| Year |
Citation |
Score |
| 2024 |
Zou X, Ptáček LJ, Fu YH. The Genetics of Human Sleep and Sleep Disorders. Annual Review of Genomics and Human Genetics. PMID 38669479 DOI: 10.1146/annurev-genom-121222-120306 |
0.559 |
|
| 2024 |
Levine DC, Ptáček LJ, Fu YH. A metabolic perspective to sleep genetics. Current Opinion in Neurobiology. 86: 102874. PMID 38582021 DOI: 10.1016/j.conb.2024.102874 |
0.552 |
|
| 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 |
0.529 |
|
| 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 |
0.502 |
|
| 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, ... ... Fu YH, 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 |
0.505 |
|
| 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 |
0.582 |
|
| 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 |
0.554 |
|
| 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 |
0.564 |
|
| 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 |
0.543 |
|
| 2021 |
Gentry NW, Ashbrook LH, Fu YH, Ptáček LJ. Human circadian variations. The Journal of Clinical Investigation. 131. PMID 34396981 DOI: 10.1172/JCI148282 |
0.506 |
|
| 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 |
0.444 |
|
| 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 |
0.573 |
|
| 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 |
0.566 |
|
| 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 |
0.604 |
|
| 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 |
0.612 |
|
| 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 |
0.601 |
|
| 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 |
0.59 |
|
| 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 |
0.637 |
|
| 2019 |
Fu Y, Ptacek LJ. Molecular Genetics of Human Sleep Behaviors The Faseb Journal. 33. DOI: 10.1096/Fasebj.2019.33.1_Supplement.344.4 |
0.342 |
|
| 2019 |
Curtis BJ, Ashbrook LH, Young TB, Finn L, Fu Y, Ptacek LJ, Jones CR. 0153 Extreme Morning Chronotypes Are Often Familial And Not Exceedingly Rare: The Estimated Prevalence Of Familial Advanced Sleep Phase (FASP) In A Sleep Clinic Population Sleep. 42: A62-A63. DOI: 10.1093/SLEEP/ZSZ067.152 |
0.334 |
|
| 2018 |
Zhang L, Fu YH. The Molecular Genetics of Human Sleep. The European Journal of Neuroscience. PMID 30144347 DOI: 10.1111/ejn.14132 |
0.365 |
|
| 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 |
0.588 |
|
| 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 |
0.608 |
|
| 2018 |
Ptáček LJ, Fu Y. Decision letter: Cold-inducible RNA-binding protein (CIRBP) adjusts clock-gene expression and REM-sleep recovery following sleep deprivation Elife. DOI: 10.7554/Elife.43400.037 |
0.344 |
|
| 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, ... ... Fu YH, et al. Guidelines for Genome-Scale Analysis of Biological Rhythms. Journal of Biological Rhythms. 748730417728663. PMID 29098954 DOI: 10.1177/0748730417728663 |
0.477 |
|
| 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 |
0.609 |
|
| 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 |
0.601 |
|
| 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 |
0.558 |
|
| 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 |
0.595 |
|
| 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, Fu YH, 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 |
0.572 |
|
| 2016 |
Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptáček LJ, Fu Y. Author response: A Cryptochrome 2 mutation yields advanced sleep phase in humans Elife. DOI: 10.7554/Elife.16695.018 |
0.367 |
|
| 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 |
0.482 |
|
| 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 |
0.343 |
|
| 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 |
0.539 |
|
| 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 |
0.56 |
|
| 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 |
0.514 |
|
| 2013 |
Hallows WC, PtáÄek 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 |
0.397 |
|
| 2013 |
Zhang L, PtáÄek 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 |
0.384 |
|
| 2013 |
Kurien PA, Chong SY, PtáÄek 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 |
0.346 |
|
| 2013 |
Russell JF, Fu YH, PtáÄek LJ. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annual Review of Neuroscience. 36: 25-50. PMID 23642134 DOI: 10.1146/Annurev-Neuro-062012-170300 |
0.342 |
|
| 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 |
0.556 |
|
| 2012 |
Zhang L, Abraham D, Lin ST, Oster H, Eichele G, Fu YH, PtáÄek 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 |
0.325 |
|
| 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, ... ... Fu YH, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology. 79: 2097-103. PMID 23077017 DOI: 10.1212/WNL.0b013e3182752c46 |
0.515 |
|
| 2012 |
Huang Y, Chong SY, Fu YH. Common polymorphisms for the time of living and death? Annals of Neurology. 72: 303-4. PMID 23034905 DOI: 10.1002/ana.23667 |
0.307 |
|
| 2012 |
Chong SY, PtáÄek 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 |
0.391 |
|
| 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, ... ... Fu YH, et al. Familial cortical myoclonus with a mutation in NOL3. Annals of Neurology. 72: 175-83. PMID 22926851 DOI: 10.1002/Ana.23666 |
0.323 |
|
| 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 |
0.582 |
|
| 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 |
0.506 |
|
| 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 |
0.595 |
|
| 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 |
0.555 |
|
| 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 |
0.578 |
|
| 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 |
0.565 |
|
| 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 |
0.592 |
|
| 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 |
0.546 |
|
| 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 |
0.559 |
|
| 2010 |
Padiath QS, Fu YH. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods in Cell Biology. 98: 337-57. PMID 20816241 DOI: 10.1016/S0091-679X(10)98014-X |
0.361 |
|
| 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 |
0.537 |
|
| 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 |
0.545 |
|
| 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 |
0.498 |
|
| 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 |
