Julie M. Jones

发表

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

M. Meisler, J. Dowling, L. Weisman, 2011, PLoS genetics.

The More, the Better: Modeling Dravet Syndrome With Induced Pluripotent Stem Cell-Derived Neurons

Robert C. Thompson, J. Parent, M. Meisler, 2014 .

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Robert H. Brown, J. Landers, M. Meisler, 2009, American journal of human genetics.

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

T. Carey, S. Fisher, M. Hoenerhoff, 2015, Journal of the Association for Research in Otolaryngology.

Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).

S. I. Levin, R. Albin, G. de Haan, 2002, Human molecular genetics.

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

A. Lengeling, M. Meisler, H. Jockusch, 2005, Nature Genetics.

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

S. Dib-Hajj, S. Waxman, W. Gaillard, 2011, Archives of neurology.

Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.

M. Meisler, P. Hedera, L. Sharkey, 2009, Parkinsonism & related disorders.

Deleterious Variants of FIG 4 , a Phosphoinositide Phosphatase , in Patients with ALS Citation

Robert H. Brown, J. Landers, M. Meisler, 2008 .

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

Jacy L. Wagnon, H. Goodkin, J. Parent, 2019, Brain : a journal of neurology.

Identification of genes within the Krd deletion on mouse Chromosome 19

N. Copeland, D. Gilbert, N. Jenkins, 1999, Mammalian Genome.

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

M. Meisler, J. Noebels, D. Burgess, 1997, Cell.

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

B. Barres, M. Meisler, Julie M. Jones, 2012, Molecular and Cellular Neuroscience.

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

S. Srinivasula, E. Alnemri, W. Ji, 2003, Nature.

Fang He, Phd Screening for Novel Hexanucleotide Repeat Expansions at Als-and Ftd-associated Loci Results: Expansions of G 4 C 2 Repeats in C9orf72 Explained 8.8% of Sporadic and 47% of Familial

Stephen A. Goutman, M. Meisler, E. Feldman, 2022 .

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

Peter K. Todd, Stephen A. Goutman, M. Meisler, 2016, Neurology: Genetics.

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

W. Frankel, S. Tufik, M. Meisler, 2009, Human molecular genetics.

Evidence for a direct role of the disease modifier SCNM1 in splicing.

M. Meisler, Sarah K. Bergren, M. Avenarius, 2007, Human molecular genetics.

Isolation of Mutated Genes from Transgene Insertion Sites

M. Meisler, D. Burgess, Julie M. Jones, 1998 .

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

Jacy L. Wagnon, M. Hammer, J. Parent, 2014, Human molecular genetics.

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

M. Meisler, Julie M. Jones, 2014, Genesis.

C9ORF72 expansion in a family with bipolar disorder

Peter K. Todd, M. McInnis, S. Langenecker, 2013, Bipolar disorders.

A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation‐contraction coupling in the mouse heart

J. Jalife, M. Meisler, K. Kaur, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

M. Meisler, D. Burgess, Julie M. Jones, 1995, Nature Genetics.

Insertional mutation of the hairless locus on mouse Chromosome 14

James T. Elder, M. Meisler, K. Simin, 1993, Mammalian Genome.

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

Brittany C. Clawson, K. Yamakawa, J. Parent, 2013, PloS one.

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder

S. Dib-Hajj, M. Meisler, J. Dowling, 2016, Neurobiology of Disease.

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

W. Frankel, G. de Haan, M. Meisler, 2008, Genetics.

Calcium channel β4 (CACNB4): Human ortholog of the mouse epilepsy gene lethargic

M. Meisler, Julie M. Jones, P. Hitchcock, 1998 .

Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics

G. Mashour, M. Meisler, D. Pal, 2015, PloS one.

The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a.

N. Copeland, N. Jenkins, M. Meisler, 2000, Human molecular genetics.

Angioedema in a 47-Year-Old Woman With Hypocomplementemic Urticarial Vasculitis Syndrome

Julie M. Jones, Deena G. Raval, K. Reich, 2012, The Journal of the American Osteopathic Association.

Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism

Robert C. Thompson, J. Parent, M. Meisler, 2013, Annals of neurology.

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

M. Meisler, J. Dowling, G. Lenk, 2012, Human molecular genetics.

The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking

M. Justice, S. Dib-Hajj, S. Waxman, 2009, The Journal of Neuroscience.

mnd2: a new mouse model of inherited motor neuron disease.

R. Albin, B. Taylor, M. Meisler, 1993, Genomics.

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.

S. Dib-Hajj, S. Waxman, W. Gaillard, 2011, Archives of neurology.

Abstract 12747: A Null Mutation of the Neuronal Sodium Channel Isoform Nav1.6 Disrupts Action Potential Propagation and EC Coupling in the Mouse Heart

J. Jalife, M. Meisler, K. Kaur, 2010 .