Louis Ptáček - Publications

Neurology University of California, San Francisco, San Francisco, CA 
genetics, ion channels

127 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 Arble DM, Bass J, Behn CD, Butler MP, Challet E, Czeisler C, Depner CM, Elmquist J, Franken P, Grandner MA, Hanlon EC, Keene AC, Joyner MJ, Karatsoreos I, Kern PA, et al. Impact of Sleep and Circadian Disruption on Energy Balance and Diabetes: A Summary of Workshop Discussions. Sleep. PMID 26564131  0.32
2015 Musa H, Kline CF, Sturm AC, Murphy N, Adelman S, Wang C, Yan H, Johnson BL, Csepe TA, Kilic A, Higgins RS, Janssen PM, Fedorov VV, Weiss R, Salazar C, et al. SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. Proceedings of the National Academy of Sciences of the United States of America. 112: 12528-33. PMID 26392562 DOI: 10.1073/pnas.1516430112  0.84
2015 Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, et al. Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. Plos One. 10: e0137370. PMID 26322789 DOI: 10.1371/journal.pone.0137370  0.56
2015 Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, et al. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. Plos One. 10: e0127045. PMID 25996915 DOI: 10.1371/journal.pone.0127045  0.84
2015 Howng SY, Huang Y, Ptáček L, Fu YH. Understanding the role of dicer in astrocyte development. Plos One. 10: e0126667. PMID 25962146 DOI: 10.1371/journal.pone.0126667  0.84
2015 Eastburn DJ, Huang Y, Pellegrino M, Sciambi A, Ptá?ek LJ, Abate AR. Microfluidic droplet enrichment for targeted sequencing. Nucleic Acids Research. PMID 25873629 DOI: 10.1093/nar/gkv297  0.84
2015 Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptá?ek LJ. Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. Proceedings of the National Academy of Sciences of the United States of America. 112: 2935-41. PMID 25730884 DOI: 10.1073/pnas.1501364112  0.84
2015 Hsu PK, Ptá?ek LJ, Fu YH. Genetics of human sleep behavioral phenotypes. Methods in Enzymology. 552: 309-24. PMID 25707283 DOI: 10.1016/bs.mie.2014.10.046  0.84
2015 Ptáček LJ. Episodic disorders: channelopathies and beyond. Annual Review of Physiology. 77: 475-9. PMID 25668025 DOI: 10.1146/annurev-physiol-021014-071922  0.84
2015 Lee HY, Fu YH, Ptá?ek LJ. Episodic and electrical nervous system disorders caused by nonchannel genes. Annual Review of Physiology. 77: 525-41. PMID 25340963 DOI: 10.1146/annurev-physiol-021014-071814  0.84
2015 Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczałuba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptáček LJ. Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle & Nerve. 51: 192-6. PMID 24861851 DOI: 10.1002/mus.24293  0.84
2014 Lin ST, Zhang L, Lin X, Zhang LC, Garcia VE, Tsai CW, Ptá?ek L, Fu YH. Nuclear envelope protein MAN1 regulates clock through BMAL1. Elife. 3: e02981. PMID 25182847 DOI: 10.7554/eLife.02981  0.84
2014 Lin ST, Heng MY, Ptá?ek LJ, Fu YH. Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs. Translational Neurodegeneration. 3: 4. PMID 24495672 DOI: 10.1186/2047-9158-3-4  0.84
2014 Ralph J, Ptáček L. Muscle Channelopathies: Periodic Paralyses and Nondystrophic Myotonias Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. 1177-1189. DOI: 10.1016/B978-0-12-410529-4.00098-X  0.84
2013 Shin D, Lin ST, Fu YH, Ptácek LJ. Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C. Proceedings of the National Academy of Sciences of the United States of America. 110: 19101-6. PMID 24191038 DOI: 10.1073/pnas.1318501110  0.84
2013 Lin ST, Huang Y, Zhang L, Heng MY, Ptácek LJ, Fu YH. MicroRNA-23a promotes myelination in the central nervous system. Proceedings of the National Academy of Sciences of the United States of America. 110: 17468-73. PMID 24101522 DOI: 10.1073/pnas.1317182110  0.84
2013 Hallows WC, Ptáček LJ, Fu YH. Solving the mystery of human sleep schedules one mutation at a time. Critical Reviews in Biochemistry and Molecular Biology. 48: 465-75. PMID 24001255 DOI: 10.3109/10409238.2013.831395  0.84
