| Year |
Citation |
Score |
| 2023 |
Hill SF, Yu W, Ziobro J, Chalasani S, Reger F, Meisler MH. Long-term downregulation of the sodium channel gene Scn8a is therapeutic in mouse models of SCN8A epilepsy. Annals of Neurology. PMID 38113311 DOI: 10.1002/ana.26861 |
0.353 |
|
| 2023 |
Hill SF, Jafar-Nejad P, Rigo F, Meisler MH. Reduction of is therapeutic in mouse models of and epilepsy. Frontiers in Neuroscience. 17: 1282201. PMID 37901435 DOI: 10.3389/fnins.2023.1282201 |
0.466 |
|
| 2023 |
Cao X, Lenk GM, Meisler MH. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c. G3 (Bethesda, Md.). PMID 36691351 DOI: 10.1093/g3journal/jkad007 |
0.327 |
|
| 2022 |
Hill SF, Ziobro J, Jafar-Nejad P, Rigo F, Meisler MH. Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2. Epilepsia. PMID 35892317 DOI: 10.1111/epi.17374 |
0.477 |
|
| 2022 |
Yu W, Mulligan MK, Williams RW, Meisler MH. Correction of the hypomorphic splice site variant in mouse strain C57BL/6J modifies the severity of encephalopathy. Hgg Advances. 3: 100064. PMID 35047853 DOI: 10.1016/j.xhgg.2021.100064 |
0.351 |
|
| 2021 |
Yu W, Smolen CE, Hill SF, Meisler MH. Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse. Human Molecular Genetics. PMID 33822038 DOI: 10.1093/hmg/ddab092 |
0.374 |
|
| 2021 |
Meisler MH, Hill SF, Yu W. Sodium channelopathies in neurodevelopmental disorders. Nature Reviews. Neuroscience. PMID 33531663 DOI: 10.1038/s41583-020-00418-4 |
0.437 |
|
| 2020 |
Lenk GM, Jafar-Nejad P, Hill SF, Huffman LD, Smolen CE, Wagnon JL, Petit H, Yu W, Ziobro J, Bhatia K, Parent J, Giger RJ, Rigo F, Meisler MH. Scn8a antisense oligonucleotide is protective in mouse models of SCN8A Encephalopathy and Dravet Syndrome. Annals of Neurology. PMID 31943325 DOI: 10.1002/Ana.25676 |
0.443 |
|
| 2019 |
Du J, Simmons S, Brunklaus A, Adiconis X, Hession CC, Fu Z, Li Y, Shema R, Møller RS, Barak B, Feng G, Meisler M, Sanders S, Lerche H, Campbell AJ, et al. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 31928904 DOI: 10.1016/J.Ejpn.2019.12.019 |
0.445 |
|
| 2019 |
Meisler MH. SCN8A encephalopathy: Mechanisms and models. Epilepsia. 60: S86-S91. PMID 31904118 DOI: 10.1111/Epi.14703 |
0.507 |
|
| 2019 |
Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, ... Meisler MH, et al. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. Epilepsia. PMID 31625145 DOI: 10.1111/Epi.16371 |
0.401 |
|
| 2019 |
Lenk GM, Park YN, Lemons R, Flynn E, Plank M, Frei CM, Davis MJ, Gregorka B, Swanson JA, Meisler MH, Kitzman JO. CRISPR knockout screen implicates three genes in lysosome function. Scientific Reports. 9: 9609. PMID 31270356 DOI: 10.1038/S41598-019-45939-W |
0.334 |
|
| 2019 |
Solé L, Wagnon JL, Akin EJ, Meisler MH, Tamkun MM. The MAP1B binding domain of Na1.6 is required for stable expression at the axon initial segment. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 30914445 DOI: 10.1523/Jneurosci.2771-18.2019 |
0.497 |
|
| 2019 |
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, ... ... Meisler MH, et al. Cerebral hypomyelination associated with biallelic variants of FIG. 4. Human Mutation. PMID 30740813 DOI: 10.1002/Humu.23720 |
0.362 |
|
| 2019 |
Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia K, Jones JM, Maniaci MR, Parent JM, Goodkin HP, Patel MK, Meisler MH. Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Brain : a Journal of Neurology. PMID 30601941 DOI: 10.1093/Brain/Awy324 |
0.511 |
|
| 2018 |
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, ... ... Meisler M, et al. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. American Journal of Human Genetics. 103: 1022-1029. PMID 30526861 DOI: 10.1016/J.Ajhg.2018.10.023 |
0.476 |
|
| 2018 |
Chen C, Holth JK, Bunton-Stasyshyn R, Anumonwo CK, Meisler MH, Noebels JL, Isom LL. deletion fails to rescue premature lethality in two models of sodium channel epilepsy. Annals of Clinical and Translational Neurology. 5: 982-987. PMID 30128323 DOI: 10.1002/Acn3.599 |
0.432 |
|
| 2018 |
Baker EM, Thompson CH, Hawkins NA, Wagnon JL, Wengert ER, Patel MK, George AL, Meisler MH, Kearney JA. The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. Epilepsia. PMID 29782051 DOI: 10.1111/Epi.14196 |
0.448 |
|
| 2018 |
Wagnon JL, Mencacci NE, Barker BS, Wenger ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Human Mutation. PMID 29726066 DOI: 10.1002/Humu.23547 |
0.5 |
|
| 2018 |
Mironova YA, Lin JP, Kalinski A, Huffman L, Lenk GM, Havton LA, Meisler MH, Giger RJ. Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System. Human Molecular Genetics. PMID 29688489 DOI: 10.1093/Hmg/Ddy145 |
0.318 |
|
| 2017 |
Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ. Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. Annals of Clinical and Translational Neurology. 4: 859-864. PMID 29296614 DOI: 10.1002/Acn3.487 |
0.397 |
|
| 2017 |
Wagnon JL, Barker BS, Ottolini M, Park Y, Volkheimer A, Valdez P, Swinkels MEM, Patel MK, Meisler MH. Loss-of-function variants of SCN8A in intellectual disability without seizures. Neurology. Genetics. 3: e170. PMID 28702509 DOI: 10.1212/Nxg.0000000000000170 |
0.346 |
|
| 2017 |
Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK. Aberrant sodium channel currents and hyperexcitability of medial entorhinal cortex neurons in a mouse model of SCN8A encephalopathy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 28676574 DOI: 10.1523/Jneurosci.2709-16.2017 |
0.484 |
|
| 2017 |
