MIRIAM MEISLER

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
    Cole J Ferguson
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Hum Mol Genet 18:4868-78. 2009
  2. pmc Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
    Guy M Lenk
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    PLoS Genet 7:e1002104. 2011
  3. pmc C9ORF72 expansion in a family with bipolar disorder
    Miriam H Meisler
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 5618, USA
    Bipolar Disord 15:326-32. 2013
  4. pmc Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A
    Valerie L Drews
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109 0618, USA
    Mamm Genome 18:723-31. 2007
  5. ncbi request reprint Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan48109 0618, USA
    Amyotroph Lateral Scler 9:141-8. 2008
  6. ncbi request reprint Ion channel mutations in mouse models of inherited neurological disease
    M H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Ann Med 29:569-74. 1997
  7. ncbi request reprint Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Genetica 122:37-45. 2004
  8. ncbi request reprint Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520
    M H Meisler
    Department of Human Genetics, University of Michigan, 4909 Buhl, Box 0618, Ann Arbor, MI 48109 0618, USA
    Hum Genet 118:776. 2006
  9. pmc Sodium channel mutations in epilepsy and other neurological disorders
    Miriam H Meisler
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109 0618, USA
    J Clin Invest 115:2010-7. 2005
  10. ncbi request reprint Sodium channels and neurological disease: insights from Scn8a mutations in the mouse
    M H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Neuroscientist 7:136-45. 2001

Research Grants

  1. NEUROMUSCULAR DISEASE GENE ENCODING A NEW SODIUM CHANNEL
    MIRIAM MEISLER; Fiscal Year: 1999
  2. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2003
  3. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2002
  4. Gene interaction in development and disease
    Miriam H Meisler; Fiscal Year: 2010
  5. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1991
  6. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2002
  7. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2007
  8. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1993
  9. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1980
  10. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2005

