Journal Articles — Jeffrey L. Noebels, M.D., Ph.D.

Dr. Jeffrey L. Noebels has authored and co-authored 179 journal articles. They are listed here in reverse chronological order and grouped by published year. Click on the Expand plus symbol or Collapse minus symbol symbol to expand/collapse the list of journal publications by year, respectively.

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2017

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Journal Articles Published in 2017 (n = 4)

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John Lin CC, Yu K, Hatcher A, Huang TW, Lee HK, Carlson J, et al. Identification of diverse astrocyte populations and their malignant analogs. Nat Neurosci. 2017;20(3):396-405. PMID: 28166219.

0     

Lam AD, Deck G, Goldman A, Eskandar EN, Noebels J, Cole AJ. Silent hippocampal seizures and spikes identified by foramen ovale electrodes in Alzheimer's disease. Nat Med. 2017;23(6):678-80. PMID: 28459436.

0     

Noebels J. Precision physiology and rescue of brain ion channel disorders. J Gen Physiol. 2017;149(5):533-46. PMID: 28428202.

0     

Tang M, Gao G, Rueda CB, Yu H, Thibodeaux DN, Awano T, et al. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat Commun. 2017;8:14152. PMID: 28106060.

2016

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Journal Articles Published in 2016 (n = 9)

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Aiba I, Wehrens XH, Noebels JL. Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death. Proc Natl Acad Sci U S A. 2016;113(33):E4895-903. PMID: 27482086.

0     

Bomben VC, Aiba I, Qian J, Mark MD, Herlitze S, Noebels JL. Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy. J Neurosci. 2016;36(2):405-18. PMID: 26758833.

0     

Hernandez CC, Klassen TL, Jackson LG, Gurba K, Hu N, Noebels JL, et al. Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. PLoS One. 2016;11(9):e0162883. PMID: 27622563.

0     

Holmes GL, Noebels JL. The Epilepsy Spectrum: Targeting Future Research Challenges. Cold Spring Harb Perspect Med. 2016;6(7):. PMID: 27371672.

0     

Horvath A, Szucs A, Barcs G, Noebels JL, Kamondi A. Epileptic Seizures in Alzheimer Disease: A Review. Alzheimer Dis Assoc Disord. 2016;30(2):186-92. PMID: 26756385.

0     

Lopez AY, Wang X, Xu M, Maheshwari A, Curry D, Lam S, et al. Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder. Mol Psychiatry. 2016;:. PMID: 27956739.

0     

Maheshwari A, Marks RL, Yu KM, Noebels JL. Shift in interictal relative gamma power as a novel biomarker for drug response in two mouse models of absence epilepsy. Epilepsia. 2016;57(1):79-88. PMID: 26663261.

0     

Noebels J. Hippocampal abnormalities and sudden childhood death. Forensic Sci Med Pathol. 2016;12(2):198-9. PMID: 27094436.

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Siehr MS, Noebels JL. Early rescue of interneuron disease trajectory in developmental epilepsies. Curr Opin Neurobiol. 2016;36:82-8. PMID: 26517286.

2015

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Journal Articles Published in 2015 (n = 6)

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26

Aiba I, Noebels JL. Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models. Sci Transl Med. 2015;7(282):282ra46. PMID: 25855492.

6

Glasscock E, Voigt N, McCauley MD, Sun Q, Li N, Chiang DY, et al. Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation. Basic Res Cardiol. 2015;110(5):505. PMID: 26162324.

1

Kole MJ, Qian J, Waase MP, Klassen TL, Chen TT, Augustine GJ, et al. Selective Loss of Presynaptic Potassium Channel Clusters at the Cerebellar Basket Cell Terminal Pinceau in Adam11 Mutants Reveals Their Role in Ephaptic Control of Purkinje Cell Firing. J Neurosci. 2015;35(32):11433-44. PMID: 26269648.

0     

Nakao A, Miki T, Shimono K, Oka H, Numata T, Kiyonaka S, et al. Compromised maturation of GABAergic inhibition underlies abnormal network activity in the hippocampus of epileptic Ca2+ channel mutant mice, tottering. Pflugers Arch. 2015;467(4):737-52. PMID: 24947601.

23

Noebels J. Pathway-driven discovery of epilepsy genes. Nat Neurosci. 2015;18(3):344-50. PMID: 25710836.