2013 Zhang L, Ptáček LJ, Fu YH. Diversity of human clock genotypes and consequences. Progress in Molecular Biology and Translational Science. 119: 51-81. PMID 23899594 DOI: 10.1016/B978-0-12-396971-2.00003-8  0.84
2013 Baeza-Raja B, Eckel-Mahan K, Zhang L, Vagena E, Tsigelny IF, Sassone-Corsi P, Ptácek LJ, Akassoglou K. p75 neurotrophin receptor is a clock gene that regulates oscillatory components of circadian and metabolic networks. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 10221-34. PMID 23785138 DOI: 10.1523/JNEUROSCI.2757-12.2013  0.84
2013 Kurien PA, Chong SY, Ptáček LJ, Fu YH. Sick and tired: how molecular regulators of human sleep schedules and duration impact immune function. Current Opinion in Neurobiology. 23: 873-9. PMID 23702243 DOI: 10.1016/j.conb.2013.04.014  0.84
2013 Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptáček LJ, Fu YH. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. The Journal of Clinical Investigation. 123: 2719-29. PMID 23676464 DOI: 10.1172/JCI66737  0.84
2013 Russell JF, Fu YH, Ptáček LJ. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annual Review of Neuroscience. 36: 25-50. PMID 23642134 DOI: 10.1146/annurev-neuro-062012-170300  0.84
2013 Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptáček LJ. Casein kinase iδ mutations in familial migraine and advanced sleep phase. Science Translational Medicine. 5: 183ra56, 1-11. PMID 23636092 DOI: 10.1126/scitranslmed.3005784  0.84
2013 Shi G, Xing L, Liu Z, Qu Z, Wu X, Dong Z, Wang X, Gao X, Huang M, Yan J, Yang L, Liu Y, Ptácek LJ, Xu Y. Dual roles of FBXL3 in the mammalian circadian feedback loops are important for period determination and robustness of the clock. Proceedings of the National Academy of Sciences of the United States of America. 110: 4750-5. PMID 23471982 DOI: 10.1073/pnas.1302560110  0.84
2013 Kaasik K, Kivimäe S, Allen JJ, Chalkley RJ, Huang Y, Baer K, Kissel H, Burlingame AL, Shokat KM, Ptáček LJ, Fu YH. Glucose sensor O-GlcNAcylation coordinates with phosphorylation to regulate circadian clock. Cell Metabolism. 17: 291-302. PMID 23395175 DOI: 10.1016/j.cmet.2012.12.017  0.84
2013 Jones CR, Huang AL, Ptáček LJ, Fu YH. Genetic basis of human circadian rhythm disorders. Experimental Neurology. 243: 28-33. PMID 22849821 DOI: 10.1016/j.expneurol.2012.07.012  0.84
2012 Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, Ptáček LJ. PKCγ participates in food entrainment by regulating BMAL1. Proceedings of the National Academy of Sciences of the United States of America. 109: 20679-84. PMID 23185022 DOI: 10.1073/pnas.1218699110  0.84
2012 Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 79: 2097-103. PMID 23077017 DOI: 10.1212/WNL.0b013e3182752c46  0.84
2012 Dahal GR, Rawson J, Gassaway B, Kwok B, Tong Y, Ptácek LJ, Bates E. An inwardly rectifying K+ channel is required for patterning. Development (Cambridge, England). 139: 3653-64. PMID 22949619 DOI: 10.1242/dev.078592  0.84
2012 Chong SY, Ptáček LJ, Fu YH. Genetic insights on sleep schedules: this time, it's PERsonal. Trends in Genetics : Tig. 28: 598-605. PMID 22939700 DOI: 10.1016/j.tig.2012.08.002  0.84
2012 Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, et al. Familial cortical myoclonus with a mutation in NOL3. Annals of Neurology. 72: 175-83. PMID 22926851 DOI: 10.1002/ana.23666  0.84
2012 Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, Fiori S, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nature Genetics. 44: 1030-4. PMID 22842232 DOI: 10.1038/ng.2358  0.84
2012 Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports. 1: 2-12. PMID 22832103 DOI: 10.1016/j.celrep.2011.11.001  0.84
2012 Shin D, Howng SY, Ptáček LJ, Fu YH. miR-32 and its target SLC45A3 regulate the lipid metabolism of oligodendrocytes and myelin. Neuroscience. 213: 29-37. PMID 22521588 DOI: 10.1016/j.neuroscience.2012.03.054  0.84
