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Louis Ptáček - Publications

Affiliations: 
Neurology University of California, San Francisco, San Francisco, CA 
Area:
genetics, ion channels
Website:
http://neugenes.org/louis_ptacek.htm
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96 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
2024 Xing L, Zou X, Yin C, Webb JM, Shi G, Ptáček LJ, Fu YH. Diverse roles of pontine NPS-expressing neurons in sleep regulation. Proceedings of the National Academy of Sciences of the United States of America. 121: e2320276121. PMID 38381789 DOI: 10.1073/pnas.2320276121  0.429
2024 Levine DC, Reeh RH, McMahon T, Mandrup-Poulsen T, Fu YH, Ptáček LJ. Nutrient Abundance Signals the Changing of the Seasons by Phosphorylating PER2. Biorxiv : the Preprint Server For Biology. PMID 38352599 DOI: 10.1101/2024.01.29.577255  0.402
2024 Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H, Hardy J, et al. Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 38197134 DOI: 10.1002/mds.29704  0.416
2023 Dong Q, Ptáček LJ, Fu YH. Mutant β-adrenergic receptor improves REM sleep and ameliorates tau accumulation in a mouse model of tauopathy. Proceedings of the National Academy of Sciences of the United States of America. 120: e2221686120. PMID 37014857 DOI: 10.1073/pnas.2221686120  0.497
2022 Webb JM, Ma M, Yin C, Ptáček LJ, Fu YH. An excitatory peri-tegmental reticular nucleus circuit for wake maintenance. Proceedings of the National Academy of Sciences of the United States of America. 119: e2203266119. PMID 35901245 DOI: 10.1073/pnas.2203266119  0.456
2022 Dong Q, Gentry NW, McMahon T, Yamazaki M, Benitez-Rivera L, Wang T, Gan L, Ptáček L, Fu YH. Familial natural short sleep mutations reduce Alzheimer pathology in mice. Iscience. 25: 103964. PMID 35496999 DOI: 10.1016/j.isci.2022.103964  0.478
2022 Gentry NW, McMahon T, Yamazaki M, Webb J, Arnold TD, Rosi S, Ptáček LJ, Fu YH. Microglia are involved in the protection of memories formed during sleep deprivation. Neurobiology of Sleep and Circadian Rhythms. 12: 100073. PMID 35028489 DOI: 10.1016/j.nbscr.2021.100073  0.442
2021 Gentry NW, Ashbrook LH, Fu YH, Ptáček LJ. Human circadian variations. The Journal of Clinical Investigation. 131. PMID 34396981 DOI: 10.1172/JCI148282  0.407
2021 Ptáček LJ, Fu YH. The whole is greater than the sum of the parts. The Journal of Clinical Investigation. 131. PMID 33463539 DOI: 10.1172/JCI145965  0.337
2020 Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptáček LJ, Fu YH. Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait. Current Biology : Cb. PMID 33065013 DOI: 10.1016/j.cub.2020.09.071  0.484
2020 Fay AJ, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptáček LJ. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. Annals of Neurology. PMID 32715519 DOI: 10.1002/Ana.25854  0.435
2019 Xing L, Shi G, Mostovoy Y, Gentry NW, Fan Z, McMahon TB, Kwok PY, Jones CR, Ptáček LJ, Fu YH. Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. Science Translational Medicine. 11. PMID 31619542 DOI: 10.1126/Scitranslmed.Aax2014  0.467
2019 Shi G, Xing L, Wu D, Bhattacharyya BJ, Jones CR, McMahon T, Chong SYC, Chen JA, Coppola G, Geschwind D, Krystal A, Ptáček LJ, Fu YH. A Rare Mutation of β-Adrenergic Receptor Affects Sleep/Wake Behaviors. Neuron. PMID 31473062 DOI: 10.1016/J.Neuron.2019.07.026  0.479
2019 Ashbrook L, Krystal A, Fu YH, Ptáček LJ. Genetics of the human circadian clock and sleep homeostat. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 31400754 DOI: 10.1038/s41386-019-0476-7  0.461
2019 Curtis BJ, Ashbrook LH, Young T, Finn LA, Fu YH, Ptáček LJ, Jones CR. Extreme morning chronotypes are often familial and not exceedingly rare: the estimated prevalence of advanced sleep phase, familial advanced sleep phase, and advanced sleep-wake phase disorder in a sleep clinic population. Sleep. PMID 31384946 DOI: 10.1093/sleep/zsz148  0.45
2019 Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptáček LJ. TIMELESS mutation alters phase responsiveness and causes advanced sleep phase. Proceedings of the National Academy of Sciences of the United States of America. PMID 31138685 DOI: 10.1073/Pnas.1819110116  0.521
