cached image

Ying-Hui Fu - Publications

University of California, San Francisco, San Francisco, CA 
human neurogenetics

132 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
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2015 Zhang L, Ptá?k LJ, Fu YH. Nuclear envelope regulates the circadian clock. Nucleus (Austin, Tex.). 6: 114-7. PMID 25746393 DOI: 10.1080/19491034.2015.1010949  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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, ... ... Fu YH, 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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2009 He Y, Jones CR, Fujiki N, Xu Y, Guo B, Holder JL, Rossner MJ, Nishino S, Fu YH. The transcriptional repressor DEC2 regulates sleep length in mammals. Science (New York, N.Y.). 325: 866-70. PMID 19679812 DOI: 10.1126/science.1174443  0.52
2009 Duan XW, Fu YH, Lu Y, Huang CY, Ju C, Xu B, Xu XN, Feng Z, Hu W. [Immunoscreening and identification of Schistosoma japonicum juvenile cDNA library]. Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi = Chinese Journal of Parasitology & Parasitic Diseases. 27: 80-2. PMID 19459509  0.52
2009 Lin ST, Fu YH. miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Disease Models & Mechanisms. 2: 178-88. PMID 19259393 DOI: 10.1242/dmm.001065  0.52
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  0.52
2008 Fu YH. Oscillating per-cision. Plos Biology. 6: e192. PMID 18666835 DOI: 10.1371/journal.pbio.0060192  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2006 Ptacek L, Koeppen AH, Fu YH. Reply [3] Annals of Neurology. 60: 486. DOI: 10.1002/ana.21005  0.52
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.  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2005 Uyama E, Fu YH, Ptácek LJ. Familial adult myoclonic epilepsy (FAME). Advances in Neurology. 95: 281-8. PMID 15508931  0.52
2005 Freudenberg J, Fu YH, Ptáček LJ. Approaching inherited disease on a genomic scale Current Genomics. 6: 545-549. DOI: 10.2174/138920205775067693  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2003 Ptácek LJ, Fu YH. What's new in epilepsy genetics? Molecular Psychiatry. 8: 463-5. PMID 12808423 DOI: 10.1038/  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
2002 Ptácek LJ, Fu YH. Molecular biology of episodic movement disorders. Advances in Neurology. 89: 453-8. PMID 11968469  0.52
2001 Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 42: 35-43. PMID 11887966  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
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  0.52
1999 Neylon CB, Lang RJ, Fu Y, Bobik A, Reinhart PH. Molecular cloning and characterization of the intermediate-conductance Ca(2+)-activated K(+) channel in vascular smooth muscle: relationship between K(Ca) channel diversity and smooth muscle cell function Circulation Research. 85: e33-43. PMID 10532960  0.52
1998 Hisama FM, Oshima J, Yu CE, Fu YH, Mulligan J, Weissman SM, Schellenberg GD. Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region. Genomics. 52: 352-7. PMID 9790753 DOI: 10.1006/geno.1998.5475  0.52
1997 Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD. Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. American Journal of Human Genetics. 60: 330-41. PMID 9012406  0.52
1996 Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Positional cloning of the Werner's syndrome gene. Science (New York, N.Y.). 272: 258-62. PMID 8602509  0.52
1995 Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science (New York, N.Y.). 269: 973-7. PMID 7638622  0.52
1995 Fu YH, Feng B, Evans S, Marzluf GA. Sequence-specific DNA binding by NIT4, the pathway-specific regulatory protein that mediates nitrate induction in Neurospora. Molecular Microbiology. 15: 935-42. PMID 7596294 DOI: 10.1111/j.1365-2958.1995.tb02362.x  0.52
1994 Roses AD. Muscle biochemistry and a genetic study of myotonic dystrophy. Science (New York, N.Y.). 264: 587-8. PMID 8160018  0.52