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler MH, Pueschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy. Bone. 103: 136-143. PMID 28676440 DOI: 10.1016/J.Bone.2017.06.025 |
0.373 |
|
| 2017 |
Lopez-Santiago LF, Yuan Y, Wagnon JL, Hull JM, Frasier CR, O'Malley HA, Meisler MH, Isom LL. Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. Proceedings of the National Academy of Sciences of the United States of America. PMID 28193882 DOI: 10.1073/Pnas.1616821114 |
0.375 |
|
| 2016 |
Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harbor Molecular Case Studies. 2: a001073. PMID 27900360 DOI: 10.1101/mcs.a001073 |
0.407 |
|
| 2016 |
Sprissler RS, Wagnon JL, Bunton-Stasyshyn RK, Meisler MH, Hammer MF. Altered gene expression profile in a mouse model of SCN8A encephalopathy. Experimental Neurology. PMID 27836728 DOI: 10.1016/J.Expneurol.2016.11.002 |
0.482 |
|
| 2016 |
Frasier CR, Wagnon JL, Bao YO, McVeigh LG, Lopez-Santiago LF, Meisler MH, Isom LL. Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. Proceedings of the National Academy of Sciences of the United States of America. PMID 27791149 DOI: 10.1073/Pnas.1612746113 |
0.499 |
|
| 2016 |
Barker BS, Ottolini M, Wagnon JL, Hollander RM, Meisler MH, Patel MK. The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. Epilepsia. PMID 27375106 DOI: 10.1111/Epi.13461 |
0.474 |
|
| 2016 |
Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. American Journal of Human Genetics. PMID 27292112 DOI: 10.1016/J.Ajhg.2016.05.008 |
0.397 |
|
| 2016 |
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, et al. SCN8A encephalopathy: Research progress and prospects. Epilepsia. PMID 27270488 DOI: 10.1111/Epi.13422 |
0.475 |
|
| 2016 |
Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Annals of Clinical and Translational Neurology. 3: 114-23. PMID 26900580 DOI: 10.1002/Acn3.276 |
0.527 |
|
| 2016 |
Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH. Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder. Neurobiology of Disease. PMID 26807988 DOI: 10.1016/J.Nbd.2016.01.018 |
0.529 |
|
| 2016 |
Wagnon JL, Bunton-Stasyshyn RK, Meisler MH. Mutations of Sodium Channel SCN8A (Nav1.6) in Neurological Disease Ion Channels in Health and Disease. 239-264. DOI: 10.1016/B978-0-12-802002-9.00010-8 |
0.433 |
|
| 2015 |
Lenk GM, Frei CM, Miller AC, Wallen RC, Mironova YA, Giger RJ, Meisler MH. Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. Human Molecular Genetics. PMID 26604144 DOI: 10.1093/Hmg/Ddv480 |
0.452 |
|
| 2015 |
Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX, Kuzniewicz MW. Incidence of Dravet Syndrome in a US Population. Pediatrics. PMID 26438699 DOI: 10.1542/Peds.2015-1807 |
0.417 |
|
| 2015 |
Pal D, Jones JM, Wisidagamage S, Meisler MH, Mashour GA. Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics. Plos One. 10: e0134960. PMID 26252017 DOI: 10.1371/Journal.Pone.0134960 |
0.488 |
|
| 2015 |
Wagnon JL, Meisler MH. Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. Frontiers in Neurology. 6: 104. PMID 26029160 DOI: 10.3389/Fneur.2015.00104 |
0.5 |
|
| 2015 |
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. Journal of Medical Genetics. 52: 330-7. PMID 25725044 DOI: 10.1136/Jmedgenet-2014-102813 |
0.499 |
|
| 2015 |
Wagnon JL, Korn MJ, Parent R, Tarpey TA, Jones JM, Hammer MF, Murphy GG, Parent JM, Meisler MH. Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Human Molecular Genetics. 24: 506-15. PMID 25227913 DOI: 10.1093/Hmg/Ddu470 |
0.496 |
|
| 2015 |
Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A. Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Human Molecular Genetics. 24: 383-96. PMID 25187576 DOI: 10.1093/Hmg/Ddu451 |
0.359 |
|
| 2014 |
de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Research. 108: 1511-8. PMID 25239001 DOI: 10.1016/J.Eplepsyres.2014.08.020 |
0.424 |
|
| 2014 |
Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. 24: 666-70. PMID 24878229 DOI: 10.1016/J.Nmd.2014.04.010 |
0.448 |
|
| 2014 |
Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiology of Disease. 69: 117-23. PMID 24874546 DOI: 10.1016/J.Nbd.2014.05.017 |
0.564 |
|
| 2014 |
Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, ... Meisler MH, et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 82: 1068-75. PMID 24598713 DOI: 10.1212/Wnl.0000000000000241 |
0.576 |
|
| 2014 |
Lenk GM, Meisler MH. Mouse models of PI(3,5)P2 deficiency with impaired lysosome function. Methods in Enzymology. 534: 245-60. PMID 24359958 DOI: 10.1016/B978-0-12-397926-1.00014-7 |
0.331 |
|
| 2014 |
Jones JM, Meisler MH. Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a. Genesis (New York, N.Y. : 2000). 52: 141-8. PMID 24288358 DOI: 10.1002/Dvg.22731 |
0.501 |
|
| 2013 |
O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Frontiers in Genetics. 4: 213. PMID 24194747 DOI: 10.3389/Fgene.2013.00213 |
0.562 |
|
| 2013 |
Auerbach DS, Jones J, Clawson BC, Offord J, Lenk GM, Ogiwara I, Yamakawa K, Meisler MH, Parent JM, Isom LL. Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. Plos One. 8: e77843. PMID 24155976 DOI: 10.1371/Journal.Pone.0077843 |
0.377 |
|
| 2013 |
Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ. Murine Fig4 is dispensable for muscle development but required for muscle function. Skeletal Muscle. 3: 21. PMID 24004519 DOI: 10.1186/2044-5040-3-21 |
0.333 |
|
| 2013 |
Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM. Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Annals of Neurology. 74: 128-39. PMID 23821540 DOI: 10.1002/Ana.23897 |
0.46 |
|
