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We are focused on studying genetic disorders of brain, nerve & muscle. Through better understanding of neurological disorders will come better diagnoses and treatments.

ying-hui fu's & louis ptáček's

ying-hui fu, ph.d.

Professor, Department of Neurology

School of Medicine

University of California San Francisco
Fu & Ptáček Laboratories, MC 2922
1550 Fourth St., Room 548B
San Francisco, CA 94158-2324
USA
Phone: +1.415.502.5614
Fax: +1.415.502.5641
email: yhf@neugenes.org

EDUCATION

EMPLOYMENT

PrINCIPAL POSITIONS HELD

ANCILLARY POSITIONS HELD

PROFESSIONAL ACTIVITIES

MEMBERSHIP IN PROFESSIONAL ORGANIZATIONS

SERVICE TO PROFESSIONAL PUBLICATIONS

TEACHING

PhD candidates Supervised or mentored

POSTdoctoral FELLOWS Supervised OR MENTORED

KEYWORDS/AREAS OF INTEREST: Circadian rhythm, Sleep disorders, Multiple Sclerosis, Leukodystrophy, Polyglutamine disorders, Epilepsy.

RESEARCH PROGRAM

I am interested in understanding the mechanisms of various diseases involving the nervous system. In particular, there are two classes of neurological diseases that I am focusing on: demyelinating degenerative diseases and circadian rhythm disorders. My group has been using human genetic tools to identify genes involved in these disorders. Studying the disease mechanisms following the discovery of the genes will lead to unraveling of the pathogenesis of these disorders.

Multiple Sclerosis: Multiple sclerosis is a common, often severe neurologic disorder for which the cause, cure and prevention are unknown and for which no specific diagnostic test exists. We are currently working on two projects that relate to demyelinating degenerative diseases of the nervous system.

1) Autosomal dominant leukodystropny (ADLD) is clinically similar to the chronic progressive form of MS. Misdiagnosis of ADLD patients as having MS is common although ADLD and MS are readily distinguishable at autopsy. Many clinical features of this leukodystrophy are similar to those of MS including nystagmus, dysarthria, sensory loss, weakness, spasticity, hyperreflexia, and dysmetria. Further, cognitive and visual pathway abnormalities similar to those of MS are present in some of the ADLD patients. Bowel, bladder, and sexual dysfunction are common and are of roughly equal severity in both disorders. However, ADLD patients often have syncope and prolonged lethargic states due to postural hypotension caused by early and significant autonomic nervous system involvement. Further, the strong Mendelian pattern of transmission of this disorder should be helpful in distinguishing it from chronic progressive MS. While familial clustering of MS exists, no large autosomal dominant families have been recognized. We have already identified the responsible mutation for this disorder and are in the process of characterizing the functional role of the mutation.

2) Multiple Sclerosis Associated with a Chromosomal Translocation. This phenotype is co-segregating with a balanced chromosome translocation. We also have identified the responsible mutation for this disorder. Functional characterization for this mutation is underway. For both of these disorders, generation of these mouse models is almost complete. My long-term goal is to understand molecular mechanism of dysmyelination in these diseases (and of myelin synthesis, degeneration, and regeneration in general). Evidence has indicated that MS is a complex trait caused by interactions of genetic and environmental factors. An intensive effort has been made to identify the major genes influencing MS susceptibility but has yielded limited results. Whole-genome screen in MS families has proven to be more difficult and complicated than predicted. I am approaching this problem by studying rare monogenic disorders with an MS or MS-like phenotype to lead me toward pathogenic mechanisms of more common mechanisms of myelin biology and disease forms of MS.

Human Circadian Rhythm Genetics: Another area of my research interest is in the study of circadian rhythm. Circadian rhythm is one of the best models for studying human behavior. When we say “Genetics is everything", it may not be so far-fetched in truth if we come to recognize how much our behaviors are impacted by our genetic composition. Many of our physiological processes including heart beat, blood pressure, body temperature, and endocrine functions are subject to circadian regulation. However, the regulation of the overall behavior of an organism is the most overt and intriguing manifestation of circadian rhythmicity. The pursuit of the genetic and molecular basis of behavior is extremely complex because of the wide variation in "normal" individuals. Furthermore, behaviors such as sleep are confounded by social and familio-cultural influences that frequently lead us to override our biological clock and stay up later or to wake up earlier than we otherwise would. Various agents including caffeine and alcohol also confound one's ability to understand the inherent rhythms dictating humans' activities. We have identified several mutations that are involved in regulation of human rhythmicity. Molecular studies in in vitro systems as well as in model organisms with human mutations are intensely pursued. My long-term goal for this particular project is to find more mutations that are affecting the human sleep pattern and to characterize these mutations to assist us in understanding the human circadian clock.