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Noebels JL. Single-gene determinants of epilepsy comorbidity. Cold Spring Harb Perspect Med. 2015;5(11):. PMID: 26525453.

<2014

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Journal Articles Published in <2014 (n = 160)

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12

Bomben V, Holth J, Reed J, Cramer P, Landreth G, Noebels J. Bexarotene reduces network excitability in models of Alzheimer's disease and epilepsy. Neurobiol Aging. 2014;35(9):2091-5. PMID: 24767949.

35

Born HA, Kim JY, Savjani RR, Das P, Dabaghian YA, Guo Q, et al. Genetic suppression of transgenic APP rescues Hypersynchronous network activity in a mouse model of Alzheimer's disease. J Neurosci. 2014;34(11):3826-40. PMID: 24623762.

1

Guerrini R, Noebels J. How can advances in epilepsy genetics lead to better treatments and cures? Adv Exp Med Biol. 2014;813:309-17. PMID: 25012387.

24

Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, et al. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia. 2014;55(2):e6-12. PMID: 24372310.

8

Maheshwari A, Noebels JL. Monogenic models of absence epilepsy: windows into the complex balance between inhibition and excitation in thalamocortical microcircuits. Prog Brain Res. 2014;213:223-52. PMID: 25194492.

12

Olivetti PR, Maheshwari A, Noebels JL. Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. Sci Transl Med. 2014;6(220):220ra12. PMID: 24452264.

11

Ozkan ED, Creson TK, Kramar EA, Rojas C, Seese RR, Babyan AH, et al. Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons. Neuron. 2014;82(6):1317-33. PMID: 24945774.

15

Qi Y, Wang J, Bomben VC, Li DP, Chen SR, Sun H, et al. Hyper-SUMOylation of the Kv7 potassium channel diminishes the M-current leading to seizures and sudden death. Neuron. 2014;83(5):1159-71. PMID: 25189211.

19

Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL. Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology. 2013;80(12):1078-85. PMID: 23408874.

3

Cole AJ, Eskandar E, Mela T, Noebels JL, Gonzalez RG, McGuone D. Case records of the Massachusetts General Hospital. Case 18-2013: a 32-year-old woman with recurrent episodes of altered consciousness. N Engl J Med. 2013;368(24):2304-12. PMID: 23758236.

24

Eom T, Zhang C, Wang H, Lay K, Fak J, Noebels JL, et al. NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure. elife. 2013;2:e00178. PMID: 23359859.

49

Holth JK, Bomben VC, Reed JG, Inoue T, Younkin L, Younkin SG, et al. Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy. J Neurosci. 2013;33(4):1651-9. PMID: 23345237.

3

Klassen TL, Drabek J, Tomson T, Sveinsson O, von Dobeln U, Noebels JL, et al. Visual automated fluorescence electrophoresis provides simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal blood spots. J Mol Diagn. 2013;15(3):283-90. PMID: 23518217.

34

Lerche H, Shah M, Beck H, Noebels J, Johnston D, Vincent A. Ion channels in genetic and acquired forms of epilepsy. J Physiol. 2013;591(Pt 4):753-64. PMID: 23090947.

15

Maejima T, Wollenweber P, Teusner LU, Noebels JL, Herlitze S, Mark MD. Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice. J Neurosci. 2013;33(12):5162-74. PMID: 23516282.

0     

Maheshwari A, Nahm WK, Noebels JL. Paradoxical proepileptic response to NMDA receptor blockade linked to cortical interneuron defect in stargazer mice. Front Cell Neurosci. 2013;7:156. PMID: 24065886.

26

Wilcox KS, Dixon-Salazar T, Sills GJ, Ben-Menachem E, White HS, Porter RJ, et al. Issues related to development of new antiseizure treatments. Epilepsia. 2013;54 Suppl 4:24-34. PMID: 23909851.

0     

de Curtis M, Nehlig A, Noebels J, Sankar R, Vezzani A. WONOEP XI: Workshop summary by the Scientific Organizing Committee. Epilepsia. 2012;53(7):1275-6. PMID: 22578186.

79

Galanopoulou AS, Buckmaster PS, Staley KJ, Moshe SL, Perucca E, Engel J, et al. Identification of new epilepsy treatments: issues in preclinical methodology. Epilepsia. 2012;53(3):571-82. PMID: 22292566.