2012 Kategaya LS, Hilliard A, Zhang L, Asara JM, Ptáček LJ, Fu YH. Casein kinase 1 proteomics reveal prohibitin 2 function in molecular clock. Plos One. 7: e31987. PMID 22384121 DOI: 10.1371/journal.pone.0031987  0.84
2012 Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptácek LJ. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. The Journal of Clinical Investigation. 122: 507-18. PMID 22214848 DOI: 10.1172/JCI58470  0.84
2011 Zhang L, Jones CR, Ptacek LJ, Fu YH. The genetics of the human circadian clock. Advances in Genetics. 74: 231-47. PMID 21924979 DOI: 10.1016/B978-0-12-387690-4.00007-6  0.84
2011 Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, Fu YH, Ptácek LJ. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Human Molecular Genetics. 20: 2322-32. PMID 21487022 DOI: 10.1093/hmg/ddr125  0.84
2011 Lin ST, Ptácek LJ, Fu YH. Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 1163-6. PMID 21273400 DOI: 10.1523/JNEUROSCI.5994-10.2011  0.84
2011 Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu YH, Ptacek LJ, Yamamoto KR, Feldman BJ. Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate. The Journal of Biological Chemistry. 286: 9063-70. PMID 21228270 DOI: 10.1074/jbc.M110.164558  0.84
2011 Dassau L, Conti LR, Radeke CM, Ptáček LJ, Vandenberg CA. Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. The Journal of Biological Chemistry. 286: 9526-41. PMID 21209095 DOI: 10.1074/jbc.M110.170597  0.84
2010 Ryan DP, Ptácek LJ. Episodic neurological channelopathies. Neuron. 68: 282-92. PMID 20955935 DOI: 10.1016/j.neuron.2010.10.008  0.84
2010 Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disorders : International Epilepsy Journal With Videotape. 12: 199-204. PMID 20716510 DOI: 10.1684/epd.2010.0328  0.84
2010 Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH, Ptácek LJ. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell. 140: 88-98. PMID 20074522 DOI: 10.1016/j.cell.2009.12.024  0.84
2010 Tong Y, Xu Y, Scearce-Levie K, Ptácek LJ, Fu YH. COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo. Neurogenetics. 11: 41-52. PMID 19548013 DOI: 10.1007/s10048-009-0201-5  0.84
2010 Bates EA, Nikai T, Brennan KC, Fu YH, Charles AC, Basbaum AI, Ptácek LJ, Ahn AH. Sumatriptan alleviates nitroglycerin-induced mechanical and thermal allodynia in mice. Cephalalgia : An International Journal of Headache. 30: 170-8. PMID 19489890 DOI: 10.1111/j.1468-2982.2009.01864.x  0.84
2009 Shin D, Shin JY, McManus MT, Ptácek LJ, Fu YH. Dicer ablation in oligodendrocytes provokes neuronal impairment in mice. Annals of Neurology. 66: 843-57. PMID 20035504 DOI: 10.1002/ana.21927  0.84
2009 Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H. Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. European Neurology. 61: 39-41. PMID 18948699 DOI: 10.1159/000165348  0.44
2008 Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 37-41. PMID 17680603 DOI: 10.1002/ajmg.b.30560  0.84
2008 Pellizzón OA, Kalaizich L, Ptácek LJ, Tristani-Firouzi M, Gonzalez MD. Flecainide suppresses bidirectional ventricular tachycardia and reverses tachycardia-induced cardiomyopathy in Andersen-Tawil syndrome. Journal of Cardiovascular Electrophysiology. 19: 95-7. PMID 17655675 DOI: 10.1111/j.1540-8167.2007.00910.x  0.84
2007 Ptácek LJ, Jones CR, Fu YH. Novel insights from genetic and molecular characterization of the human clock. Cold Spring Harbor Symposia On Quantitative Biology. 72: 273-7. PMID 18419283 DOI: 10.1101/sqb.2007.72.017  0.84
2007 Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptacek LJ, La Spada AR, Ellerby LM. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. The Journal of Biological Chemistry. 282: 30150-60. PMID 17646170 DOI: 10.1074/jbc.M705265200  0.84
2007 Freudenberg J, Fu YH, Ptácek LJ. Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection? European Journal of Human Genetics : Ejhg. 15: 1071-8. PMID 17568387 DOI: 10.1038/sj.ejhg.5201876  0.84
