Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

מאת Jones, Julie M., Meisler, Miriam H.
יצא לאור 2013

Association between Grain Intake, Nutrient Intake, and Diet Quality of Canadians: Evidence from the Canadian Community Health Survey–Nutrition 2015

מאת Hosseini, Seyed H, Jones, Julie M, Vatanparast, Hassan
הוצא לאור ב Nutrients (2019)

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

מאת Sharkey, Lisa M., Jones, Julie M, Hedera, Peter, Meisler, Miriam H.
יצא לאור 2008

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

מאת Pal, Dinesh, Jones, Julie M., Wisidagamage, Stella, Meisler, Miriam H., Mashour, George A.
הוצא לאור ב PLoS One (2015)

RBFOX PROTEINS REGULATE ALTERNATIVE SPLICING OF NEURONAL SODIUM CHANNEL SCN8A

מאת O’Brien, Janelle E., Drews, Valerie L., Jones, Julie M., Dugas, Jason C., Barres, Ben A., Meisler, Miriam H.
יצא לאור 2011

Novel SCN1A mutation in a patient with Malignant Migrating Partial Seizures of Infancy

מאת Freilich, Emily R., Jones, Julie M., Reyes, Christine, Dib-Hajj, Sulayman, Waxman, Stephen G., Meisler, Miriam H., Pearl, Phillip L.
יצא לאור 2011

A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse

מאת Howell, Viive M., de Haan, Georgius, Bergren, Sarah, Jones, Julie M., Culiat, Cymbeline T., Michaud, Edward J., Frankel, Wayne N., Meisler, Miriam H.
יצא לאור 2008

A null mutation of the neuronal sodium channel Na(V)1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart

מאת Noujaim, Sami F., Kaur, Kuljeet, Milstein, Michelle, Jones, Julie M., Furspan, Philip, Jiang, Daniel, Auerbach, David S., Herron, Todd, Meisler, Miriam H., Jalife, José
יצא לאור 2012

Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci

מאת He, Fang, Jones, Julie M., Figueroa-Romero, Claudia, Zhang, Dapeng, Feldman, Eva L., Goutman, Stephen A., Meisler, Miriam H., Callaghan, Brian C., Todd, Peter K.
הוצא לאור ב Neurol Genet (2016)

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

מאת Papale, Ligia A., Beyer, Barbara, Jones, Julie M., Sharkey, Lisa M., Tufik, Sergio, Epstein, Michael, Letts, Verity A., Meisler, Miriam H., Frankel, Wayne N., Escayg, Andrew
יצא לאור 2009

The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Na(v)1.6 Disrupts Intracellular Trafficking

מאת Sharkey, Lisa M., Cheng, Xiaoyang, Drews, Valerie, Buchner, David A., Jones, Julie M., Justice, Monica J., Waxman, Stephen G., Dib-Hajj, Sulayman D., Meisler, Miriam H.
יצא לאור 2009

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

מאת Wagnon, Jacy L., Korn, Matthew J., Parent, Rachel, Tarpey, Taylor A., Jones, Julie M., Hammer, Michael F., Murphy, Geoffrey G., Parent, Jack M., Meisler, Miriam H.
הוצא לאור ב Hum Mol Genet (2015)

C9ORF72 expansion in a family with bipolar disorder

מאת Meisler, Miriam H, Grant, Adrienne E, Jones, Julie M, Lenk, Guy M, He, Fang, Todd, Peter K, Kamali, Masoud, Albin, Roger L, Lieberman, Andrew P, Langenecker, Scott A, McInnis, Melvin G
יצא לאור 2013

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J

מאת Lenk, Guy M., Ferguson, Cole J., Chow, Clement Y., Jin, Natsuko, Jones, Julie M., Grant, Adrienne E., Zolov, Sergey N., Winters, Jesse J., Giger, Roman J., Dowling, James J., Weisman, Lois S., Meisler, Miriam H.
יצא לאור 2011

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

מאת Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H.
יצא לאור 2009

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

מאת Bunton-Stasyshyn, Rosie K A, Wagnon, Jacy L, Wengert, Eric R, Barker, Bryan S, Faulkner, Alexa, Wagley, Pravin K, Bhatia, Kritika, Jones, Julie M, Maniaci, Marissa R, Parent, Jack M, Goodkin, Howard P, Patel, Manoj K, Meisler, Miriam H
הוצא לאור ב Brain (2019)

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Na(v)1.6) in a mouse mutant with a chronic movement disorder

מאת Jones, Julie M., Dionne, Louise, Dell’Orco, James, Parent, Rachel, Krueger, Jamie N., Cheng, Xiaoyang, Dib-Hajj, Sulayman D., Bunton-Stasyshyn, Rosie K., Sharkey, Lisa M., Dowling, James J., Murphy, Geoffrey G., Shakkottai, Vikram G., Shrager, Peter, Meisler, Miriam H.
הוצא לאור ב Neurobiol Dis (2016)

DRAVET SYNDROME PATIENT-DERIVED NEURONS SUGGEST A NOVEL EPILEPSY MECHANISM

מאת Liu, Yu, Lopez-Santiago, Luis F., Yuan, Yukun, Jones, Julie M., Zhang, Helen, O’Malley, Heather A., Patino, Gustavo A., O’Brien, Janelle E., Rusconi, Raffaella, Gupta, Ajay, Thompson, Robert C., Natowicz, Marvin R., Meisler, Miriam H., Isom, Lori L., Parent, Jack M.
יצא לאור 2013

Hair Cell Loss, Spiral Ganglion Degeneration, and Progressive Sensorineural Hearing Loss in Mice with Targeted Deletion of Slc44a2/Ctl2

מאת Kommareddi, Pavan, Nair, Thankam, Kakaraparthi, Bala Naveen, Galano, Maria M., Miller, Danielle, Laczkovich, Irina, Thomas, Trey, Lu, Lillian, Rule, Kelli, Kabara, Lisa, Kanicki, Ariane, Hughes, Elizabeth D., Jones, Julie M., Hoenerhoff, Mark, Fisher, Susan G., Altschuler, Richard A., Dolan, David, Kohrman, David C., Saunders, Thomas L., Carey, Thomas E.
הוצא לאור ב J Assoc Res Otolaryngol (2015)