Collaborators

Detail Information

Publications46

  1. pmc Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2
    Cole J Ferguson
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Hum Mol Genet 18:4868-78. 2009
    ..These results establish a role for PI(3,5)P(2) in autophagy in the mammalian central nervous system (CNS) and demonstrate that mutations affecting PI(3,5)P(2) can contribute to inclusion body disease...
  2. pmc Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
    Guy M Lenk
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    PLoS Genet 7:e1002104. 2011
    ..The transgenic model will be useful for testing in vivo interventions to increase the abundance of the mutant protein...
  3. pmc C9ORF72 expansion in a family with bipolar disorder
    Miriam H Meisler
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 5618, USA
    Bipolar Disord 15:326-32. 2013
    ..To investigate the role in bipolar disorder of the C9ORF72 hexanucleotide repeat expansion responsible for frontotemporal lobe dementia and amyotrophic lateral sclerosis...
  4. pmc Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A
    Valerie L Drews
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, 48109 0618, USA
    Mamm Genome 18:723-31. 2007
    ..The compact cluster of conserved regulatory elements in SCN8A provides a useful target for molecular analysis of neuronal gene expression...
  5. ncbi request reprint Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan48109 0618, USA
    Amyotroph Lateral Scler 9:141-8. 2008
    ..Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS...
  6. ncbi request reprint Ion channel mutations in mouse models of inherited neurological disease
    M H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Ann Med 29:569-74. 1997
    ..The mouse studies indicate that mutations in ion channel genes are likely to be responsible for a broad spectrum of clinical phenotypes in human neurological disorders...
  7. ncbi request reprint Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Genetica 122:37-45. 2004
    ..These mutations demonstrate the value of mouse models to elucidate the pathophysiology of human disease...
  8. ncbi request reprint Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520
    M H Meisler
    Department of Human Genetics, University of Michigan, 4909 Buhl, Box 0618, Ann Arbor, MI 48109 0618, USA
    Hum Genet 118:776. 2006
  9. pmc Sodium channel mutations in epilepsy and other neurological disorders
    Miriam H Meisler
    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109 0618, USA
    J Clin Invest 115:2010-7. 2005
    ..The rapid pace of discoveries suggests that sodium channel mutations are significant factors in the etiology of neurological disease and may contribute to psychiatric disorders as well...
  10. ncbi request reprint Sodium channels and neurological disease: insights from Scn8a mutations in the mouse
    M H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Neuroscientist 7:136-45. 2001
    ....
  11. pmc Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    J Physiol 588:1841-8. 2010
    ..Whole genome sequencing and exome sequencing in patients with epilepsy will soon make it possible to detect multiple variants and their interactions in the genomes of patients with seizure disorders...
  12. pmc Identification of epilepsy genes in human and mouse
    M H Meisler
    Department of Human Genetics, School of Medicine, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Annu Rev Genet 35:567-88. 2001
    ..The development of pharmaceuticals directed towards specific epilepsy genotypes can be anticipated, and the introduction of patient mutations into the mouse genome will provide models for testing these targeted therapies...
  13. ncbi request reprint SCNM1, a putative RNA splicing factor that modifies disease severity in mice
    David A Buchner
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 0618, USA
    Science 301:967-9. 2003
    ..Our finding that genetic variation in a putative RNA splicing factor influences disease susceptibility in mice raises the possibility that a similar mechanism modifies the severity of human inherited disorders...
  14. ncbi request reprint Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells
    Stephen I Levin
    Dept of Human Genetics, University of Michigan, School of Medicine, Ann Arbor, MI 48109 0618, USA
    J Neurophysiol 96:785-93. 2006
    ..The loss of these channels leads to a decrease in Purkinje cell firing rates as well as a modification of the synaptic properties of afferent parallel fibers, with the ultimate consequence of disrupting motor behavior...
  15. pmc Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor
    Lisa M Sharkey
    Department of Human Genetics, University of Michigan, 4812 Med Sci II, 1241 Catherine Street, Ann Arbor, MI 48109 5618, USA
    Parkinsonism Relat Disord 15:321-3. 2009
    ..SCN8A encodes the neuronal voltage gated sodium channel Na(v)1.6 that is widely expressed in the central nervous system. Several mutations of Scn8a in the mouse result in congenital postural tremor of the extremities and head...
  16. ncbi request reprint Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter
    Valerie L Drews
    Department of Human Genetics, University of Michigan, 4708 Medical Science II, Ann Arbor, MI 48109 0618, USA
    Genomics 85:245-57. 2005