59

Ince-Dunn G, Okano HJ, Jensen KB, Park WY, Zhong R, Ule J, et al. Neuronal Elav-like (Hu) proteins regulate RNA splicing and abundance to control glutamate levels and neuronal excitability. Neuron. 2012;75(6):1067-80. PMID: 22998874.

9

Klassen TL, von Ruden EL, Drabek J, Noebels JL, Goldman AM. Comparative analytical utility of DNA derived from alternative human specimens for molecular autopsy and diagnostics. J Mol Diagn. 2012;14(5):451-7. PMID: 22796560.

24

Olivetti PR, Noebels JL. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. Curr Opin Neurobiol. 2012;22(5):859-65. PMID: 22565167.

35

Hirsch LJ, Donner EJ, So EL, Jacobs M, Nashef L, Noebels JL, et al. Abbreviated report of the NIH/NINDS workshop on sudden unexpected death in epilepsy. Neurology. 2011;76(22):1932-8. PMID: 21543734.

144

Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 2011;145(7):1036-48. PMID: 21703448.

30

Mark MD, Maejima T, Kuckelsberg D, Yoo JW, Hyde RA, Shah V, et al. Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations. J Neurosci. 2011;31(11):4311-26. PMID: 21411672.

35

McGuire AL, Oliver JM, Slashinski MJ, Graves JL, Wang T, Kelly PA, et al. To share or not to share: a randomized trial of consent for data sharing in genome research. Genet Med. 2011;13(11):948-55. PMID: 21785360.

79

Noebels J. A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation. Epilepsia. 2011;52 Suppl 1:39-46. PMID: 21214538.

26

Qian J, Xu K, Yoo J, Chen TT, Andrews G, Noebels JL. Knockout of Zn transporters Zip-1 and Zip-3 attenuates seizure-induced CA1 neurodegeneration. J Neurosci. 2011;31(1):97-104. PMID: 21209194.

225

Roberson ED, Halabisky B, Yoo JW, Yao J, Chin J, Yan F, et al. Amyloid-beta/Fyn-induced synaptic, network, and cognitive impairments depend on tau levels in multiple mouse models of Alzheimer's disease. J Neurosci. 2011;31(2):700-11. PMID: 21228179.

0     

Shim DJ, Yang L, Reed JG, Noebels JL, Chiao PJ, Zheng H. Disruption of the NF-kappaB/IkappaBalpha autoinhibitory loop improves cognitive performance and promotes hyperexcitability of hippocampal neurons. Mol Neurodegener. 2011;6:42. PMID: 21663635.

33

Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J Neurosci. 2011;31(28):10359-70. PMID: 21753013.

61

Zhu PJ, Huang W, Kalikulov D, Yoo JW, Placzek AN, Stoica L, et al. Suppression of PKR promotes network excitability and enhanced cognition by interferon-gamma-mediated disinhibition. Cell. 2011;147(6):1384-96. PMID: 22153080.

386

Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010;468(7321):263-9. PMID: 21068835.

84

Glasscock E, Yoo JW, Chen TT, Klassen TL, Noebels JL. Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci. 2010;30(15):5167-75. PMID: 20392939.

58

Jiang YH, Pan Y, Zhu L, Landa L, Yoo J, Spencer C, et al. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One. 2010;5(8):e12278. PMID: 20808828.

7

Noebels JL, Avoli M, Rogawski M, Olsen R, Delgado-Escueta AV. "Jasper's Basic Mechanisms of the Epilepsies" Workshop. Epilepsia. 2010;51 Suppl 5:1-5. PMID: 21208201.

97

Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, et al. Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia. 2010;51(4):655-70. PMID: 20100225.

75

Peebles CL, Yoo J, Thwin MT, Palop JJ, Noebels JL, Finkbeiner S. Arc regulates spine morphology and maintains network stability in vivo. Proc Natl Acad Sci U S A. 2010;107(42):18173-8. PMID: 20921410.

29

Zhang X, Bertaso F, Yoo JW, Baumgartel K, Clancy SM, Lee V, et al. Deletion of the potassium channel Kv12.2 causes hippocampal hyperexcitability and epilepsy. Nat Neurosci. 2010;13(9):1056-8. PMID: 20676103.

16

Ernst SJ, Aguilar-Bryan L, Noebels JL. Sodium channel beta1 regulatory subunit deficiency reduces pancreatic islet glucose-stimulated insulin and glucagon secretion. Endocrinology. 2009;150(3):1132-9. PMID: 18988673.

