Informes
  Cómite Organizador
  Inscripciones
  Reservaciones Hotel / Avión
  Cursos Pre Congresos
  Programa Acompañantes
  Programa General
  Programa Congreso
  Profesores
  Simposio de Investigación
  Curso Cirugía Pedíatrica
  Simposios Patrocinadores
  Exposición Comercial
 
X Congreso Interamericano de Pediatría del Colegio de
Pediatría de N. L.
 III Congreso Nacional de Profesores de Pediatría
XII Congreso y Asamblea Anual de la Federación Noreste
III Curso Internacional de Cirugía Pediátrica
XVII Simposio de Investigación "Dr. Don Joaquín Cravioto Muñoz" 
Huda Y. Zoghbi, M. D.
HHMI Investigator, Baylor College of Medicine
Houston, Texas, USA
 Última actualización: 
  Lunes, 17 de Marzo de 2008 11:54:01 p.m.
 

CURRICULUM VITAE



 Huda Y. Zoghbi, M.D.

Professor, Departments of Pediatrics, Molecular

and Human Genetics, Neurology, and Neuroscience

Baylor College of Medicine

Department of Molecular and Human Genetics

One Baylor Plaza, T807, MS225

Houston, Texas 77030


 

Biographical

Birthplace: Beirut, Lebanon

Citizenship: United States (11/4/85, certificate number 12030579)

 

Education

1973-1975 B.Sc. in Biology, American University of Beirut

1975-1976 First year Medical School, American University of Beirut

1976-1979 M.D., Meharry Medical College, Nashville, Tennessee

(Transferred to Meharry because of the war in Lebanon)

2007 Honorary Doctorate of Science Degree, Middlebury College, Middlebury, VT


 

Postgraduate Training

1979-1982 Pediatric Resident, Baylor College of Medicine

1981-1982 Chief Resident in Pediatrics, Baylor College of Medicine

1982-1985 Resident in Neurology and Pediatric Neurology, Baylor College of Medicine

1985-1988 Postdoctoral Fellow/Research Assistant Professor in Department of Pediatrics and Institute of Molecular Genetics, Baylor College of Medicine


 

Academic Appointments


1988-1991 Assistant Professor, Department of Pediatrics and Institute for Molecular Genetics, Baylor College of Medicine

1991-1994 Associate Professor, Departments of Pediatrics; Molecular and Human Genetics; and Neuroscience, Baylor College of Medicine

1994-present Professor, Departments of Pediatrics; Molecular and Human
Genetics; Neurology; and Neuroscience Programs in Cell and Molecular Biology and Developmental Biology; Baylor College of Medicine

1996-present Investigator, Howard Hughes Medical Institute, Baylor College of Medicine


 

Certifications

American Board of Pediatrics (5/1984)

American Board of Psychiatry and Neurology (01/1987)


 

Honors and Awards

1978 Alpha Omega Alpha Medical Honor Society

1979 The Seibels R. Green, Jr. Memorial Award in Internal Medicine

1979 The E. Perry Crump Award in Pediatrics

1985 The Texas Neurologic Society, Neurologic Research Award

1985 Outstanding Fellow Award for Teaching from Baylor Pediatric Residents

1988 Child Neurology Society, Young Investigator Award

1994 The Derek Denny-Brown Neurological Scholar Award, American Neurological

Association

1994 Michael E. Debakey Excellence in Research Award, Baylor College of Medicine

1995 Kilby Award for Extraordinary Contributions to Society through Science, Technology, Innovation, Invention, and Education

1996 E. Mead Johnson Award, Society of Pediatric Research

1998 Sidney Carter Award, American Academy of Neurology

1998 Soriano Award, American Neurological Association

1998 Javits Award, NINDS Council, National Institutes of Health

2000 Jacob’s Ladder Prize, Jacob’s Ladder Foundation, Toronto, Canada

2000 Elected to the Institute of Medicine, National Academy of Sciences

  1. Bernard Sachs Award, Child Neurology Society

  2. Elected Fellow of the American Association for the Advancement of Science

2002 Raymond D. Adams Award, American Neurological Association

2004 Robert Wartenberg Award, American Academy of Neurology

2004 Elected to the National Academy of Sciences

2004 Neuronal Plasticity Prize, 4th Forum of European Science, IPSEN Foundation, Lisbon, Portugal

2004 Marta Philipson Award for Progress in Pediatrics, Philipson Foundation for Research, Stockholm, Sweden

2006 Bristol Myers-Squibb Neuroscience Distinguished Achievement Award, New Haven, CT

2007 ASO Science and Technology Lifetime Achievement Award, MIT, Boston, MA

2007 Robert J. and Claire Pasarow Foundation Award in Neuropsychiatry, Los Angeles, CA


 

professional societies

Alpha Omega Alpha

American Academy of Neurology

American Neurological Association

American Pediatric Society

American Society of Human Genetics

Child Neurology Society

The Society for Pediatric Research

National Academy for the Advancement of Science

Society of Neuroscience


 

review panels


 