2018 Hirano A, Hsu PK, Zhang L, Xing L, McMahon T, Yamazaki M, Ptáček LJ, Fu YH. DEC2 modulates orexin expression and regulates sleep. Proceedings of the National Academy of Sciences of the United States of America. PMID 29531056 DOI: 10.1073/pnas.1801693115  0.497
2018 Chong SYC, Xin L, Ptáček LJ, Fu YH. Disorders of sleep and circadian rhythms. Handbook of Clinical Neurology. 148: 531-538. PMID 29478598 DOI: 10.1016/B978-0-444-64076-5.00034-X  0.472
2017 Hughes ME, Abruzzi KC, Allada R, Anafi R, Arpat AB, Asher G, Baldi P, de Bekker C, Bell-Pedersen D, Blau J, Brown S, Ceriani MF, Chen Z, Chiu JC, Cox J, et al. Guidelines for Genome-Scale Analysis of Biological Rhythms. Journal of Biological Rhythms. 748730417728663. PMID 29098954 DOI: 10.1177/0748730417728663  0.374
2017 Hirano A, Braas D, Fu YH, Ptáček LJ. FAD Regulates CRYPTOCHROME Protein Stability and Circadian Clock in Mice. Cell Reports. 19: 255-266. PMID 28402850 DOI: 10.1016/j.celrep.2017.03.041  0.471
2017 Shi G, Wu D, Ptáček LJ, Fu YH. Human genetics and sleep behavior. Current Opinion in Neurobiology. 44: 43-49. PMID 28325617 DOI: 10.1016/j.conb.2017.02.015  0.462
2016 Hirano A, Fu YH, Ptáček LJ. The intricate dance of post-translational modifications in the rhythm of life. Nature Structural & Molecular Biology. 23: 1053-1060. PMID 27922612 DOI: 10.1038/nsmb.3326  0.406
2016 Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptáček LJ, Fu YH. A Cryptochrome 2 Mutation Yields Advanced Sleep Phase in Human. Elife. 5. PMID 27529127 DOI: 10.7554/Elife.16695  0.513
2016 Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptáček LJ, et al. A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. Proceedings of the National Academy of Sciences of the United States of America. PMID 26903630 DOI: 10.1073/pnas.1600039113  0.483
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  0.453
2014 Lin S, Zhang L, Lin X, Zhang LC, Garcia VE, Tsai C, Ptáček L, Fu Y. Author response: Nuclear envelope protein MAN1 regulates clock through BMAL1 Elife. DOI: 10.7554/Elife.02981.022  0.453
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  0.416
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  0.353
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  0.403
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  0.432
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  0.457
2012 Lee H, Pothos E, Hess EJ, Fu Y, Edwards R, Ptacek L. Dopamine Dysregulation in a Mouse Model of Paroxysmal Non-Kinesigenic Dyskinesia (IN6-1.003) Neurology. 78: IN6-1.003-IN6-1.003. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In6-1.003  0.425
2012 Lee H, Huang Y, Edwards R, Hanna M, Bowcock A, Szepetowski P, Fu Y, Ptacek L. Mutations in the Novel Protein PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (IN10-2.005) Neurology. 78: IN10-2.005-IN10-2.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-2.005  0.531
2012 Ptacek L, Shen Y, Fu Y. PNKD Functions in RIM-Dependent Pathway To Regulate Exocytosis (IN10-2.004) Neurology. 78: IN10-2.004-IN10-2.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-2.004  0.477
2012 Ptacek L, Shen Y, Fu Y. Mutations in PNKD Causing Paroxysmal Dyskinesia Alters Protein Cleavage and Stability (IN10-1.005) Neurology. 78: IN10-1.005-IN10-1.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-1.005  0.509
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  0.475
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  0.466
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  0.406
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  0.415
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  0.459
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  0.4
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  0.404
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  0.408
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  0.311
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  0.498
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  0.452
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  0.493
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  0.395
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  0.43
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  0.441