9

Ernst WL, Noebels JL. Expanded alternative splice isoform profiling of the mouse Cav3.1/alpha1G T-type calcium channel. BMC Mol Biol. 2009;10:53. PMID: 19480703.

71

Ernst WL, Zhang Y, Yoo JW, Ernst SJ, Noebels JL. Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy. J Neurosci. 2009;29(6):1615-25. PMID: 19211869.

119

Goldman AM, Glasscock E, Yoo J, Chen TT, Klassen TL, Noebels JL. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med. 2009;1(2):2ra6. PMID: 20368164.

64

Jacobs MP, Leblanc GG, Brooks-Kayal A, Jensen FE, Lowenstein DH, Noebels JL, et al. Curing epilepsy: progress and future directions. Epilepsy Behav. 2009;14(3):438-45. PMID: 19341977.

83

Price MG, Yoo JW, Burgess DL, Deng F, Hrachovy RA, Frost JD, et al. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci. 2009;29(27):8752-63. PMID: 19587282.

0     

 

Glasscock E, Noebels JL. When a disease gene is not really a disease gene. Future Neurology. 2008;3(2):103-6.

0     

Noebels JL. 2006 Merritt Putnam Symposium: mapping epileptic circuitry. Epilepsia. 2008;49 Suppl 3:1-2. PMID: 18304250.

155

Seal RP, Akil O, Yi E, Weber CM, Grant L, Yoo J, et al. Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron. 2008;57(2):263-75. PMID: 18215623.

2

Shuba YM, Perez-Reyes E, Lory P, Noebels J. T-type calcium channels: from discovery to channelopathies, 25 years of research. Channels (Austin). 2008;2(4):299-302. PMID: 18769138.

55

Singh NA, Otto JF, Dahle EJ, Pappas C, Leslie JD, Vilaythong A, et al. Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol. 2008;586(Pt 14):3405-23. PMID: 18483067.

40

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, et al. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet. 2007;16(15):1802-13. PMID: 17517686.

72

Glasscock E, Qian J, Yoo JW, Noebels JL. Masking epilepsy by combining two epilepsy genes. Nat Neurosci. 2007;10(12):1554-8. PMID: 17982453.

69

Lopez-Santiago LF, Meadows LS, Ernst SJ, Chen C, Malhotra JD, McEwen DP, et al. Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol. 2007;43(5):636-47. PMID: 17884088.

0     

Noebels JL, Sidman RL. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet. 2007;21(4):253-6. PMID: 18161587.

512

Palop JJ, Chin J, Roberson ED, Wang J, Thwin MT, Bien-Ly N, et al. Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease. Neuron. 2007;55(5):697-711. PMID: 17785178.

12

Sisodiya S, Cross JH, Blumcke I, Chadwick D, Craig J, Crino PB, et al. Genetics of epilepsy: epilepsy research foundation workshop report. Epileptic Disord. 2007;9(2):194-236. PMID: 17525034.

0     

Goldman A, Noebels J. Invited comments on the Shostak and Ottman review. Epilepsia. 2006;47(10):1750-1; author reply 1755-6. PMID: 17054704.

21

Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, et al. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006;21(2):93-8. PMID: 16566870.

3

Noebels JL. The Judith Hoyer Lecture: genes, pixels, patterns, and prevention. Epilepsy Behav. 2006;9(3):379-85. PMID: 17029973.

37

Qian J, Noebels JL. Exocytosis of vesicular zinc reveals persistent depression of neurotransmitter release during metabotropic glutamate receptor long-term depression at the hippocampal CA3-CA1 synapse. J Neurosci. 2006;26(22):6089-95. PMID: 16738253.

87

Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, et al. A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet. 2006;15(7):1169-79. PMID: 16497725.

202

Brenner R, Chen QH, Vilaythong A, Toney GM, Noebels JL, Aldrich RW. BK channel beta4 subunit reduces dentate gyrus excitability and protects against temporal lobe seizures. Nat Neurosci. 2005;8(12):1752-9. PMID: 16261134.

271

Cobos I, Calcagnotto ME, Vilaythong AJ, Thwin MT, Noebels JL, Baraban SC, et al. Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nat Neurosci. 2005;8(8):1059-68. PMID: 16007083.