PEER REVIEWED PUBLICATIONS

1. Fu Y-H, Marzluf GA. Characterization of nit‑2, the major nitrogen regulatory gene of Neurospora crassa. Mol Cell Biol. 1987 May, 7(5):1691‑6.

2. Fu Y-H, Marzluf GA. Molecular cloning and analysis of the regulation of nit‑3, the structural gene for nitrate reductase in Neurospora crassa. Proc Natl Acad Sci USA. 1987 Dec, 84(23):8243‑7.

3. Fu Y-H, Marzluf GA. Metabolic control and autogenous regulation of nit‑3, the nitrate reductase structural gene of Neurospora crassa. J Bacteriol. 1988 Feb, 170(2):657‑61.

4. Fu Y-H, Young JL, Marzluf GA. Molecular cloning and characterization of a negative‑acting nitrogen regulatory gene of Neurospora crassa. Mol Gen Genet. 1988 Sep, 214(1):74‑9.

5. Fu Y-H, 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. Mol Cell Biol. 1989 Mar, 9(3):1120‑7.

6. Fu Y-H, Kneesi JY, Marzluf GA. Isolation of nit‑4, the minor nitrogen regulatory gene which mediates nitrate induction in Neurospora crassa. J Bacteriol. 1989 Jul, 171(7):4067‑70.

7. Young JL, Jarai G, Fu Y-H, Marzluf GA. Nucleotide sequence and analysis of NMR, a negative‑acting regulatory gene in the nitrogen circuit of Neurospora crassa. Mol Gen Genet. 1990 Jun, 222(1):120‑8.

8. Lee HJ, Fu Y-H, Marzluf GA. Molecular cloning and characterization of alc, the gene encoding allantoicase of Neurospora crassa. Mol Gen Genet. 1990 Jun, 222(1):140‑4.

9. Fu Y-H, Marzluf GA. cys-3, the positive-acting sulfur regulatory gene of Neurospora crassa, encodes a sequence-specific DNA-binding protein. J Biol Chem. 1990 Jul 15, 265:11942‑7.

10. Fu Y-H, Marzluf GA. nit-2, the major nitrogen regulatory gene of Neurospora crassa, encodes a protein with a putative zinc finger DNA-binding domain. Mol Cell Biol. 1990 Mar, 10(3):1056‑65.

11. Fu Y-H, Marzluf GA. nit‑2, the major positive-acting nitrogen regulatory gene of Neurospora crassa encodes a sequence specific DNA‑binding protein. Proc Natl Acad Sci USA. 1990 Jul, 87(14):5331‑5.

12. Jarai G, Yagmai B, Fu Y-H, Marzluf GA. Regulation of branched‑chain amino acids biosynthesis in Neurospora crassa: cloning and characterization of the leu‑1and ilv‑3 genes. Mol Gen Genet. 1990 Dec, 224(3):383‑8.

13. Lee HJ, Fu Y-H, Marzluf GA. Nucleotide sequence and DNA recognition elements of alc, the structural gene which encodes allantoicase, a purine catabolic enzyme of Neurospora crassa. Biochemistry. 1990 Sep 18, 29(37):8779‑86.

14. Fu Y-H, Marzluf GA. Site‑directed mutagenesis of the 'zinc finger' DNA‑binding domain of the nitrogen-regulatory protein nit-2 of Neurospora crassa. Mol Microbiol. 1990 Nov, 4(11):1847‑52.

15. Ketter JS, Jarai G, Fu Y-H, Marzluf GA. Nucleotide sequence, messenger RNA stability, and DNA recognition elements of cys‑14, the structural gene for sulfate permease II in Neurospora crassa. Biochemistry. 1991 Feb 19, 30(7):1780‑7.

16. Okamoto PM, Fu Y-H, Marzluf GA. nit-3, the structural gene of nitrate reductase in Neurospora crassa: nucleotide sequence and regulation of mRNA synthesis and turnover. Mol Gen Genet. 1991 Jun, 227(2):213‑23.

17. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, vanOmmen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST. Identification of a gene (FMR‑1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991 May 31, 65(5):904‑14.

18. Pieretti M, Zhang FP, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. Absence of expression of the FMR‑1 gene in fragile X syndrome. Cell. 1991 Aug 23, 66(4):817‑22.

