriam H., Busslinger, Meinrad
Publicado em 1997

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P(2)

Por Ferguson, Cole J., Lenk, Guy M., Meisler, Miriam H.
Publicado em 2009

IDENTIFICATION OF EPILEPSY GENES IN HUMAN AND MOUSE

Por Meisler, Miriam H., Kearney, Jennifer, Ottman, Ruth, Escayg, Andrew
Publicado em 2001

PtdIns(3,5)P(2) and autophagy in mouse models of neurodegeneration

Por Ferguson, Cole J., Lenk, Guy M., Meisler, Miriam H.
Publicado em 2010

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

Por Meisler, Miriam H, O’Brien, Janelle E, Sharkey, Lisa M
Publicado em 2010

Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A

Por Drews, Valerie L., Shi, Kehui, de Haan, Georgius, Meisler, Miriam H.
Publicado em 2007

Evaluation of SCN8A as a Candidate Gene for Autosomal Dominant Essential Tremor

Por Sharkey, Lisa M., Jones, Julie M, Hedera, Peter, Meisler, Miriam H.
Publicado em 2008

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

Por Catterall, William A., Dib-Hajj, Sulayman, Meisler, Miriam H., Pietrobon, Daniela
Publicado em 2008

Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells

Por Osorio, Nancy, Cathala, Laurence, Meisler, Miriam H, Crest, Marcel, Magistretti, Jacopo, Delmas, Patrick
Publicado em 2010

Exaggerated emotional behavior in mice heterozygous for the sodium channel Scn8a (Na(v)1.6)

Por McKinney, Brandon C., Chow, Clement Y., Meisler, Miriam H., Murphy, Geoffrey G.
Publicado em 2008

Reduced Na(v)1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics

Por Pal, Dinesh, Jones, Julie M., Wisidagamage, Stella, Meisler, Miriam H., Mashour, George A.
Publicado no PLoS One (2015)

A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy

Por Escayg, Andrew, Heils, Armin, MacDonald, Bryan T., Haug, Karsten, Sander, Thomas, Meisler, Miriam H.
Publicado em 2001

Comparative Sequence of Human and Mouse BAC Clones from the mnd2 Region of Chromosome 2p13

Por Jang, Wonhee, Hua, Axin, Spilson, Sandra V., Miller, Webb, Roe, Bruce A., Meisler, Miriam H.
Publicado em 1999

Interstrain Variation in Amylase Gene Copy Number and mRNA Abundance in Three Mouse Tissues

Por Meisler, Miriam H., Antonucci, Tammy K., Treisman, Laurelee O., Gumucio, Deborah L., Samuelson, Linda C.
Publicado em 1986

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

Por Zhang, Xuebao, Chow, Clement Y., Sahenk, Zarife, Shy, Michael E., Meisler, Miriam H., Li, Jun
Publicado em 2008