20

Jankovic J, Noebels JL. Genetic mouse models of essential tremor: are they essential? J Clin Invest. 2005;115(3):584-6. PMID: 15765140.

0     

Noebels JL. Calcium channel 'gaiting' and absence epilepsy. Epilepsy Curr. 2005;5(3):95-7. PMID: 16145613.

107

Qian J, Noebels JL. Visualization of transmitter release with zinc fluorescence detection at the mouse hippocampal mossy fibre synapse. J Physiol. 2005;566(Pt 3):747-58. PMID: 15919713.

92

Senechal KR, Thaller C, Noebels JL. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet. 2005;14(12):1613-20. PMID: 15857855.

148

Chen C, Westenbroek RE, Xu X, Edwards CA, Sorenson DR, Chen Y, et al. Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci. 2004;24(16):4030-42. PMID: 15102918.

311

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13(21):2679-89. PMID: 15351775.

113

May P, Rohlmann A, Bock HH, Zurhove K, Marth JD, Schomburg ED, et al. Neuronal LRP1 functionally associates with postsynaptic proteins and is required for normal motor function in mice. Mol Cell Biol. 2004;24(20):8872-83. PMID: 15456862.

28

Mori M, Burgess DL, Gefrides LA, Foreman PJ, Opferman JT, Korsmeyer SJ, et al. Expression of apoptosis inhibitor protein Mcl1 linked to neuroprotection in CNS neurons. Cell Death Differ. 2004;11(11):1223-33. PMID: 15286683.

60

Zhang Y, Vilaythong AP, Yoshor D, Noebels JL. Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. J Neurosci. 2004;24(22):5239-48. PMID: 15175394.

67

Houseweart MK, Pennacchio LA, Vilaythong A, Peters C, Noebels JL, Myers RM. Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht-Lundborg progressive myoclonus epilepsy (EPM1). J Neurobiol. 2003;56(4):315-27. PMID: 12918016.

51

Houseweart MK, Vilaythong A, Yin XM, Turk B, Noebels JL, Myers RM. Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1). Cell Death Differ. 2003;10(12):1329-35. PMID: 12934064.

27

Kantheti P, Diaz ME, Peden AE, Seong EE, Dolan DF, Robinson MS, et al. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Mamm Genome. 2003;14(3):157-67. PMID: 12647238.

39

Noebels JL. Exploring new gene discoveries in idiopathic generalized epilepsy. Epilepsia. 2003;44 Suppl 2:16-21. PMID: 12752457.

0     

Noebels JL. How a sodium channel mutation causes epilepsy. Epilepsy Curr. 2003;3(2):70-71. PMID: 15309091.

0     

Noebels JL. Stiff goats, chloride ions, and idiopathic generalized epilepsy (IGE). Epilepsy Curr. 2003;3(4):146-7. PMID: 15309062.

182

Noebels JL. The biology of epilepsy genes. Annu Rev Neurosci. 2003;26:599-625. PMID: 14527270.

228

Powell EM, Campbell DB, Stanwood GD, Davis C, Noebels JL, Levitt P. Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J Neurosci. 2003;23(2):622-31. PMID: 12533622.

38

Qian J, Noebels JL. Topiramate alters excitatory synaptic transmission in mouse hippocampus. Epilepsy Res. 2003;55(3):225-33. PMID: 12972176.

69

Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, et al. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003;23(10):3646-55. PMID: 12724422.

19

Anderson E, Berkovic S, Dulac O, Gardiner M, Jain S, Laue Friis M, et al. ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies. Epilepsia. 2002;43(10):1262-7. PMID: 12366744.

0     

Noebels JL. A gene for JME at last: the alpha1 GABA receptor subunit. Epilepsy Curr. 2002;2(4):131-132. PMID: 15309143.

0     

Noebels JL. Human epilepsy can be linked to a defective calcium channel. Epilepsy Curr. 2002;2(3):95. PMID: 15309155.

9

Noebels JL. Sodium channel gene expression and epilepsy. Novartis Found Symp. 2002;241:109-20; discussion 120-3, 226-32. PMID: 11771641.

33

Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, et al. Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002;58(10):1559-62. PMID: 12034802.

486

Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002;35(2):243-54. PMID: 12160743.

91

Stables JP, Bertram EH, White HS, Coulter DA, Dichter MA, Jacobs MP, et al. Models for epilepsy and epileptogenesis: report from the NIH workshop, Bethesda, Maryland. Epilepsia. 2002;43(11):1410-20. PMID: 12423393.