0.553 |
|
| 2008 |
Kilduff TS, Lein ES, de la Iglesia H, Sakurai T, Fu YH, Shaw P. New developments in sleep research: molecular genetics, gene expression, and systems neurobiology. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 11814-8. PMID 19005045 DOI: 10.1523/Jneurosci.3768-08.2008 |
0.37 |
|
| 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 |
0.583 |
|
| 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 |
0.588 |
|
| 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, ... Fu YH, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 68: 1782-9. PMID 17515540 DOI: 10.1212/01.wnl.0000262029.91552.e0 |
0.566 |
|
| 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 |
0.544 |
|
| 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 |
0.514 |
|
| 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 |
0.573 |
|
| 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 |
0.607 |
|
| 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 |
0.582 |
|
| 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 |
0.51 |
|
| 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 |
0.526 |
|
| 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 |
0.539 |
|
| 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 |
0.556 |
|
| 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 |
0.548 |
|
| 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 |
0.468 |
|
| 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 |
0.515 |
|
| 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 |
0.499 |
|
| 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 |
0.503 |
|
| 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 |
0.61 |
|
| 2005 |
Uyama E, Fu YH, Ptácek LJ. Familial adult myoclonic epilepsy (FAME). Advances in Neurology. 95: 281-8. PMID 15508931 |
0.476 |
|
| 2005 |
Freudenberg J, Fu YH, Ptáček LJ. Approaching inherited disease on a genomic scale Current Genomics. 6: 545-549. DOI: 10.2174/138920205775067693 |
0.512 |
|
| 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 |
0.53 |
|
| 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 |
0.556 |
|
| 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 |
0.571 |
|
| 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 |
0.499 |
|
| 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, ... ... Fu YH, 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 |
0.573 |
|
| 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 |
0.605 |
|
| 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 |
0.534 |
|
| 2003 |
Ptácek LJ, Fu YH. What's new in epilepsy genetics? Molecular Psychiatry. 8: 463-5. PMID 12808423 DOI: 10.1038/sj.mp.4001292 |
0.534 |
|
| 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 |
0.551 |
|
| 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 |
0.588 |
|
| 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 |
0.507 |
|
| 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 |
0.57 |
|
| 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 |
0.548 |
|
| 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 |
0.522 |
|
| 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 |
0.546 |
|
| 2002 |
Ptácek LJ, Fu YH. Molecular biology of episodic movement disorders. Advances in Neurology. 89: 453-8. PMID 11968469 |
0.472 |
|
| 2001 |
Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 42: 35-43. PMID 11887966 DOI: 10.1002/0470846682.Ch7 |
0.557 |
|
| 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 |
0.566 |
|
| 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 |
0.541 |
|
| 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 |
0.569 |
|
| 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 |
0.548 |
|
| 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, ... ... Fu YH, 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 |
0.603 |
|
| 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 |
0.565 |
|
| 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 |
0.64 |
|
| 2001 |
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu YH, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein American Journal of Human Genetics. 68: 577-589. PMID 11179006 DOI: 10.1086/318811 |
0.351 |
|
| 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 |
0.534 |
|
| 1996 |
Fu YH. Identification of a novel protein, DMAP, which interacts with the myotonic dystrophy protein kinase and shows strong homology to D1 snRNP. Genetica. 97: 117-25. PMID 8851885 DOI: 10.1007/Bf00132588 |
0.303 |
|
| 1993 |
Perryman MB, Friedman DL, Fu YH, Caskey CT. Molecular genetics of myotonic dystrophy. Trends in Cardiovascular Medicine. 3: 82-4. PMID 21244944 DOI: 10.1016/1050-1738(93)90028-5 |
0.433 |
|
| 1993 |
Redman JB, Fenwick RG, Fu YH, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. Jama. 269: 1960-5. PMID 8464127 DOI: 10.1001/jama.1993.03500150072029 |
0.474 |
|
| 1992 |
Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Intragenic probe used for diagnostics in fragile X families. American Journal of Medical Genetics. 43: 192-6. PMID 1605192 DOI: 10.1002/Ajmg.1320430132 |
0.37 |
|
| 1992 |
Caskey CT, Pizzuti A, Fu YH, Fenwick RG, Nelson DL. Triplet repeat mutations in human disease. Science (New York, N.Y.). 256: 784-9. PMID 1589758 DOI: 10.1126/Science.1589758 |
0.533 |
|
| 1992 |
Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science (New York, N.Y.). 255: 1256-8. PMID 1546326 DOI: 10.1126/Science.1546326 |
0.325 |
|
| 1992 |
Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 42: 1877-83. PMID 1407566 DOI: 10.1212/Wnl.42.10.1877 |
0.402 |
|
| 1991 |
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 66: 817-22. PMID 1878973 DOI: 10.1016/0092-8674(91)90125-I |
0.547 |
|
| 1991 |
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG, Warren ST. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 67: 1047-58. PMID 1760838 DOI: 10.1016/0092-8674(91)90283-5 |
0.342 |
|
| 1987 |
Fu YH, Marzluf GA. Molecular cloning and analysis of the regulation of nit-3, the structural gene for nitrate reductase in Neurospora crassa. Proceedings of the National Academy of Sciences of the United States of America. 84: 8243-7. PMID 2891138 DOI: 10.1073/Pnas.84.23.8243 |
0.302 |
|
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