Awards Committee for the Child Neurology Society, 1989-91

Scientific Advisory Committee for the International Rett Syndrome Association, 1989-present

Chairperson of the Committee for the CEPH Chromosome 6 Consortium Map, 1990-1996

Ad hoc reviewer, Mammalian Genetics Study Section, National Institutes of Health, 1993

Ad hoc reviewer, Mental Retardation Research Center Study Section, National Institutes of Health, 1993

Medical and Research Advisory Board of the National Ataxia Foundation, 1993-present

Panel to Assess the NIH Investment in Research on Gene Therapy, National Institutes of Health, 1995

Consulting Reviewer, The Wellcome Trust, London, England, 1995-present

Scientific Issues Committee, American Academy of Neurology, 1995-99

Telethon Scientific Advisory Board, Rome, Italy, 1996-1997

Advisory Panel of the James S. McDonnell Foundation Centennial Fellow Awards Program, 1996-98

Merck Board of Scientific Advisors 1996-2004

Organized Workshop: “Biology of Trinucleotide Repeat Disease” at the 1997 Annual Meeting of the American Society of Human Genetics

NINDS Board of Scientific Counselors, Division of Intramural Research 1997-99

Scientific Advisory Board, Hereditary Disease Foundation, 1997-2000

Advisory Panel of the James S. McDonnell Foundation Bridging Brain, Behavior, and Mind Awards Program, 1999-2005

Mammalian Genetics Study Section, National Institutes of Health, 1999-03

Co-Organizer, Keystone Symposium 2000 Genetic Bases of Brain Development and Dysfunction

Co-Organizer, Keystone Symposium 2001 Neurodegenerative Diseases

Sidney Carter Award Subcommittee, American Academy of Neurology 2001-03

The McKnight Endowment Fund for Neuroscience Board of Directors 2003-present

Co-Organizer Annual Scientific Symposium on Rett Syndrome Research Foundation 2003-2007t

Chair, Sidney Carter Award Subcommittee, American Academy of Neurology 2003-present

Member, NINDS Council 2003-2007

Member, The Rosalind Franklin Young Investigator Award Committee, 2004-present

Member, U.S. National Committee for the International Brain Research Organization, 2004-2007

Member, Lasker Foundation Jury 2005-present

Co-Organizer, Keystone Symposium 2007 Molecular Mechanisms of Neurodegeneration


 

editorial responsibilities

Editorial Board, Annals of Neurology, 1990-1995

Editorial Board, American Journal of Human Genetics 1998-2002

Editorial Board, Human Molecular Genetics January 1998-2005

Editorial Board, Neuron 2000-present

Editorial Board, Science, 2002-present

Editorial Board, PloS, 2003-present

Associate Editor, Neuroscience Letters 2004-2007

Guest Editor for Mental Retardation and Developmental Disabilities Research Reviews: special issue on Rett syndrome and related diseases (2001)

Reviewer for: Annals of Neurology, Cell, Genomics, Human Genetics, Journal of Neuroscience, Nature, Nature Genetics, Nature Neuroscience, Neurology, Neuron, and Science


 

original publications from a list of over 160


 

  1. Khuri, R., H. Y. El-Hibri, I. Sahli, and F. Mudawwar. 1982. Hyper IGE Syndrome: A report of two cases. Leb. Med. J. 32:49-52.

  2. Irani, D., H. S. Kim, H. Y. El-Hibri, R. V. Dutton, A.L. Beaudet, and D. Armstrong. 1983. Postmortem observations on -glucuronidase deficiency presenting as hydrops fetalis. Ann. Neurol. 14:486-490.

  3. Percy, A. K., H. Y. Zoghbi, and V. M. Riccardi. 1985. Rett syndrome: Initial experience with an emerging clinical entity. Brain Dev. 7:300-304.

  4. Zoghbi, H. Y., S. Okumura, J. P. Laurent, and M. A. Fishman. 1985. Acute effect of glycerol on net cerebrospinal fluid production in dogs. J. Neurosurg. 63:759-762.

  5. Zoghbi, H. Y., A. K. Percy, D. G. Glaze, I. J. Butler, and V. M. Riccardi. 1985. Reduction of biogenic amine levels in the Rett syndrome. N. Engl. J. Med. 313:921-924.

  6. Zoghbi, H. Y., J. E. Spence, A. L . Beaudet, W. E. O'Brien, C. J. Goodman, and K. M. Gibson. 1986. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Ann. Neurol. 20:367- 369.