126

Zhang Y, Mori M, Burgess DL, Noebels JL. Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci. 2002;22(15):6362-71. PMID: 12151514.

69

Burgess DL, Gefrides LA, Foreman PJ, Noebels JL. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Genomics. 2001;71(3):339-50. PMID: 11170751.

56

Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, Lee O, et al. Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia. 2001;42(9):1103-11. PMID: 11580756.

77

Jacobs MP, Fischbach GD, Davis MR, Dichter MA, Dingledine R, Lowenstein DH, et al. Future directions for epilepsy research. Neurology. 2001;57(9):1536-42. PMID: 11706087.

13

Noebels JL. Modeling human epilepsies in mice. Epilepsia. 2001;42 Suppl 5:11-5. PMID: 11887961.

80

Qian J, Noebels JL. Presynaptic Ca2+ channels and neurotransmitter release at the terminal of a mouse cortical neuron. J Neurosci. 2001;21(11):3721-8. PMID: 11356859.

30

Qiao X, Suri C, Knusel B, Noebels JL. Absence of hippocampal mossy fiber sprouting in transgenic mice overexpressing brain-derived neurotrophic factor. J Neurosci Res. 2001;64(3):268-76. PMID: 11319771.

117

Zwingman TA, Neumann PE, Noebels JL, Herrup K. Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J Neurosci. 2001;21(4):1169-78. PMID: 11160387.

125

Ayata C, Shimizu-Sasamata M, Lo EH, Noebels JL, Moskowitz MA. Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channels. Neuroscience. 2000;95(3):639-45. PMID: 10670432.

10

Burgess DL, Matsuura T, Ashizawa T, Noebels JL. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 2000;41(1):24-7. PMID: 10643919.

9

Burgess DL, Noebels JL. Calcium channel defects in models of inherited generalized epilepsy. Epilepsia. 2000;41(8):1074-5. PMID: 10961647.

4

Kellaway P, Mizrahi EM, Noebels JL. Benign focal epilepsies of childhood: genetically determined pathophysiology. Report of an international workshop. Epilepsia. 2000;41(8):1049-50. PMID: 10961636.

111

Lau D, Vega-Saenz de Miera EC, Contreras D, Ozaita A, Harvey M, Chow A, et al. Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins. J Neurosci. 2000;20(24):9071-85. PMID: 11124984.

214

Liu M, Pleasure SJ, Collins AE, Noebels JL, Naya FJ, Tsai MJ, et al. Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy. Proc Natl Acad Sci U S A. 2000;97(2):865-70. PMID: 10639171.

324

Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26(2):191-4. PMID: 11017075.

88

Qian J, Noebels JL. Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations. J Neurosci. 2000;20(1):163-70. PMID: 10627593.

70

Steinlein OK, Noebels JL. Ion channels and epilepsy in man and mouse. Curr Opin Genet Dev. 2000;10(3):286-91. PMID: 10826987.

75

Burgess DL, Biddlecome GH, McDonough SI, Diaz ME, Zilinski CA, Bean BP, et al. beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain. Mol Cell Neurosci. 1999;13(4):293-311. PMID: 10328888.

47

Burgess DL, Davis CF, Gefrides LA, Noebels JL. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. Genome Res. 1999;9(12):1204-13. PMID: 10613843.

75

Burgess DL, Noebels JL. Single gene defects in mice: the role of voltage-dependent calcium channels in absence models. Epilepsy Res. 1999;36(2-3):111-22. PMID: 10515159.

47

Burgess DL, Noebels JL. Voltage-dependent calcium channel mutations in neurological disease. Ann N Y Acad Sci. 1999;868:199-212. PMID: 10414295.

6

Clark GD, Noebels JL. Cortin disaster: lissencephaly genes spell double trouble for the developing brain. Ann Neurol. 1999;45(2):141-2. PMID: 9989613.

90

Hartmann HA, Colom LV, Sutherland ML, Noebels JL. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat Neurosci. 1999;2(7):593-5. PMID: 10404176.

33

Noebels JL. Single-gene models of epilepsy. Adv Neurol. 1999;79:227-38. PMID: 10514817.

30

Sutherland ML, Williams SH, Abedi R, Overbeek PA, Pfaffinger PJ, Noebels JL. Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression. Proc Natl Acad Sci U S A. 1999;96(5):2451-5. PMID: 10051663.