    ..Sequence comparison of human and mouse SCN8A identified 12 conserved noncoding elements whose effect on transcription was tested in transfected cells...
  17. pmc De novo exon duplication in a new allele of mouse Glra1 (spasmodic)
    Katherine D Holland
    Division of Neurology, Cincinnati Children s Hospital Medical Center, OH 45229 3039, and Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Genetics 174:2245-7. 2006
    ..The mutant transcript results in premature protein truncation. A direct repeat of the pentamer GGGGC is present adjacent to the breakpoints and may have mediated the duplication event by a replication slippage mechanism...
  18. pmc A targeted deleterious allele of the splicing factor SCNM1 in the mouse
    Viive M Howell
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109 5618, USA
    Genetics 180:1419-27. 2008
    ..The phenotypes of the Scnm1Delta3-5 mutant confirm the role of this splice factor in processing the Scn8a(medJ) transcript and provide a new allele of greater severity for future studies...
  19. ncbi request reprint Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy
    Jennifer A Kearney
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Pediatr Neurol 34:116-20. 2006
    ..Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides...
  20. ncbi request reprint Mutations of voltage-gated sodium channels in movement disorders and epilepsy
    Miriam H Meisler
    Department of Human Genetics, University of Michigan, Ann Arbor, 48109 0618, USA
    Novartis Found Symp 241:72-81; discussion 82-6, 226-32. 2002
    ..Advances in molecular methods coupled with genomic sequences from the Human Genome Project will permit identification of many new patient mutations and generation of animal models to dissect their physiological and cellular consequences...
  21. ncbi request reprint Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6)
    Stephen I Levin
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan 48109 0618, USA
    Genesis 39:234-9. 2004
    ..Conditional inactivation of the floxed allele will make it possible to circumvent the lethality that results from complete loss of Scn8a in order to investigate the physiologic role of NaV1.6 in subpopulations of neurons...
  22. ncbi request reprint Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6)
    Jennifer A Kearney
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor 48109, USA
    Hum Mol Genet 11:2765-75. 2002
    ..medJ mice provide a model for the physiological effects of sodium channel deficiency and the molecular mechanism of bigenic disease...
  23. ncbi request reprint Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13
    David A Buchner
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Mamm Genome 15:344-51. 2004
    ..The new alleles of Scn8a will be valuable for analysis of sodium channel physiology and disease...
  24. ncbi request reprint High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot
    David A Buchner
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 0618, USA
    Genomics 82:452-9. 2003
    ..5 cM/Mb. The role of the modifier in other disorders in human and mouse can be tested with linked markers described here...
  25. pmc Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
    Clement Y Chow
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 84:85-8. 2009
    ..Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases...
  26. pmc Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
    Ligia A Papale
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Hum Mol Genet 18:1633-41. 2009
    ..The abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD make SCN8A an attractive candidate gene for common human absence epilepsy, a genetically complex disorder...
  27. pmc The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking
    Lisa M Sharkey
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109 5618, USA
    J Neurosci 29:2733-41. 2009
    ..The data demonstrate that the cytoplasmic N-terminal domain of the sodium channel is required for anterograde transport from the Golgi complex to the plasma membrane...
  28. ncbi request reprint Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6
    Bryan T MacDonald
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Development 131:2543-52. 2004
    ..These compensatory interactions between Dkk1 and Lrp6 demonstrate the importance of correctly balancing positive and negative regulation of Wnt signaling during mammalian development...
  29. pmc Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities
    Melinda S Martin
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 285:9823-34. 2010
    ..Decreased inhibition may be a common mechanism underlying clinically distinct SCN1A-derived disorders...
  30. pmc Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4
    Garth Nicholson
    Department of Neurology, University of Sydney, ANZAC Institute, Concord Hospital, NSW 2139, Australia
    Brain 134:1959-71. 2011
    ..FIG4 mutations should be considered in Charcot-Marie-Tooth patients with these characteristics, especially if found in combination with sporadic or recessive inheritance, childhood onset and a phase of rapid progression...
  31. ncbi request reprint TSRC1, a widely expressed gene containing seven thrombospondin type I repeats
    David A Buchner
    Department of Human Genetics, University of Michigan School of Medicine, Ann Arbor, MI 48109 0618, USA