2007 Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 68: 1782-9. PMID 17515540 DOI: 10.1212/01.wnl.0000262029.91552.e0  0.84
2007 Freudenberg J, Fu YH, Ptácek LJ. Human recombination rates are increased around accelerated conserved regions--evidence for continued selection? Bioinformatics (Oxford, England). 23: 1441-3. PMID 17463031 DOI: 10.1093/bioinformatics/btm137  0.84
2007 Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 68: 1382-9. PMID 17452583 DOI: 10.1212/01.wnl.0000260063.46425.7e  0.84
2007 Freudenberg J, Fu YH, Ptácek LJ. Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 8: 159-68. PMID 17333079 DOI: 10.1007/s10048-007-0082-4  0.84
2007 Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptácek LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell. 128: 59-70. PMID 17218255 DOI: 10.1016/j.cell.2006.11.043  0.84
2007 Seemann G, Sachse FB, Weiss DL, Ptácek LJ, Tristani-Firouzi M. Modeling of IK1 mutations in human left ventricular myocytes and tissue. American Journal of Physiology. Heart and Circulatory Physiology. 292: H549-59. PMID 16936001 DOI: 10.1152/ajpheart.00701.2006  0.84
2006 Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nature Genetics. 38: 1114-23. PMID 16951681 DOI: 10.1038/ng1872  0.84
2006 Yoon G, Quitania L, Kramer JH, Fu YH, Miller BL, Ptácek LJ. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 66: 1703-10. PMID 16769944 DOI: 10.1212/01.wnl.0000218214.64942.64  0.84
2006 Ptácek LJ, Fu YH, Koeppen A. The dominant form of vanishing white matter-like leukoencephalopathy represents autosomal dominant leukodystrophy. Annals of Neurology. 59: 434. PMID 16437562 DOI: 10.1002/ana.20773  0.84
2006 Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu YH, Ptácek LJ. Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype. American Journal of Medical Genetics. Part A. 140: 312-21. PMID 16419128 DOI: 10.1002/ajmg.a.31092  0.84
2006 Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Human Mutation. 27: 118. PMID 16329096 DOI: 10.1002/humu.9389  0.84
2006 Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain : a Journal of Neurology. 129: 8-17. PMID 16195244 DOI: 10.1093/brain/awh639  0.84
2006 Chong SYC, Ptáček LJ, Fu YH. Genetics of familial advanced sleep phase The Genetic Basis of Sleep and Sleep Disorders. 313-326. DOI: 10.1017/CBO9781139649469.032  0.84
2005 Yoon G, Baggaley S, Bacchetti P, Fu YH, Digre KB, Ptácek LJ. Clinic-based study of family history of vascular risk factors and migraine. The Journal of Headache and Pain. 6: 412-6. PMID 16362715 DOI: 10.1007/s10194-005-0239-1  0.84
2005 Klein BD, Fu YH, Ptacek LJ, White HS. Auditory deficits associated with the frings mgr1 (mass1) mutation in mice. Developmental Neuroscience. 27: 321-32. PMID 16137990 DOI: 10.1159/000086712  0.84
2005 Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 111: 2720-6. PMID 15911703 DOI: 10.1161/CIRCULATIONAHA.104.472498  0.84
2005 Ptácek LJ, Jones CR, Fu YH. Genetic approaches to human behavior. Methods in Enzymology. 393: 239-50. PMID 15817292 DOI: 10.1016/S0076-6879(05)93009-7  0.84
2005 Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 434: 640-4. PMID 15800623 DOI: 10.1038/nature03453  0.84
2005 Uyama E, Fu YH, Ptácek LJ. Familial adult myoclonic epilepsy (FAME). Advances in Neurology. 95: 281-8. PMID 15508931  0.84
2005 Freudenberg J, Fu YH, Ptáček LJ. Approaching inherited disease on a genomic scale Current Genomics. 6: 545-549. DOI: 10.2174/138920205775067693  0.84
2004 Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 63: 2280-7. PMID 15623687  0.84
2004 Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 63: 1647-55. PMID 15534250  0.84
2004 Ptácek LJ, Fu YH. Channels and disease: past, present, and future. Archives of Neurology. 61: 1665-8. PMID 15534176 DOI: 10.1001/archneur.61.11.1665  0.84
2004 Klein BD, Fu YH, Ptacek LJ, White HS. c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse. Epilepsy Research. 62: 13-25. PMID 15519128 DOI: 10.1016/j.eplepsyres.2004.06.007  0.84