| 2013 |
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020 |
0.484 |
|
| 2012 |
Zolov SN, Bridges D, Zhang Y, Lee WW, Riehle E, Verma R, Lenk GM, Converso-Baran K, Weide T, Albin RL, Saltiel AR, Meisler MH, Russell MW, Weisman LS. In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Proceedings of the National Academy of Sciences of the United States of America. 109: 17472-7. PMID 23047693 DOI: 10.1073/Pnas.1203106109 |
0.345 |
|
| 2012 |
Zhang Y, McCartney AJ, Zolov SN, Ferguson CJ, Meisler MH, Sutton MA, Weisman LS. Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)Pâ‚‚ and PI(5)P. The Embo Journal. 31: 3442-56. PMID 22842785 DOI: 10.1038/Emboj.2012.200 |
0.563 |
|
| 2012 |
Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Human Molecular Genetics. 21: 3525-34. PMID 22581779 DOI: 10.1093/Hmg/Dds179 |
0.56 |
|
| 2012 |
O'Brien JE, Sharkey LM, Vallianatos CN, Han C, Blossom JC, Yu T, Waxman SG, Dib-Hajj SD, Meisler MH. Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b. The Journal of Biological Chemistry. 287: 18459-66. PMID 22474336 DOI: 10.1074/jbc.M111.336024 |
0.323 |
|
| 2012 |
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. American Journal of Human Genetics. 90: 502-10. PMID 22365152 DOI: 10.1016/J.Ajhg.2012.01.006 |
0.469 |
|
| 2012 |
Gehman LT, Meera P, Stoilov P, Shiue L, O'Brien JE, Meisler MH, Ares M, Otis TS, Black DL. The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function. Genes & Development. 26: 445-60. PMID 22357600 DOI: 10.1101/Gad.182477.111 |
0.414 |
|
| 2012 |
O'Brien JE, Drews VL, Jones JM, Dugas JC, Barres BA, Meisler MH. Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Molecular and Cellular Neurosciences. 49: 120-6. PMID 22044765 DOI: 10.1016/J.Mcn.2011.10.005 |
0.809 |
|
| 2012 |
Noujaim SF, Kaur K, Milstein M, Jones JM, Furspan P, Jiang D, Auerbach DS, Herron T, Meisler MH, Jalife J. A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 26: 63-72. PMID 21948246 DOI: 10.1096/Fj.10-179770 |
0.404 |
|
| 2011 |
Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ. Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 17736-51. PMID 22131434 DOI: 10.1523/Jneurosci.1482-11.2011 |
0.534 |
|
| 2011 |
Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Plos Genetics. 7: e1002319. PMID 22028665 DOI: 10.1371/Journal.Pgen.1002319 |
0.377 |
|
| 2011 |
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, ... Meisler MH, et al. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)Pâ‚‚ phosphatase FIG4. Brain : a Journal of Neurology. 134: 1959-71. PMID 21705420 DOI: 10.1093/Brain/Awr148 |
0.609 |
|
| 2011 |
Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. Plos Genetics. 7: e1002104. PMID 21655088 DOI: 10.1371/Journal.Pgen.1002104 |
0.558 |
|
| 2011 |
Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Archives of Neurology. 68: 665-71. PMID 21555645 DOI: 10.1001/Archneurol.2011.98 |
0.475 |
|
| 2010 |
Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. The Journal of Physiology. 588: 1841-8. PMID 20351042 DOI: 10.1113/jphysiol.2010.188482 |
0.457 |
|
| 2010 |
Osorio N, Cathala L, Meisler MH, Crest M, Magistretti J, Delmas P. Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells. The Journal of Physiology. 588: 651-70. PMID 20173079 DOI: 10.1113/Jphysiol.2010.183798 |
0.387 |
|
| 2010 |
Martin MS, Dutt K, Papale LA, Dubé CM, Dutton SB, de Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL, Escayg A. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. The Journal of Biological Chemistry. 285: 9823-34. PMID 20100831 DOI: 10.1074/Jbc.M109.078568 |
0.816 |
|
| 2010 |
Ferguson CJ, Lenk GM, Meisler MH. PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration. Autophagy. 6: 170-1. PMID 20009544 DOI: 10.4161/Auto.6.1.10626 |
0.498 |
|
| 2010 |
Meisler MH. Gene interactions and modifiers in epilepsy Epilepsia. 51: 66. DOI: 10.1111/J.1528-1167.2010.02852.X |
0.393 |
|
| 2009 |
Ferguson CJ, Lenk GM, Meisler MH. Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2. Human Molecular Genetics. 18: 4868-78. PMID 19793721 DOI: 10.1093/Hmg/Ddp460 |
0.567 |
|
| 2009 |
Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ, Waxman SG, Dib-Hajj SD, Meisler MH. The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 2733-41. PMID 19261867 DOI: 10.1523/Jneurosci.6026-08.2009 |
0.824 |
|
| 2009 |
Papale LA, Beyer B, Jones JM, Sharkey LM, Tufik S, Epstein M, Letts VA, Meisler MH, Frankel WN, Escayg A. Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Human Molecular Genetics. 18: 1633-41. PMID 19254928 DOI: 10.1093/Hmg/Ddp081 |
0.724 |
|
| 2009 |
Mastroiacovo F, Busceti CL, Biagioni F, Moyanova SG, Meisler MH, Battaglia G, Caricasole A, Bruno V, Nicoletti F. Induction of the Wnt antagonist, Dickkopf-1, contributes to the development of neuronal death in models of brain focal ischemia. Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism. 29: 264-76. PMID 18827832 DOI: 10.1038/Jcbfm.2008.111 |
0.326 |
|
| 2009 |
Sharkey LM, Jones JM, Hedera P, Meisler MH. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism & Related Disorders. 15: 321-3. PMID 18718804 DOI: 10.1016/j.parkreldis.2008.06.010 |
0.415 |
|
| 2008 |
Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH, Weisman LS. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse. The Embo Journal. 27: 3221-34. PMID 19037259 DOI: 10.1038/Emboj.2008.248 |
0.335 |
|
| 2008 |
Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 11768-77. PMID 19005038 DOI: 10.1523/JNEUROSCI.3901-08.2008 |