    Gene 307:23-30. 2003
    ..Human TSRC1 is located on chromosome 1q21 within an 11.7 Mb segment of conserved synteny. TSRC1 and the closely linked gene ADAM15 appear to be derived by a chromosomal inversion that interrupted an ancestral ADAMTS gene...
  32. pmc VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse
    Natsuko Jin
    Department of Cell and Developmental Biology and Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109 2216, USA
    EMBO J 27:3221-34. 2008
    ..Moreover, these studies show that the association of Fab1 with the complex is essential for viability in the mouse...
  33. ncbi request reprint Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb
    Maja Adamska
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Dev Dyn 233:368-72. 2005
    ..The data are consistent with the view that Wnt7a acts through Lrp6 and the canonical Wnt signaling pathway during dorsal and posterior limb development in the mouse...
  34. ncbi request reprint En1 and Wnt7a interact with Dkk1 during limb development in the mouse
    Maja Adamska
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618, USA
    Dev Biol 272:134-44. 2004
    ..The failure of Wnt7a inactivation to completely correct the limb defects of Dkk1d/dEn1-/- double mutants indicates that Wnt7a is not the only gene regulated by En1 during development of the mouse limb...
  35. ncbi request reprint Sacred disease secrets revealed: the genetics of human epilepsy
    Julie Turnbull
    The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Hum Mol Genet 14:2491-500. 2005
    ..These, however, still account for a mere fraction of the genetic contribution to epilepsy. Exciting years are ahead, in which the genetics of this extremely common, and debilitating, neurological disorder will be solved...
  36. ncbi request reprint Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse
    Thomas Schmitt-John
    Developmental Biology and Molecular Pathology, Bielefeld University, Germany
    Nat Genet 37:1213-5. 2005
    ..Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse, indicating that Vps54 has an essential role in these processes...
  37. pmc Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
    Katherine D Holland
    Division of Neurology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Neurosci Lett 433:65-70. 2008
    ..This observation of a potentially pathogenic mutation of SCN3A (Nav1.3) indicates that this gene should be further evaluated for its contribution to childhood epilepsy...
  38. ncbi request reprint Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia
    Melanie Hamann
    Department of Pharmacology and Toxicology, School of Veterinary Medicine, Freie Universitat Berlin, Koserstrasse 20, 14195 Berlin, Germany
    Exp Neurol 184:830-8. 2003
    ..With the exception of muscle weakness, many of the features of the med(J) mouse are similar to human idiopathic dystonia...
  39. ncbi request reprint Sacred disease secrets revealed: the genetics of human epilepsy
    Julie Turnbull
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
    Hum Mol Genet 14:2491-2500. 2005
    ..These, however, still account for a mere fraction of the genetic contribution to epilepsy. Exciting years are ahead, in which the genetics of this extremely common, and debilitating, neurological disorder will be solved...
  40. ncbi request reprint Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning
    Diana S Woodruff-Pak
    Department of Psychology, Temple University, Philadelphia, PA 19122, USA
    Behav Neurosci 120:229-40. 2006
    ....
  41. ncbi request reprint Progressive loss of striatal neurons causes motor dysfunction in MND2 mutant mice and is not prevented by Bcl-2
    Silvia Rathke-Hartlieb
    Developmental Biology and Molecular Pathology, University of Bielefeld, Bielefeld, D 33501, Germany
    Exp Neurol 175:87-97. 2002
    ..Thus, MND2 mutant mice may provide useful insights into molecular events underlying striatal cell death...
  42. ncbi request reprint Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb
    Maja Adamska
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 0618, USA
    Dev Biol 255:350-62. 2003
    ..doubleridge thus exhibits an unusual limb phenotype combining abnormal compaction of the AER with normal dorsal/ventral patterning...
  43. pmc Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
    Xuebao Zhang
    Department of Neurology, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain 131:1990-2001. 2008
    ..This study represents the first documentation of the natural history of CMT4J. Physical obstruction of organelle trafficking by vacuoles is a potential novel cellular mechanism of neurodegeneration...
  44. ncbi request reprint A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor
    Ying Wang
    Department of Developmental Neurobiology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Eur J Neurosci 17:1581-90. 2003
    ..In addition, the frequent occurrence of in-frame deletions within the N-terminal domain in hotfoot mutants suggests the importance of this domain in the function of delta2 receptors...
  45. ncbi request reprint Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice
    Julie M Jones
    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109 0618, USA
    Nature 425:721-7. 2003
    ..The neurodegeneration and juvenile lethality in mnd2 mice result from this defect in mitochondrial Omi protease...