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  0.52
1993 Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science (New York, N.Y.). 260: 235-8. PMID 8469976  0.52
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  0.52
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  0.52
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  0.52
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  0.52
1992 Kanaan MN, Fu YH, Marzluf GA. The DNA-binding domain of the Cys-3 regulatory protein of Neurospora crassa is bipartite. Biochemistry. 31: 3197-203. PMID 1532511  0.52
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  0.52
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  0.52
1991 Yuan GF, Fu YH, Marzluf GA. nit-4, a pathway-specific regulatory gene of Neurospora crassa, encodes a protein with a putative binuclear zinc DNA-binding domain. Molecular and Cellular Biology. 11: 5735-45. PMID 1840634  0.52
1991 Okamoto PM, Fu YH, Marzluf GA. Nit-3, the structural gene of nitrate reductase in Neurospora crassa: nucleotide sequence and regulation of mRNA synthesis and turnover. Molecular & General Genetics : Mgg. 227: 213-23. PMID 1829499 DOI: 10.1007/BF00259673  0.52
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  0.52
1991 Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 65: 905-14. PMID 1710175 DOI: 10.1016/0092-8674(91)90397-H  0.52
1990 Fu YH, Marzluf GA. Site-directed mutagenesis of the 'zinc finger' DNA-binding domain of the nitrogen-regulatory protein NIT2 of Neurospora. Molecular Microbiology. 4: 1847-52. PMID 2150539 DOI: 10.1111/j.1365-2958.1990.tb02033.x  0.52
1990 Lee H, Fu YH, Marzluf GA. Nucleotide sequence and DNA recognition elements of alc, the structural gene which encodes allantoicase, a purine catabolic enzyme of Neurospora crassa. Biochemistry. 29: 8779-87. PMID 2148685  0.52
1990 Fu YH, Marzluf GA. nit-2, the major positive-acting nitrogen regulatory gene of Neurospora crassa, encodes a sequence-specific DNA-binding protein. Proceedings of the National Academy of Sciences of the United States of America. 87: 5331-5. PMID 2142530  0.52
1990 Fu YH, Marzluf GA. cys-3, the positive-acting sulfur regulatory gene of Neurospora crassa, encodes a sequence-specific DNA-binding protein. The Journal of Biological Chemistry. 265: 11942-7. PMID 2142156  0.52
1990 Fu YH, Marzluf GA. nit-2, the major nitrogen regulatory gene of Neurospora crassa, encodes a protein with a putative zinc finger DNA-binding domain. Molecular and Cellular Biology. 10: 1056-65. PMID 2137552  0.52
1990 Jarai G, Yagmai B, Fu YH, Marzluf GA. Regulation of branched-chain amino acid biosynthesis in Neurospora crassa: cloning and characterization of the leu-1 and ilv-3 genes. Molecular & General Genetics : Mgg. 224: 383-8. PMID 1980003 DOI: 10.1007/BF00262432  0.52
1990 Lee H, Fu YH, Marzluf GA. Molecular cloning and characterization of alc the gene encoding allantoicase of Neurospora crassa. Molecular & General Genetics : Mgg. 222: 140-4. PMID 1978237 DOI: 10.1007/BF00283035  0.52
1989 Fu YH, Kneesi JY, Marzluf GA. Isolation of nit-4, the minor nitrogen regulatory gene which mediates nitrate induction in Neurospora crassa. Journal of Bacteriology. 171: 4067-70. PMID 2567729  0.52
1989 Fu YH, Paietta JV, Mannix DG, Marzluf GA. cys-3, the positive-acting sulfur regulatory gene of Neurospora crassa, encodes a protein with a putative leucine zipper DNA-binding element. Molecular and Cellular Biology. 9: 1120-7. PMID 2524646  0.52
1988 Fu YH, Marzluf GA. Metabolic control and autogenous regulation of nit-3, the nitrate reductase structural gene of Neurospora crassa. Journal of Bacteriology. 170: 657-61. PMID 2962990  0.52
1988 Fu YH, Young JL, Marzluf GA. Molecular cloning and characterization of a negative-acting nitrogen regulatory gene of Neurospora crassa. Molecular & General Genetics : Mgg. 214: 74-9. PMID 2906403 DOI: 10.1007/BF00340182  0.52
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  0.52
Show low-probability matches.