0.4 |
|
| 2008 |
Howell VM, de Haan G, Bergren S, Jones JM, Culiat CT, Michaud EJ, Frankel WN, Meisler MH. A targeted deleterious allele of the splicing factor SCNM1 in the mouse. Genetics. 180: 1419-27. PMID 18791226 DOI: 10.1534/Genetics.108.094227 |
0.334 |
|
| 2008 |
McKinney BC, Chow CY, Meisler MH, Murphy GG. Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6). Genes, Brain, and Behavior. 7: 629-38. PMID 18363861 DOI: 10.1111/j.1601-183X.2008.00399.x |
0.324 |
|
| 2008 |
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neuroscience Letters. 433: 65-70. PMID 18242854 DOI: 10.1016/J.Neulet.2007.12.064 |
0.527 |
|
| 2007 |
Drews VL, Shi K, de Haan G, Meisler MH. Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 18: 723-31. PMID 17924165 DOI: 10.1007/S00335-007-9059-8 |
0.82 |
|
| 2006 |
Holland KD, Fleming MT, Cheek S, Moran JL, Beier DR, Meisler MH. De novo exon duplication in a new allele of mouse Glra1 (spasmodic). Genetics. 174: 2245-7. PMID 17028313 DOI: 10.1534/Genetics.106.065532 |
0.405 |
|
| 2006 |
Woodruff-Pak DS, Green JT, Levin SI, Meisler MH. 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. Behavioral Neuroscience. 120: 229-40. PMID 16719687 DOI: 10.1037/0735-7044.120.2.229 |
0.719 |
|
| 2006 |
Levin SI, Khaliq ZM, Aman TK, Grieco TM, Kearney JA, Raman IM, Meisler MH. Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells. Journal of Neurophysiology. 96: 785-93. PMID 16687615 DOI: 10.1152/Jn.01193.2005 |
0.76 |
|
| 2006 |
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric Neurology. 34: 116-20. PMID 16458823 DOI: 10.1016/J.Pediatrneurol.2005.07.009 |
0.691 |
|
| 2006 |
Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Journal of Medical Genetics. 43: 527-30. PMID 16236810 DOI: 10.1136/Jmg.2005.035667 |
0.463 |
|
| 2005 |
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-2500. PMID 16278970 |
0.362 |
|
| 2005 |
Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics. 37: 1213-5. PMID 16244655 DOI: 10.1038/ng1661 |
0.345 |
|
| 2005 |
Meisler MH, Kearney JA. Sodium channel mutations in epilepsy and other neurological disorders. The Journal of Clinical Investigation. 115: 2010-7. PMID 16075041 DOI: 10.1172/Jci25466 |
0.43 |
|
| 2005 |
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Sacred disease secrets revealed: the genetics of human epilepsy. Human Molecular Genetics. 14: 2491-500. PMID 16049035 DOI: 10.1093/Hmg/Ddi250 |
0.467 |
|
| 2005 |
Adamska M, Billi AC, Cheek S, Meisler MH. Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 233: 368-72. PMID 15880584 DOI: 10.1002/Dvdy.20437 |
0.35 |
|
| 2005 |
Drews VL, Lieberman AP, Meisler MH. Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter. Genomics. 85: 245-57. PMID 15676283 DOI: 10.1016/J.Ygeno.2004.09.002 |
0.804 |
|
| 2004 |
Meisler MH, Plummer NW, Burgess DL, Buchner DA, Sprunger LK. Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions. Genetica. 122: 37-45. PMID 15619959 DOI: 10.1007/S10709-004-1441-9 |
0.84 |
|
| 2004 |
Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 24: 10022-34. PMID 15525788 DOI: 10.1523/Jneurosci.2034-04.2004 |
0.821 |
|
| 2004 |
Levin SI, Meisler MH. Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (NaV1.6). Genesis (New York, N.Y. : 2000). 39: 234-9. PMID 15286995 DOI: 10.1002/Gene.20050 |
0.779 |
|
| 2004 |
Adamska M, MacDonald BT, Sarmast ZH, Oliver ER, Meisler MH. En1 and Wnt7a interact with Dkk1 during limb development in the mouse. Developmental Biology. 272: 134-44. PMID 15242796 DOI: 10.1016/J.Ydbio.2004.04.026 |
0.664 |
|
| 2004 |
Buchner DA, Seburn KL, Frankel WN, Meisler MH. Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 344-51. PMID 15170223 DOI: 10.1007/S00335-004-2332-1 |
0.769 |
|
| 2004 |
MacDonald BT, Adamska M, Meisler MH. Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development (Cambridge, England). 131: 2543-52. PMID 15115753 DOI: 10.1242/Dev.01126 |
0.649 |
|
| 2003 |
Hamann M, Meisler MH, Richter A. Motor disturbances in mice with deficiency of the sodium channel gene Scn8a show features of human dystonia. Experimental Neurology. 184: 830-8. PMID 14769375 DOI: 10.1016/S0014-4886(03)00290-5 |
0.432 |
|
| 2003 |
Jones JM, Datta P, Srinivasula SM, Ji W, Gupta S, Zhang Z, Davies E, Hajnóczky G, Saunders TL, Van Keuren ML, Fernandes-Alnemri T, Meisler MH, Alnemri ES. Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature. 425: 721-7. PMID 14534547 DOI: 10.1038/Nature02052 |
0.343 |
|
| 2003 |
Buchner DA, Trudeau M, George AL, Sprunger LK, Meisler MH. High-resolution mapping of the sodium channel modifier Scnm1 on mouse chromosome 3 and identification of a 1.3-kb recombination hot spot. Genomics. 82: 452-9. PMID 13679025 DOI: 10.1016/S0888-7543(03)00152-6 |
0.816 |
|
| 2003 |
Buchner DA, Trudeau M, Meisler MH. SCNM1, a putative RNA splicing factor that modifies disease severity in mice. Science (New York, N.Y.). 301: 967-9. PMID 12920299 DOI: 10.1126/Science.1086187 |
0.713 |
|
| 2003 |
Wang Y, Matsuda S, Drews V, Torashima T, Meisler MH, Yuzaki M. A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor. The European Journal of Neuroscience. 17: 1581-90. PMID 12752376 DOI: 10.1046/J.1460-9568.2003.02595.X |
0.8 |
|
| 2003 |
Buchner DA, Meisler MH. TSRC1, a widely expressed gene containing seven thrombospondin type I repeats. Gene. 307: 23-30. PMID 12706885 DOI: 10.1016/S0378-1119(03)00423-2 |
0.699 |
|
| 2003 |