Research Grants53

  1. NEUROMUSCULAR DISEASE GENE ENCODING A NEW SODIUM CHANNEL
    MIRIAM MEISLER; Fiscal Year: 1999
    ..Promoter function will also be assayed in transgenic mice. This work will provide thorough characterization of normal and mutated forms of a novel sodium channel and contribute to the diagnosis and treatment of neuromuscular disease. ..
  2. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2003
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  3. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2002
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  4. Gene interaction in development and disease
    Miriam H Meisler; Fiscal Year: 2010
    ....
  5. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1991
    ..These investigations will contribute to our understanding of the molecular basis of tissue-specific and hormonal regulation of mammalian gene expression...
  6. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2002
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  7. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2007
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  8. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1993
    ..Insertional mutation in transgenic mice provides a powerful system for the identification and genetic mapping of new functional elements in the mammalian genome, and for molecular characterization of these new genes...
  9. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1980
    ..If we can understand how normal enzyme concentration is altered by mutation, the regulatory mechanisms responsible for maintenance of steady-state enzyme levels may be identified. ..
  10. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2005
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  11. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2001
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  12. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2007
    ..Because of the high level of alternative splicing in the nervous system, variation in SCNM1 may be of particular significance for neurological disease. ..
  13. MICHIGAN PREDOCTORAL TRAINING PROGRAM IN GENETICS
    MIRIAM MEISLER; Fiscal Year: 2007
    ..The GTP is one of the oldest and largest NIH-supported training programs, and continues to be a vital component of graduate education and biomedical research at the University of Michigan. ..
  14. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    Miriam H Meisler; Fiscal Year: 2010
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  15. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2009
    ....
  16. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1999
    ..These projects will contribute to isolation of genes involved in craniofacial development, identification of new genetic disorders, and development of the human and mouse comparative genetic maps. ..
  17. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2000
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  18. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2005
    ..Because of the high level of alternative splicing in the nervous system, variation in SCNM1 may be of particular significance for neurological disease. ..
  19. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2009
    ..We propose to extend this work to related genes and disorders, and to generate better animal models of the human disease in order to understand the pathogenic mechanism and provide an accurate model for testing therapeutic intervention. ..
  20. Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2009
    ..This project will characterize the neurological and behavioral effects of specific changes in sodium channel genes, using mouse models of human mutations. ..
  21. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2006
    ..Because of the high level of alternative splicing in the nervous system, variation in SCNM1 may be of particular significance for neurological disease. ..
  22. Gene interaction in development and disease
    MIRIAM MEISLER; Fiscal Year: 2004
    ..Because of the high level of alternative splicing in the nervous system, variation in SCNM1 may be of particular significance for neurological disease. ..
  23. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2004
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  24. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2003
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  25. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2003
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  26. INSERTIONAL MUTANTS AND DEVELOPMENT IN TRANSGENIC MICE
    MIRIAM MEISLER; Fiscal Year: 1992
    ..Insertional mutation in transgenic mice provides a powerful system for the identification and genetic mapping of new functional elements in the mammalian genome, and for molecular characterization of these new genes...
  27. GENETIC REGULATION OF MOUSE ENZYMES
    MIRIAM MEISLER; Fiscal Year: 1990
    ..These investigations will contribute to our understanding of the molecular basis of tissue-specific and hormonal regulation of mammalian gene expression...
  28. NEUROMUSCULAR DISEASE GENE ENCODING A NEW SODIUM CHANNEL
    MIRIAM MEISLER; Fiscal Year: 2000
    ..Promoter function will also be assayed in transgenic mice. This work will provide thorough characterization of normal and mutated forms of a novel sodium channel and contribute to the diagnosis and treatment of neuromuscular disease. ..
  29. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2001
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  30. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2002
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..
  31. INSERTIONAL MUTANTS AND DEVELOPMENT
    MIRIAM MEISLER; Fiscal Year: 2002
    ..The interaction between Scn8a and Scnm1 is a model for gene interactions that modify human susceptibility to inherited neurological disorders. ..
  32. The neuronal sodium channel gene SCN8A
    MIRIAM MEISLER; Fiscal Year: 2006
    ..This work will extend our knowledge of the physiological and cellular functions of SCN8A in the CNS and PNS and its role in neurological disease. ..