2004 Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Human Molecular Genetics. 13: 3161-70. PMID 15496428 DOI: 10.1093/hmg/ddh330  0.84
2004 Donaldson MR, Yoon G, Fu YH, Ptacek LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Annals of Medicine. 36: 92-7. PMID 15176430 DOI: 10.1080/17431380410032490  0.84
2003 Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. The Journal of Biological Chemistry. 278: 51779-85. PMID 14522976 DOI: 10.1074/jbc.M310278200  0.84
2003 Ptácek LJ, Fu YH. What's new in epilepsy genetics? Molecular Psychiatry. 8: 463-5. PMID 12808423 DOI: 10.1038/sj.mp.4001292  0.84
2003 Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 60: 1811-6. PMID 12796536  0.84
2003 Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Archives of Neurology. 60: 97-103. PMID 12533095  0.84
2003 Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Human Molecular Genetics. 12: 41-50. PMID 12490531 DOI: 10.1093/hmg/ddg006  0.84
2002 Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Annals of Neurology. 52: 654-7. PMID 12402266 DOI: 10.1002/ana.10347  0.84
2002 Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). The Journal of Clinical Investigation. 110: 381-8. PMID 12163457 DOI: 10.1172/JCI15183  0.84
2002 Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, et al. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 4897-905. PMID 12077187  0.84
2002 Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology. 58: 1266-72. PMID 11971097  0.84
2002 Ptácek LJ, Fu YH. Molecular biology of episodic movement disorders. Advances in Neurology. 89: 453-8. PMID 11968469  0.84
2001 Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 42: 35-43. PMID 11887966  0.84
2001 Swoboda KJ, Soong BW, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000. Neurology. 57: S42-8. PMID 11775608  0.84
2001 Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptácek LJ, Fu YH. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Human Molecular Genetics. 10: 2821-31. PMID 11734547  0.84
2001 La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 31: 913-27. PMID 11580893 DOI: 10.1016/S0896-6273(01)00422-6  0.84
2001 Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptácek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Annals of Neurology. 50: 417-20. PMID 11558801 DOI: 10.1002/ana.1144  0.84
2001 Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 31: 537-44. PMID 11545713 DOI: 10.1016/S0896-6273(01)00397-X  0.84
2001 Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 105: 511-9. PMID 11371347 DOI: 10.1016/S0092-8674(01)00342-7  0.84
2001 Einum DD, Townsend JJ, Ptácek LJ, Fu YH. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics. 3: 83-90. PMID 11354830 DOI: 10.1007/s100480000100  0.84
2001 Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptácek LJ, Fu YH. An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. Science (New York, N.Y.). 291: 1040-3. PMID 11232563 DOI: 10.1126/science.1057499  0.84
2001 Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 104: 217-31. PMID 11207363 DOI: 10.1016/S0092-8674(01)00207-0  0.44
2000 Bendahhou S, Cummins TR, Hahn AF, Langlois S, Waxman SG, Ptácek LJ. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. The Journal of Clinical Investigation. 106: 431-8. PMID 10930446 DOI: 10.1172/JCI9654  0.84
2000 Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology. 55: 224-30. PMID 10908896  0.84
2000 Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptácek LJ, Fu YH. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Human Molecular Genetics. 9: 787-93. PMID 10749986  0.84
2000 Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology. 54: 937-42. PMID 10690989  0.84
2000 Zhang J, Sanguinetti MC, Kwiecinski H, Ptácek LJ. Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. The Journal of Biological Chemistry. 275: 2999-3005. PMID 10644771 DOI: 10.1074/jbc.275.4.2999  0.84