Adamska M, MacDonald BT, Meisler MH. Doubleridge, a mouse mutant with defective compaction of the apical ectodermal ridge and normal dorsal-ventral patterning of the limb. Developmental Biology. 255: 350-62. PMID 12648495 DOI: 10.1016/S0012-1606(02)00114-8 |
0.67 |
|
| 2003 |
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Molecular Psychiatry. 8: 186-94. PMID 12610651 DOI: 10.1038/Sj.Mp.4001241 |
0.803 |
|
| 2003 |
Spampanato J, Escayg A, Meisler MH, Goldin AL. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience. 116: 37-48. PMID 12535936 DOI: 10.1016/S0306-4522(02)00698-X |
0.733 |
|
| 2002 |
Kearney JA, Buchner DA, De Haan G, Adamska M, Levin SI, Furay AR, Albin RL, Jones JM, Montal M, Stevens MJ, Sprunger LK, Meisler MH. Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Human Molecular Genetics. 11: 2765-75. PMID 12374766 DOI: 10.1093/Hmg/11.22.2765 |
0.828 |
|
| 2002 |
Meisler MH, Kearney JA, Sprunger LK, MacDonald BT, Buchner DA, Escayg A. Mutations of voltage-gated sodium channels in movement disorders and epilepsy. Novartis Foundation Symposium. 241: 72-81; discussion 82. PMID 11771652 DOI: 10.1002/0470846682.Ch6 |
0.84 |
|
| 2001 |
Meisler MH, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annual Review of Genetics. 35: 567-88. PMID 11700294 DOI: 10.1146/Annurev.Genet.35.102401.091142 |
0.713 |
|
| 2001 |
Meisler MH. Evolutionarily conserved noncoding DNA in the human genome: How much and what for? Genome Research. 11: 1617-1618. PMID 11591637 DOI: 10.1101/Gr.211401 |
0.321 |
|
| 2001 |
Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 7481-90. PMID 11567038 DOI: 10.1523/Jneurosci.21-19-07481.2001 |
0.746 |
|
| 2001 |
Meisler MH, Kearney J, Escayg A, MacDonald BT, Sprunger LK. Sodium channels and neurological disease: insights from Scn8a mutations in the mouse. The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry. 7: 136-45. PMID 11496924 DOI: 10.1177/107385840100700208 |
0.849 |
|
| 2001 |
Reid E, Escayg A, Dearlove AM, Lee DD, Meisler MH, Rubinsztein DC. The spastic paraplegia SPG10 locus: Narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate [7] Journal of Medical Genetics. 38: 65-67. PMID 11334010 DOI: 10.1136/Jmg.38.1.65 |
0.652 |
|
| 2001 |
Maurice N, Tkatch T, Meisler M, Sprunger LK, Surmeier DJ. D1/D5 dopamine receptor activation differentially modulates rapidly inactivating and persistent sodium currents in prefrontal cortex pyramidal neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 2268-77. PMID 11264302 DOI: 10.1523/Jneurosci.21-07-02268.2001 |
0.679 |
|
| 2001 |
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. American Journal of Human Genetics. 68: 866-73. PMID 11254445 DOI: 10.1086/319524 |
0.8 |
|
| 2001 |
Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, Waxman SG, Goldin AL, Meisler MH. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities. Neuroscience. 102: 307-17. PMID 11166117 DOI: 10.1016/S0306-4522(00)00479-6 |
0.766 |
|
| 2000 |
Goldin AL, Barchi RL, Caldwell JH, Hofmann F, Howe JR, Hunter JC, Kallen RG, Mandel G, Meisler MH, Netter YB, Noda M, Tamkun MM, Waxman SG, Wood JN, Catterall WA. Nomenclature of voltage-gated sodium channels. Neuron. 28: 365-8. PMID 11144347 DOI: 10.1016/S0896-6273(00)00116-1 |
0.422 |
|
| 2000 |
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. American Journal of Human Genetics. 66: 1531-9. PMID 10762541 DOI: 10.1086/302909 |
0.746 |
|
| 2000 |
Jones JM, Huang JD, Mermall V, Hamilton BA, Mooseker MS, Escayg A, Copeland NG, Jenkins NA, Meisler MH. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Human Molecular Genetics. 9: 821-8. PMID 10749990 DOI: 10.1093/Hmg/9.5.821 |
0.687 |
|
| 2000 |
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics. 24: 343-5. PMID 10742094 DOI: 10.1038/74159 |
0.807 |
|
| 2000 |
Sprunger LK, Meisler MH, Stratakis CA. Recombination between the sodium channel SCN8A and the Allgrove syndrome gene in a Puerto Rican kindred Journal of Endocrine Genetics. 1: 165-169. |
0.682 |
|
| 1999 |
Griffith AJ, Ji W, Prince ME, Altschuler RA, Meisler MH. Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257. Journal of Craniofacial Genetics and Developmental Biology. 19: 157-63. PMID 10589397 |
0.301 |
|
| 1999 |
Chen K, Sprunger LK, Meisler MH, Waller HJ, Godfrey DA. Reduced spontaneous activity in the dorsal cochlear nucleus of Scn8a mutant mice. Brain Research. 847: 85-9. PMID 10564739 DOI: 10.1016/S0006-8993(99)02031-4 |
0.71 |
|
| 1999 |
Lu W, Phillips CL, Killen PD, Hlaing T, Harrison WR, Elder FF, Miner JH, Overbeek PA, Meisler MH. Insertional mutation of the collagen genes Col4a3 and Col4a4 in a mouse model of Alport syndrome. Genomics. 61: 113-24. PMID 10534397 DOI: 10.1006/Geno.1999.5943 |
0.456 |
|
| 1999 |
Dib-Hajj SD, Tyrrell L, Escayg A, Wood PM, Meisler MH, Waxman SG. Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN Genomics. 59: 309-318. PMID 10444332 DOI: 10.1006/Geno.1999.5890 |
0.732 |
|
| 1999 |
Plummer NW, Meisler MH. Evolution and diversity of mammalian sodium channel genes Genomics. 57: 323-331. PMID 10198179 DOI: 10.1006/Geno.1998.5735 |
0.751 |
|
| 1999 |
Ji W, Herron B, Jones JM, Jenkins NA, Gilbert DJ, Copeland NG, Swank R, Flaherty L, Meisler MH. Identification of genes within the Krd deletion on mouse chromosome 19. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 399-401. PMID 10087301 DOI: 10.1007/S003359901010 |
0.38 |
|
| 1999 |
Sprunger LK, Escayg A, Tallaksen-Greene S, Albin RL, Meisler MH. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Human Molecular Genetics. 8: 471-9. PMID 9949206 DOI: 10.1093/Hmg/8.3.471 |