444

Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, et al. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron. 1998;21(4):799-811. PMID: 9808466.

295

Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, Carskadon SL, et al. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron. 1998;21(1):111-22. PMID: 9697856.

30

Nahm WK, Noebels JL. Nonobligate role of early or sustained expression of immediate-early gene proteins c-fos, c-jun, and Zif/268 in hippocampal mossy fiber sprouting. J Neurosci. 1998;18(22):9245-55. PMID: 9801364.

0     

Noebels JL. Ion channelopathies and heritable epilepsy. News Physiol Sci. 1998;13:255-256. PMID: 11390799.

207

Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nat Genet. 1998;20(3):251-8. PMID: 9806543.

107

Westenbroek RE, Bausch SB, Lin RC, Franck JE, Noebels JL, Catterall WA. Upregulation of L-type Ca2+ channels in reactive astrocytes after brain injury, hypomyelination, and ischemia. J Neurosci. 1998;18(7):2321-34. PMID: 9502793.

331

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. 1997;88(3):385-92. PMID: 9039265.

69

Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J. A candidate model for Angelman syndrome in the mouse. Mamm Genome. 1997;8(7):472-8. PMID: 9195990.

201

Cox GA, Lutz CM, Yang CL, Biemesderfer D, Bronson RT, Fu A, et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell. 1997;91(1):139-48. PMID: 9335342.

59

Di Pasquale E, Keegan KD, Noebels JL. Increased excitability and inward rectification in layer V cortical pyramidal neurons in the epileptic mutant mouse Stargazer. J Neurophysiol. 1997;77(2):621-31. PMID: 9065835.

211

Kash SF, Johnson RS, Tecott LH, Noebels JL, Mayfield RD, Hanahan D, et al. Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci U S A. 1997;94(25):14060-5. PMID: 9391152.

1

Noebels JL, Qiao X, Nahm WK. Neurogenetic approaches to axon sprouting in the hippocampus. Adv Neurol. 1997;72:35-44. PMID: 8993682.

3

Noebels JL, Sutherland ML, Nahm WK, DiPasquale E. Molecular and cellular plasticity in developing epileptic brain. Cold Spring Harb Symp Quant Biol. 1996;61:319-26. PMID: 9246461.

84

Noebels JL. Targeting epilepsy genes. Neuron. 1996;16(2):241-4. PMID: 8789939.

57

Qiao X, Hefti F, Knusel B, Noebels JL. Selective failure of brain-derived neurotrophic factor mRNA expression in the cerebellum of stargazer, a mutant mouse with ataxia. J Neurosci. 1996;16(2):640-8. PMID: 8551348.

99

Sutherland ML, Delaney TA, Noebels JL. Glutamate transporter mRNA expression in proliferative zones of the developing and adult murine CNS. J Neurosci. 1996;16(7):2191-207. PMID: 8601800.

37

Chafetz RS, Nahm WK, Noebels JL. Aberrant expression of neuropeptide Y in hippocampal mossy fibers in the absence of local cell injury following the onset of spike-wave synchronization. Brain Res Mol Brain Res. 1995;31(1-2):111-21. PMID: 7476019.

13

Noebels JL. Single locus mutations in mice expressing generalized spike-wave absence epilepsies. Ital J Neurol Sci. 1995;16(1-2):107-11. PMID: 7642343.

11

Sutherland ML, Delaney TA, Noebels JL. Molecular characterization of a high-affinity mouse glutamate transporter. Gene. 1995;162(2):271-4. PMID: 7557442.

71

Wang H, Allen ML, Grigg JJ, Noebels JL, Tempel BL. Hypomyelination alters K+ channel expression in mouse mutants shiverer and Trembler. Neuron. 1995;15(6):1337-47. PMID: 8845157.

40

Frankel WN, Taylor BA, Noebels JL, Lutz CM. Genetic epilepsy model derived from common inbred mouse strains. Genetics. 1994;138(2):481-9. PMID: 7828829.

16

Helekar SA, Noebels JL. Analysis of voltage-gated and synaptic conductances contributing to network excitability defects in the mutant mouse tottering. J Neurophysiol. 1994;71(1):1-10. PMID: 8158221.

21

Buckwalter MS, Testa CM, Noebels JL, Camper SA. Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response. Genomics. 1993;17(2):279-86. PMID: 8406478.