1999 Ptácek LJ. Ion channel diseases: episodic disorders of the nervous system. Seminars in Neurology. 19: 363-9. PMID 10716659  0.84
1999 Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 53: 1180-3. PMID 10522869  0.84
1999 Ptácek LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Digestive Diseases and Sciences. 44: 94S-96S. PMID 10490046  0.84
1999 Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptácek LJ. Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. Nature Medicine. 5: 1062-5. PMID 10470086 DOI: 10.1038/12502  0.84
1999 Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. The Journal of Physiology. 518: 337-44. PMID 10381583 DOI: 10.1111/j.1469-7793.1999.0337p.x  0.84
1999 Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 19: 4762-71. PMID 10366610  0.84
1999 Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 58: 34-40. PMID 10331943 DOI: 10.1006/geno.1999.5814  0.84
1998 Einum DD, Zhang J, Arneson PJ, Menon AG, Ptacek LJ. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1: 289-92. PMID 10732805  0.44
1998 Ptácek L. The familial periodic paralyses and nondystrophic myotonias. The American Journal of Medicine. 105: 58-70. PMID 9688022 DOI: 10.1016/S0002-9343(98)00123-5  0.84
1998 Ptáček LJ. The place of migraine as a channelopathy Current Opinion in Neurology. 11: 217-226. PMID 9642539 DOI: 10.1097/00019052-199806000-00005  0.84
1998 Skradski SL, White HS, Ptácek LJ. Genetic mapping of a locus (mass1) causing audiogenic seizures in mice. Genomics. 49: 188-92. PMID 9598305 DOI: 10.1006/geno.1998.5229  0.84
1998 Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Human Molecular Genetics. 7: 525-32. PMID 9467013 DOI: 10.1093/hmg/7.3.525  0.84
1998 Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschütter A, Ranells J, Camfield PR, Ptácek LJ. Localization of the giant axonal neuropathy gene to chromosome 16q24. Annals of Neurology. 43: 143-8. PMID 9450783 DOI: 10.1002/ana.410430126  0.84
1997 Sansone V, Griggs RC, Meola G, Ptáček LJ, Barohn R, Lannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R. Andersen's syndrome: A distinct periodic paralysis Annals of Neurology. 42: 305-312. PMID 9307251 DOI: 10.1002/ana.410420306  0.84
1997 Fouad G, Dalakas M, Servidei S, Mendell JR, Van Den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptáček LJ. Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis Neuromuscular Disorders. 7: 33-38. PMID 9132138 DOI: 10.1016/S0960-8966(96)00401-4  0.84
1996 Zhang J, George AL, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptáček LJ. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita Neurology. 47: 993-998. PMID 8857733  0.84
1996 Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptáček LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1 American Journal of Human Genetics. 59: 392-399. PMID 8755926  0.84
1994 Ptáček LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, Leppert MF. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis Neurology. 44: 1500-1503. PMID 8058156  0.84
1994 Ptáček LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis Cell. 77: 863-868. PMID 8004673 DOI: 10.1016/0092-8674(94)90135-X  0.84
1994 Yang N, Ji S, Zhou M, Ptácek LJ, Barchi RL, Horn R, George AL. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proceedings of the National Academy of Sciences of the United States of America. 91: 12785-9. PMID 7809121 DOI: 10.1073/pnas.91.26.12785  0.84
1994 Ptáček L. Ion channel shake-down Nature Genetics. 8: 111-112. PMID 7531055 DOI: 10.1038/ng1094-111  0.84
1992 Ptáček LJ, George AL, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita Neuron. 8: 891-897. PMID 1316765 DOI: 10.1016/0896-6273(92)90203-P  0.84
1991 Ptáček LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis Cell. 67: 1021-1027. PMID 1659948 DOI: 10.1016/0092-8674(91)90374-8  0.84
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