0.811 |
|
| 1998 |
Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics. 54: 287-96. PMID 9828131 DOI: 10.1006/Geno.1998.5550 |
0.82 |
|
| 1998 |
Weber JS, Jang W, Simin K, Lu W, Yu J, Meisler MH. High-resolution genetic, physical, and transcript map of the mnd2 region of mouse chromosome 6. Genomics. 54: 107-15. PMID 9806835 DOI: 10.1006/geno.1998.5496 |
0.31 |
|
| 1998 |
Nomura H, Turco AE, Pei Y, Kalaydjieva L, Schiavello T, Weremowicz S, Ji W, Morton CC, Meisler M, Reeders ST, Zhou J. Identification of PKDL, a novel polycystic kidney disease 2-like gene whose murine homologue is deleted in mice with kidney and retinal defects. The Journal of Biological Chemistry. 273: 25967-73. PMID 9748274 DOI: 10.1074/Jbc.273.40.25967 |
0.496 |
|
| 1998 |
Smith MR, Smith RD, Plummer NW, Meisler MH, Goldin AL. Functional analysis of the mouse Scn8a sodium channel. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 6093-102. PMID 9698304 DOI: 10.1523/Jneurosci.18-16-06093.1998 |
0.751 |
|
| 1998 |
GarcÃa KD, Sprunger LK, Meisler MH, Beam KG. The sodium channel Scn8a is the major contributor to the postnatal developmental increase of sodium current density in spinal motoneurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 5234-9. PMID 9651206 DOI: 10.1523/Jneurosci.18-14-05234.1998 |
0.701 |
|
| 1998 |
Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH. Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Genomics. 50: 14-22. PMID 9628818 DOI: 10.1006/Geno.1998.5311 |
0.721 |
|
| 1998 |
Meisler MH, Griffith AJ, Warman M, Tiller G, Sprunger LK. Gene symbol: COL11A1. Disease: Marshall syndrome. Human Genetics. 102: 498. PMID 9600252 DOI: 10.1007/S004390050731 |
0.651 |
|
| 1998 |
Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics. 62: 816-23. PMID 9529347 DOI: 10.1086/301789 |
0.688 |
|
| 1998 |
Jones JM, Bentley E, Meisler MH, Darling SM. Genetic mapping of the voltage-gated shaker potassium channel beta subunit Kcnab1 to mouse chromosome 3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 9: 260. PMID 9501317 DOI: 10.1007/S003359900740 |
0.418 |
|
| 1997 |
Meisler MH, Sprunger LK, Plummer NW, Escayg A, Jones JM. Ion channel mutations in mouse models of inherited neurological disease. Annals of Medicine. 29: 569-74. PMID 9562526 DOI: 10.3109/07853899709007484 |
0.843 |
|
| 1997 |
Raman IM, Sprunger LK, Meisler MH, Bean BP. Altered subthreshold sodium currents and disrupted firing patterns in Purkinje neurons of Scn8a mutant mice. Neuron. 19: 881-91. PMID 9354334 DOI: 10.1016/S0896-6273(00)80969-1 |
0.707 |
|
| 1997 |
Meisler MH. Mutation watch: Mouse brachyury (T), the T-box gene family, and human disease Mammalian Genome. 8: 799-800. PMID 9337389 DOI: 10.1007/S003359900581 |
0.43 |
|
| 1997 |
Plummer NW, McBurney MW, Meisler MH. Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells Journal of Biological Chemistry. 272: 24008-24015. PMID 9295353 DOI: 10.1074/jbc.272.38.24008 |
0.738 |
|
| 1997 |
Meisler M. Mutation watch: PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 8: 543-4. PMID 9250856 DOI: 10.1007/S003359900499 |
0.392 |
|
| 1997 |
Urbánek P, Fetka I, Meisler MH, Busslinger M. Cooperation of Pax2 and Pax5 in midbrain and cerebellum development Proceedings of the National Academy of Sciences of the United States of America. 94: 5703-5708. PMID 9159136 DOI: 10.1073/Pnas.94.11.5703 |
0.44 |
|
| 1997 |
Jang W, Weber JS, Harkins EB, Meisler MH. Localization of the rhotekin gene RTKN on the physical maps of mouse chromosome 6 and human chromosome 2p13 and exclusion as a candidate for mnd2 and LGMD2BA Genomics. 40: 506-507. PMID 9073523 DOI: 10.1006/Geno.1996.4593 |
0.333 |
|
| 1997 |
Jang W, Weber JS, Tokito MK, Holzbaur EL, Meisler MH. Mouse p150Glued (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2. Biochemical and Biophysical Research Communications. 231: 344-7. PMID 9070275 DOI: 10.1006/Bbrc.1997.6095 |
0.399 |
|
| 1997 |
Burgess DL, Jones JM, Meisler MH, Noebels JL. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell. 88: 385-92. PMID 9039265 DOI: 10.1016/S0092-8674(00)81877-2 |
0.445 |
|
| 1996 |
Scarpetta MA, Uhler MD, Meisler MH. The mouse Prkacn2 gene encoding protein kinase a inhibitor 2 is located on proximal Chromosome 10 Mammalian Genome. 7: 921-922. PMID 8995769 DOI: 10.1007/S003359900273 |
0.324 |
|
| 1996 |
Kohrman DC, Smith MR, Goldin AL, Harris J, Meisler MH. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 16: 5993-9. PMID 8815882 DOI: 10.1523/Jneurosci.16-19-05993.1996 |
0.781 |
|
| 1996 |
Jang W, Weber JS, Bashir R, Bushby K, Meisler MH. Aup1, a novel gene on mouse Chromosome 6 and human chromosome 2p13 Genomics. 36: 366-368. PMID 8812468 DOI: 10.1006/Geno.1996.0477 |
0.382 |
|
| 1996 |
Griffith AJ, Burgess DL, Kohrman DC, Yu J, Blaschak J, Blanton SH, Boehnke M, Hecht JT, Overhauser J, Meisler MH. Localization of the homolog of a mouse craniofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPO. Genomics. 34: 299-303. PMID 8786128 DOI: 10.1006/Geno.1996.0290 |
0.743 |
|
| 1996 |
Jones JM, Ranscht B, Berglund EO, Gruenheid S, Gros P, Meisler MH. Close linkage of three neuronal genes on distal mouse chromosome 15. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 696-7. PMID 8703126 DOI: 10.1007/S003359900209 |
0.331 |
|
| 1996 |
Burgess DL, Rafael JA, Meisler MH, Chamberlain JS. Dlgh1, a mouse homolog of the drosophila discs-large gene, is located on chromosome 16. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 623-4. PMID 8678991 DOI: 10.1007/S003359900187 |