88

Qiao X, Noebels JL. Developmental analysis of hippocampal mossy fiber outgrowth in a mutant mouse with inherited spike-wave seizures. J Neurosci. 1993;13(11):4622-35. PMID: 8229188.

87

Wu SM, Qiao X, Noebels JL, Yang XL. Localization and modulatory actions of zinc in vertebrate retina. Vision Res. 1993;33(18):2611-6. PMID: 8296456.

10

Helekar SA, Noebels JL. A burst-dependent hippocampal excitability defect elicited by potassium at the developmental onset of spike-wave seizures in the Tottering mutant. Brain Res Dev Brain Res. 1992;65(2):205-10. PMID: 1572065.

105

Westenbroek RE, Noebels JL, Catterall WA. Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain. J Neurosci. 1992;12(6):2259-67. PMID: 1318958.

20

Helekar SA, Noebels JL. Synchronous hippocampal bursting reveals network excitability defects in an epilepsy gene mutation. Proc Natl Acad Sci U S A. 1991;88(11):4736-40. PMID: 2052555.

52

Noebels JL, Marcom PK, Jalilian-Tehrani MH. Sodium channel density in hypomyelinated brain increased by myelin basic protein gene deletion. Nature. 1991;352(6334):431-4. PMID: 1713650.

7

Noebels JL. Mutational analysis of spike-wave epilepsy phenotypes. Epilepsy Res Suppl. 1991;4:201-12. PMID: 1815603.

14

Qiao XX, Noebels JL. Genetic and phenotypic heterogeneity of inherited spike-wave epilepsy: two mutant gene loci with independent cerebral excitability defects. Brain Res. 1991;555(1):43-50. PMID: 1933329.

137

Noebels JL, Qiao X, Bronson RT, Spencer C, Davisson MT. Stargazer: a new neurological mutant on chromosome 15 in the mouse with prolonged cortical seizures. Epilepsy Res. 1990;7(2):129-35. PMID: 2289471.

24

Noebels JL, Rutecki PA. Altered hippocampal network excitability in the hypernoradrenergic mutant mouse tottering. Brain Res. 1990;524(2):225-30. PMID: 2292005.

36

Noebels JL, Sidman RL. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet. 1989;6(1):53-6. PMID: 2778559.

22

Noebels JL. Mutational analysis of inherited epilepsies. Adv Neurol. 1986;44:97-113. PMID: 2871726.

109

Noebels JL. A single gene error of noradrenergic axon growth synchronizes central neurones. Nature. 1984;310(5976):409-11. PMID: 6462226.

35

Noebels JL. Isolating single genes of the inherited epilepsies. Ann Neurol. 1984;16 Suppl:S18-21. PMID: 6095738.

116

Levitt P, Noebels JL. Mutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutation. Proc Natl Acad Sci U S A. 1981;78(7):4630-4. PMID: 6945603.

212

Noebels JL, Sidman RL. Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science. 1979;204(4399):1334-6. PMID: 572084.

33

Noebels JL. Analysis of inherited epilepsy using single locus mutations in mice. Fed Proc. 1979;38(10):2405-10. PMID: 383515.

48

Noebels JL, Prince DA. Development of focal seizures in cerebral cortex: role of axon terminal bursting. J Neurophysiol. 1978;41(5):1267-81. PMID: 702194.

21

Noebels JL, Prince DA. Excitability changes in thalamocortical relay neurons during synchronous discharges in cat neocortex. J Neurophysiol. 1978;41(5):1282-96. PMID: 212538.

17

Noebels JL, Roth WT, Kopell BS. Cortical slow potentials and the occipital EEG in congenital blindness. J Neurol Sci. 1978;37(1-2):51-8. PMID: 690664.

36

Noebels JL, Pedley TA. Anatomic localization of topically applied [14C]penicillin during experimental focal epilepsy in cat neocortex. Brain Res. 1977;125(2):293-303. PMID: 404001.

30

Noebels JL, Prince DA. Presynaptic origin of penicillin after discharges at mammalian nerve terminals. Brain Res. 1977;138(1):59-74. PMID: 201346.

33

Schwartzkroin PA, Futamachi KJ, Noebels JL, Prince DA. Transcallosal effects of a cortical epileptiform focus. Brain Res. 1975;99(1):59-68. PMID: 1188986.

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