19. Yuan GF, Fu Y-H, Marzluf GA. nit‑4, a pathway‑specific regulatory gene of Neurospora crassa, encodes a protein with a putative binuclear zinc DNA‑binding domain. Mol Cell Biol. 1991 Nov, 11(11):5735‑45.

20. Fu Y-H, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991 Dec 20, 67(6):1047‑56.

21. Kanaan MN, Fu Y-H, Marzluf GA. The DNA‑binding domain of the Cys‑3 regulatory protein of Neurospora crassa is bipartite. Biochemistry. 1992 Mar 31, 31(12):3197‑3203.

22. Verkerk AJ, deVries BB, Niermeijer MF, Fu Y-H, Nelson DL, Warren ST, Majoor‑Krakauer DF, Halley DJ, Oostra BA. Intragenic probe used for diagnostics in fragile X families. Am J Med Genet. 1992 Apr 15-May 1, 43(1-2):192‑6.

23. Fu Y-H, Pizzuti A, Fenwick RG Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, DeJong P, Wieringa B, Korneluk R, Perryman BM, Epstein HF, Caskey CT. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992, 255:1256‑8.

24. Caskey CT, Pizzuti A, Fu Y-H, Fenwick RG Jr, Nelson DL. Triplet repeat mutations in human disease. Science. 1992 May 8, 256(5058):784‑9.

25. Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu Y-H, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, Hejtmancik JF. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology. 1992 Oct, 42(10):1877‑83.

26. Redman JB, Fenwick RG Jr, Fu Y-H, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA. 1993 Apr 21, 269(15):1960‑5.

27. Perryman MB, Friedman DL, Fu Y-H, Caskey CT. Molecular mechanism of myotonic dystrophy. Trends in Cardiovascular Medicine. 1993.

28. Fu Y-H, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Fenwick RG Jr, Caskey CT. Decreased expression of myotonin‑protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science. 1993 Apr 9, 260(5105):235‑8.

29. Fu Y-H, Feng B, Evans S, Marzluf GA. Sequence-specific DNA binding by NIT4, the pathway‑specific regulatory protein that mediates nitrate induction in Neurospora. Mol Microbiol. 1995 Mar, 15(5):935‑42.

30. Xiao X, Fu Y-H, Marzluf GA. The negative‑acting NMR regulatory protein of Neurospora crassa binds to and inhibits the DNA‑binding activity of the positive‑acting nitrogen regulatory protein NIT2. Biochemistry. 1995 Jul 11, 34(27):8861‑8.

31. Levy‑Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wejsman EM, Bird TD, Schellenberg GD, Tanzi RE. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995, 269:973‑7.

32. Fu Y-H. Identification of a novel protein, DMAP, which interacts with the myotonic dystrophy protein kinase and shows strong homology to D1 snRNP. Genetica. 1996 Jan, 97(1):117‑25.

33. Levy‑Lahad E, Poorkaj P, Wang K, Fu Y-H, Oshima J, Mulligan J, Schellenberg GD. Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene. Genomics. 1996 Jun 1, 34(2):198‑204.

34. Fu Y-H, Yu CE, Oshima J, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (The first three authors contributed equally). Positional cloning of the Werner’s syndrome gene. Science. 1996 Apr 12, 272(5259):258‑61.

35. Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu Y-H, Mulligan J, Martin GM, Schellenberg GD. Mutations in the consensus helicase domains of the Werner syndrome gene. Am J Hum Genet. 1997 Feb, 60(2):330‑41.

36. Hisama FM, Oshima J, Yu CE, Fu Y-H, Mulligan J, Weissman SM, Schellenberg GD. Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region. Genomic. 1998 Sep 15, 52(3):352-7.

37. Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptáček LJ, Fu Y-H. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet. 2000 Mar 22, 9(5):787-93.

38. Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptáček LJ, Fu Y-H. An hPer2 phosphorylation site mutation in familial advanced sleep-phase syndrome. Science. 2001 Feb 9, 291(5506):1040-3.

39. Einum DD, Townsend JJ, Ptáček LJ, Fu Y-H. Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics. 2001 Mar, 3(2):83-90.

40. Plaster NM, Tawil R, Tristani-Firouze M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr., Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu Y-H, Ptáček LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome. Cell. 2001, 105:511-9.

41. Skradski SL, Clark AM, Jiang H, White HS, Fu Y-H, Ptáček LJ. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 2001 Aug 30;31(4):537-44.

42. La Spada AR, Fu Y-H., 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, Ptáček LJ, Chen S. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 2001 Sep 27, 31(6):913-27.