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  0.531
2007 Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics. 80: 69-75. PMID 17160895 DOI: 10.1086/510439  0.371
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  0.447
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  0.424
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  0.378
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  0.465
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  0.374
2006 Çaksen H, Ptacek L, Üner A, Fu YH, Erol M, Anlar O, Yilmaz C, Sami Güven A. Report of a Turkish girl with Andersen-Tawil syndrome Journal of Pediatric Neurology. 4: 279-282. DOI: 10.1055/S-0035-1557332  0.486
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  0.454
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  0.371
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  0.429
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  0.409
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  0.408
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  0.533
2005 Uyama E, Fu YH, Ptácek LJ. Familial adult myoclonic epilepsy (FAME). Advances in Neurology. 95: 281-8. PMID 15508931  0.381
2005 Freudenberg J, Fu YH, Ptáček LJ. Approaching inherited disease on a genomic scale Current Genomics. 6: 545-549. DOI: 10.2174/138920205775067693  0.355
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 DOI: 10.1212/01.Wnl.0000147298.05983.50  0.449
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 DOI: 10.1212/01.WNL.0000143383.91137.00  0.484
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  0.445
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  0.41
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  0.438
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  0.491
2003 Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. American Journal of Human Genetics. 73: 1459-64. PMID 14624391 DOI: 10.1086/380314  0.349
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  0.456
2003 Ptácek LJ, Fu YH. What's new in epilepsy genetics? Molecular Psychiatry. 8: 463-5. PMID 12808423 DOI: 10.1038/sj.mp.4001292  0.388
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 DOI: 10.1212/01.WNL.0000072261.14060.47  0.478
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 DOI: 10.1001/Archneur.60.1.97  0.449
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  0.414
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  0.442
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  0.475
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 DOI: 10.1523/Jneurosci.22-12-04897.2002  0.438
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 DOI: 10.1212/Wnl.58.8.1266  0.473
2002 Ptácek LJ, Fu YH. Molecular biology of episodic movement disorders. Advances in Neurology. 89: 453-8. PMID 11968469  0.374
2001 Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 42: 35-43. PMID 11887966 DOI: 10.1002/0470846682.Ch7  0.489
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 DOI: 10.1093/Hmg/10.24.2821  0.427
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  0.453
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  0.441
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  0.462
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  0.491
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  0.426
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  0.52
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 DOI: 10.1093/Hmg/9.5.787  0.449
1998 Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Human Molecular Genetics. 7: 1851-8. PMID 9811928 DOI: 10.1093/Hmg/7.12.1851  0.314
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  0.383
1997 Meola G, Sansone V, Radice S, Skradski S, Ptacek L. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscular Disorders : Nmd. 6: 143-50. PMID 8784800 DOI: 10.1016/0960-8966(95)00040-2  0.34
1993 Gouw L, Digre K, Harris C, Mamalis N, Ptáček L. AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIA: Olivopontocerebellar Atrophy Locus Heterogeneity Reflects Phenotypic Variation Journal of Neuropathology and Experimental Neurology. 52: 292. DOI: 10.1097/00005072-199305000-00128  0.323
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