0.357 |
|
| 1996 |
Kohrman DC, Harris JB, Meisler MH. Mutation detection in the med and med(J) alleles of the sodium channel Scn8a: Unusual splicing due to a minor class AT-AC intron Journal of Biological Chemistry. 271: 17576-17581. PMID 8663325 DOI: 10.1074/Jbc.271.29.17576 |
0.777 |
|
| 1996 |
Griffith AJ, Radice GL, Burgess DL, Kohrman DC, Hansen GM, Justice MJ, Johnson KR, Davisson MT, Meisler MH. Location of the 9257 and ataxia mutations on mouse chromosome 18. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 7: 417-9. PMID 8662222 DOI: 10.1007/S003359900124 |
0.758 |
|
| 1996 |
Jones JM, Meisler MH, Isom LL. Scn2b, a voltage-gated sodium channel beta2 gene on mouse chromosome 9. Genomics. 34: 258-9. PMID 8661062 DOI: 10.1006/Geno.1996.0279 |
0.443 |
|
| 1996 |
Bashir R, Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, Le Paslier D, Meisler M, Bushby K. Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics. 33: 46-52. PMID 8617508 DOI: 10.1006/Geno.1996.0157 |
0.385 |
|
| 1995 |
Abel KJ, Xu J, Yin GY, Lyons RH, Meisler MH, Weber BL. Mouse Brca1: Localization, sequence analysis and identification of evolutionarily conserved domains Human Molecular Genetics. 4: 2265-2273. PMID 8634697 DOI: 10.1093/Hmg/4.12.2265 |
0.378 |
|
| 1995 |
Patel A, Rochelle JM, Jones JM, Sumegi J, Uhl GR, Seldin MF, Meisler MH, Gregor P. Mapping of the taurine transporter gene to mouse chromosome 6 and to the short arm of human chromosome 3. Genomics. 25: 314-7. PMID 7774940 DOI: 10.1016/0888-7543(95)80146-D |
0.394 |
|
| 1995 |
Jones JM, Popma SJ, Mizuta M, Seino S, Meisler MH. Synaptotagmin genes on mouse chromosomes 1, 7, and 10 and human chromosome 19. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 6: 212-3. PMID 7749232 DOI: 10.1007/Bf00293017 |
0.337 |
|
| 1995 |
Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Nature Genetics. 10: 461-5. PMID 7670495 DOI: 10.1038/Ng0895-461 |
0.838 |
|
| 1995 |
Kohrman DC, Plummer NW, Schuster T, Jones JM, Jang W, Burgess DL, Galt J, Spear BT, Meisler MH. Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15. Genomics. 26: 171-7. PMID 7601440 DOI: 10.1016/0888-7543(95)80198-U |
0.82 |
|
| 1994 |
Barrow LL, Simin K, Jones JM, Lee DC, Meisler MH. Conserved linkage of early growth response 4, annexin 4, and transforming growth factor alpha on mouse chromosome 6. Genomics. 19: 388-90. PMID 8188273 DOI: 10.1006/Geno.1994.1078 |
0.379 |
|
| 1994 |
Swaroop A, Yang-feng TL, Liu W, Gieser L, Barrow LL, Chen KC, Agarwal N, Meisler MH, Smith DI. Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6 Human Molecular Genetics. 3: 1281-1286. PMID 7987303 DOI: 10.1093/Hmg/3.8.1281 |
0.387 |
|
| 1994 |
Meisler MH, Barrow LL, Canessa CM, Rossier BC. SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12. Genomics. 24: 185-6. PMID 7896277 DOI: 10.1006/Geno.1994.1599 |
0.457 |
|
| 1994 |
Keller SA, Jones JM, Boyle A, Barrow LL, Killen PD, Green DG, Kapousta NV, Hitchcock PF, Swank RT, Meisler MH. Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics. 23: 309-20. PMID 7835879 DOI: 10.1006/Geno.1994.1506 |
0.43 |
|
| 1994 |
Ting CN, Kohrman D, Burgess DL, Boyle A, Altschuler RA, Gholizadeh G, Samuelson LC, Jang W, Meisler MH. Insertional mutation on mouse chromosome 18 with vestibular and craniofacial abnormalities. Genetics. 136: 247-54. PMID 7511123 |
0.362 |
|
| 1993 |
Yu H, Thun R, Chandrasekharappa S, Trent JM, Zhang J, Meisler MH. Human PCK1 Encoding Phosphoenolpyruvate Carboxykinase Is Located on Chromosome 20q13.2 Genomics. 15: 219-221. PMID 8432541 DOI: 10.1006/Geno.1993.1040 |
0.301 |
|
| 1993 |
Ting CN, Burgess DL, Chamberlain JS, Keith TP, Falls K, Meisler MH. Phosphoenolpyruvate carboxykinase (GTP): characterization of the human PCK1 gene and localization distal to MODY on chromosome 20. Genomics. 16: 698-706. PMID 8325643 DOI: 10.1006/Geno.1993.1250 |
0.384 |
|
| 1993 |
Barrow LL, Simin K, Mohlke K, Nichols WC, Ginsburg D, Meisler MH. Conserved linkage of neurotrophin-3 and von Willebrand factor on mouse chromosome 6. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 4: 343-5. PMID 8318738 DOI: 10.1007/Bf00357095 |
0.383 |
|
| 1993 |
Jones JM, Elder JT, Simin K, Keller SA, Meisler MH. Insertional mutation of the hairless locus on mouse chromosome 14. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 4: 639-43. PMID 8281013 DOI: 10.1007/Bf00360900 |
0.428 |
|
| 1993 |
Bespalova IN, Farjo Q, Mortlock DP, Jackson AU, Meisler MH, Swaroop A, Burmeister M. Mapping of the neural retina leucine zipper gene, Nrl, to mouse chromosome 14. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 4: 618-20. PMID 8268663 DOI: 10.1007/Bf00361397 |
0.331 |
|
| 1993 |
Meisler MH, Ting CN. The remarkable evolutionary history of the human amylase genes Critical Reviews in Oral Biology and Medicine. 4: 503-509. PMID 7690604 DOI: 10.1177/10454411930040033501 |
0.356 |
|
| 1992 |
Meisler MH. Insertional mutation of 'classical' and novel genes in transgenic mice Trends in Genetics. 8: 341-344. PMID 1475845 DOI: 10.1016/0168-9525(92)90278-C |
0.476 |
|
| 1992 |
Ting CN, Rosenberg MP, Snow CM, Samuelson LC, Meisler MH. Endogenous retroviral sequences are required for tissue-specific expression of a human salivary amylase gene Genes and Development. 6: 1457-1465. PMID 1379564 DOI: 10.1101/Gad.6.8.1457 |
0.358 |
|
| 1992 |