43. Bendahhou S, Cummins TR, Griggs RC, Fu Y-H, Ptáček LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol. 2001 Sep, 50(3):417-20.

44. Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptáček LJ, Fu Y-H. Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum Mol Genet. 2001 Nov 15, 10(24):2821-31.

45. Bendahhou S, Cummins TR, Kula RW, Fu Y-H, Ptáček LJ. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology. 2002 Apr 23, 58(8):1266-72.

46. Garden GA, Libby RT, Fu Y-H, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptáček LJ, Sopher BL, La Spada AR. Polyglutamine-expanded ataxin-7 promotes non-cell autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002 Jun 15, 22 (12):4897-905.

47. Einum D, Clark AM, Townsend JJ, Ptáček LJ, Fu Y-H. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003, 60:97-103.

48. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu Y-H, Ptáček LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) J Clin Invest. 2002 Aug, 110(3):381-8.

49. Nakayama J, Fu Y-H, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptáček LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002 Nov, 52(5):654-7.

50. Libby RT, Monckton DG, Fu Y-H, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptáček 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. Hum Mol Genet. 2003 Jan 1, 12(1):41-50.

51. 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 Y-H, Ptáček LJ. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003, 60(11):1811-6.

52. Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu Y-H, Ptáček LJ. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 Dec 19;278(51):51779-85.

53. Donaldson MR, Yoon G, Fu Y-H, Ptáček LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004;36 Suppl 1:92-7.

54. Klein B, Fu Y-H, Ptáček LJ, White SH. c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse. Epilepsy Res. 2004 Nov;62(1):13-25.

55. Miller TM, Dias da Silva MR, Miller HA, Kwieciński H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu Y-H, Ptáček LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9;63(9):1647-55.

56. Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwieciński H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Bogaert PV, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu Y-H, Ptáček LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004 Dec 15;13(24):3161-70.

57. 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 Y-H, Ptáček LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28;63(12):2280-7.

58. Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptáček LJ, Fu Y-H. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature. 2005 Mar 31;434(7033):640-4.

59. Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu Y-H, Ackerman MJ, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 May 31;111(21):2720-6.

60. Klein BD, Fu Y-H, Ptáček, LJ, White HS. Auditory deficits associated with the frings Mgr1 (Mass1) mutation in mice. Dev Neurosci. 2005;27(5):321-32.

61. Yoon G, Baggaley S, Bachetti P, Fu Y-H, Digre KB, Ptáček LJ. Clinic-based study of family history of vascular risk factors and migraine. J Headache and Pain. 2005 Oct;6(5):412-6.

62. Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quintania L, Kramer JH, Miller BL, Fu Y-H, Ptáček LJ. Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype. Am J Med Genet. 2006 Feb 15;140(4):312-21.

63. Yoon G, Quitania L, Kramer JH, Fu Y-H, Miller BL, Ptáček LJ. Andersen-Tawil syndrome: definition of a neurocognitive phenotype. Neurology. 2006 Jun 13;66(11):1703-10.

64. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptáček LJ, Fu Y-H. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23. Epub 2006 Sep 3.

65. Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptáček LJ. Modeling of a human circadian mutation yields insights into clock regulation by PER2. Cell 2007 Jan;128:59-70.

66. Freudenberg J, Fu YH, Ptáček LJ. Bioinformatic analysis of human CNS-expressed ion channels as candidates for episodic nervous system disorders. Neurogenetics. 2007 Aug;8(3):159-68. Epub 2007 Feb 27.

67. Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptáček L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24;68(17):1382-9.

68. Freudenberg J, Fu YH, Ptáček LJ. Human recombination rates are increased around accelerated conserved regions--evidence for continued selection? Bioinformatics. 2007 Jun 15;23(12):1441-3. Epub 2007 Apr 26.

69. 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, Ptáček L. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9.

70. Freudenberg J, Fu YH, Ptáček LJ. Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection? Eur J Hum Genet. 2007 Jun 13; [Epub ahead of print]

71. Dias da Silva MR, Miller TM, Kwieciński H, Fu Y-H, Ptáček LJ. Myotonia congenita: correlating CLCN1 gene mutations with phenotypes (submitted).

circadian rhythm & sleep   |   episodic diseases   |   neurodegeneration

UCSF - Department of Neurology, MC 2922
Fu & Ptáček Laboratories

1550 Fourth St., Room 548

San Francisco, CA 94158-2324

USA

tel:  +1.415.502.5614

fax:  +1.415.502.5641

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