Jones JM, Meisler MH, Seldin MF, Lee BK, Eicher EM. Localization of insulin-2 (Ins-2) and the obesity mutant tubby (tub) to distinct regions of mouse chromosome 7 Genomics. 14: 197-199. PMID 1358794 DOI: 10.1016/S0888-7543(05)80308-8 |
0.332 |
|
| 1991 |
Samuelson LC, Wiebauer K, Howard G, Schmid RM, Koeplin D, Meisler MH. Isolation of the murine ribonuclease gene Rib-1: Structure and tissue specific expression of pancreas and parotid gland Nucleic Acids Research. 19: 6935-6941. PMID 1840677 DOI: 10.1093/Nar/19.24.6935 |
0.322 |
|
| 1990 |
Keller SA, Liptay S, Hajra A, Meisler MH. Transgene-induced mutation of the murine steel locus. Proceedings of the National Academy of Sciences of the United States of America. 87: 10019-22. PMID 1979872 DOI: 10.1073/Pnas.87.24.10019 |
0.391 |
|
| 1990 |
Keller SA, Rosenberg MP, Johnson TM, Howard G, Meisler MH. Regulation of amylase gene expression in diabetic mice is mediated by a cis-acting upstream element close to the pancreas-specific enhancer. Genes & Development. 4: 1316-21. PMID 1699843 DOI: 10.1101/Gad.4.8.1316 |
0.328 |
|
| 1990 |
Samuelson LC, Wiebauer K, Snow CM, Meisler MH. Retroviral and Pseudogene Insertion Sites Reveal the Lineage of Human Salivary and Pancreatic Amylase Genes from a Single Gene during Primate Evolution Molecular and Cellular Biology. 10: 2513-2520. PMID 1692956 DOI: 10.1128/Mcb.10.6.2513 |
0.365 |
|
| 1990 |
Dracopoli NC, Meisler MH. Mapping the human amylase gene cluster on the proximal short arm of chromosome 1 using a highly informative (CA)n repeat Genomics. 7: 97-102. PMID 1692298 DOI: 10.1016/0888-7543(90)90523-W |
0.327 |
|
| 1989 |
Grout PC, Mager WH, Frants RR, Meisler MH, Samuelson LC. The human amylase-encoding genes amy2 and amy3 are identical to AMY2A and AMY2B Gene. 85: 567-568. PMID 2483397 DOI: 10.1016/0378-1119(89)90454-X |
0.35 |
|
| 1989 |
Howard G, Keller PR, Johnson TM, Meisler MH. Binding of a pancreatic nuclear protein is correlated with amytase enhancer activity Nucleic Acids Research. 17: 8185-8194. PMID 2478959 DOI: 10.1093/Nar/17.20.8185 |
0.306 |
|
| 1989 |
Jones JM, Keller SA, Samuelson LC, Osborn L, Rosenberg MP, Meisler MH. A salivary amylase transgene is efficiently expressed in liver but not in parotid gland of transgenic mice. Nucleic Acids Research. 17: 6613-23. PMID 2476716 DOI: 10.1093/Nar/17.16.6613 |
0.354 |
|
| 1988 |
Samuelson LC, Wiebauer K, Gumucio DL, Meisler MH. Expression of the human amylase genes: Recent origin of a salivary amylase promoter from an actin pseudogene Nucleic Acids Research. 16: 8261-8276. PMID 2458567 DOI: 10.1093/Nar/16.17.8261 |
0.339 |
|
| 1988 |
Gumucio DL, Wiebauer K, Caldwell RM, Samuelson LC, Meisler MH. Concerted evolution of human amylase genes Molecular and Cellular Biology. 8: 1197-1205. PMID 2452973 DOI: 10.1128/Mcb.8.3.1197 |
0.36 |
|
| 1987 |
Osborn L, Rosenberg MP, Keller SA, Meisler MH. Tissue-specific and insulin-dependent expression of a pancreatic amylase gene in transgenic mice. Molecular and Cellular Biology. 7: 326-34. PMID 2436036 DOI: 10.1128/Mcb.7.1.326 |
0.335 |
|
| 1985 |
Wiebauer K, Gumucio DL, Jones JM, Caldwell RM, Hartle HT, Meisler MH. A 78-kilobase region of mouse chromosome 3 contains salivary and pancreatic amylase genes and a pseudogene Proceedings of the National Academy of Sciences of the United States of America. 82: 5446-5449. PMID 2410924 DOI: 10.1073/Pnas.82.16.5446 |
0.358 |
|
| 1984 |
Meisler MH, Wanner L, Strahler J. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles Journal of Heredity. 75: 103-106. PMID 6232310 DOI: 10.1093/Oxfordjournals.Jhered.A109881 |
0.399 |
|
| 1982 |
Antonucci TK, Chapman VC, Meisler MH. Linkage of the structural gene for uroporphyrinogen I synthase to markers on mouse chromosome 9 in a cross between feral and inbred mice. Biochemical Genetics. 20: 703-10. PMID 7138495 DOI: 10.1007/Bf00483967 |
0.368 |
|
| 1981 |
Bloor JH, Meisler MH. Additional evidence for the close linkage of amy-1 and amy-2 in the mouse. The Journal of Heredity. 71: 449-51. PMID 6163812 DOI: 10.1093/Oxfordjournals.Jhered.A109413 |
0.336 |
|
| 1980 |
Meisler M, Wanner L, Eddy RE, Shows TB. The UPS locus encoding uroporphyrinogen I synthase is located on human chromosome 11. Biochemical and Biophysical Research Communications. 95: 170-6. PMID 7417246 DOI: 10.1016/0006-291X(80)90719-6 |
0.348 |
|
| 1980 |
Novak EK, Swank RT, Meisler MH. Pigmentation and lysosome function in mice homozygous for both pale ear and beige-J pigment genes. Genetical Research. 35: 195-204. PMID 7390156 DOI: 10.1017/S001667230001404X |
0.348 |
|
| 1980 |
Neel JV, Mohrenweiser HW, Meisler MH. Rate of spontaneous mutation at human loci encoding protein structure Proceedings of the National Academy of Sciences of the United States of America. 77: 6037-6041. PMID 6934530 DOI: 10.1073/Pnas.77.10.6037 |
0.401 |
|
| 1980 |
Meisler MH, Carter ML. Rare structural variants of human and murine uroporphyrinogen I synthase. Proceedings of the National Academy of Sciences of the United States of America. 77: 2848-52. PMID 6930671 DOI: 10.1073/Pnas.77.5.2848 |
0.335 |
|
| 1979 |
Shows TB, Scrafford-Wolff LR, Brown JA, Meisler MH. GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA). Somatic Cell Genetics. 5: 147-58. PMID 113895 DOI: 10.1007/Bf01539157 |
0.313 |
|
| 1977 |
Paigen K, Meisler M, Felton J, Chapman V. Genetic determination of the beta-galactosidase developmental program in mouse liver. Cell. 9: 533-9. PMID 1009575 DOI: 10.1016/0092-8674(76)90035-0 |
0.319 |
|
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