  7. Glaze, D. G., J. D. Frost, H. Y. Zoghbi, and A. K. Percy. 1987. Rett syndrome: Characterization of sleep and respiratory patterns. Ann. Neurol. 21:377-382.

  8. Glaze, D. G., J. D. Frost, H. Y. Zoghbi, and A. K. Percy. 1987. Rett syndrome: Correlation of electroencephalographic characteristics with clinical staging. Arch. Neurol. 44:1053-1056.

  9. Percy, A. K., H. Y. Zoghbi, and D. G. Glaze. 1987. Rett syndrome: Discrimination of typical and variant forms. Brain Dev. 9:458-461.

  10. Zoghbi, H. Y., S. P. Daiger, A. McCall, W. E. O’Brien, and A. L. Beaudet. 1988. Extensive DNA polymorphism at the factor XIIIa (F13a) locus and linkage to HLA. Am. J. Hum. Genet. 42:877-883.

  11. Ledley, F. D., M. Lumetta, H. Y. Zoghbi, P. van Tuinen, S. Ledbetter, and D. H. Ledbetter. 1988. Mapping of human methylmalonyl CoA mutase (Mut) locus on chromosome 6. Am. J. Hum. Genet. 42:839-846.

  12. Ballantyne, C. M., H. Y. Zoghbi, K. H. Grzeschick, W. E. O’Brien, and A. L. Beaudet. 1988. A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. Nucleic Acids Res. 16:1650.

  13. Zoghbi, H. Y., M. S. Pollack, L. A. Lyons, R. E. Farrell, S. P. Daiger, and A. L. Beaudet. 1988. Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23:580-584.

  14. Jellinger, K., D. Armstrong, H. Y. Zoghbi, and A. K. Percy. 1988. Neuropathology of Rett syndrome. Acta Neuropathol. 76:142-158.

  15. Zoghbi, H. Y., W. E. O’Brien, and F. D. Ledley. 1988. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics 3:396-398.

  16. Percy, A. K., H. Y. Zoghbi, K. R. Lewis, and J. Jankovic. 1988. Rett syndrome: Qualitative and quantitative differentiation from autism. Child Neurol. 3 [Suppl]:S65-67.

  17. Zoghbi, H. Y., S. Milstein, I. J. Butler, E. O. Smith, S. Kaufman, D. G. Glaze, and A. K. Percy. 1989. Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann. Neurol. 25:56-60.

  18. Zoghbi, H. Y., L. A. Sandkuijl, J. Ott, S. P. Daiger, M. Pollack, W. E. O’Brien, and A. L. Beaudet. 1989. Assignment of autosomal dominant spinocerebellar ataxia centromeric to the HLA region on the short arm of chromosome 6 using multilocus linkage analysis. Am. J. Hum. Genet. 44:255-263.

  19. Bibbins, K., J-Y. Tsai, J. Schimenti, N. Sarvetnick, H. Y. Zoghbi, P. Goodfellow, and L. M. Silver. 1989. Human homologues of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics 5:139-143.

  20. Zoghbi, H. Y., D. H. Ledbetter, R. Schultz, A. K. Percy, and D. G. Glaze. 1990. A de novo X; 3 translocation in Rett syndrome. Am. J. Med. Genet. 35:148-151.

  21. Zoghbi, H. Y., C. M. Ballantyne, W. E. O’Brien, A. E. McCall, T. J. Kwiatkowski Jr., S. A. Ledbetter, and A. L. Beaudet. 1990. Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics 6:352-357.

  22. Zoghbi, H. Y., A. K. Percy, R. Schultz, and C. Fill. 1990. Patterns of X chromosome inactivation in Rett syndrome. Brain Dev. 12:131-135.

  23. Zoghbi, H. Y. and A. E. McCall. 1990. TaqI polymorphism at the D6S91 locus. Nucleic Acids Res. 18:5923.

  24. Zoghbi, H. Y. and A. E. McCall. 1990. BclI and MspI polymorphisms at the D6S90 locus. Nucleic Acids Res. 18:5922.

  25. Kwiatkowski Jr., T.J., H. Y. Zoghbi, S. A. Ledbetter, K. A. Ellison, and C. Chinault. 1990. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucleic Acids Res. 18:7191.

  26. Zoghbi, H. Y. , A. E. McCall, and F. Le Borgne-Demarquoy. 1991. Sixty five radiation hybrids for the short arm of human chromosome 6p: Their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR. Genomics 9:713-720.

  27. Blanche, H., H. Y. Zoghbi, E. W. Jabs, B. De Gouyon, R. Zunec, R. L. White, J. Dausset, and H. M. Cann. 1991. A centromere-based genetic map of the short arm of human chromosome 6. Genomics 9:420-428.

  28. Weber, J. L., A. E. Kwitek, P. E. May, and H. Y. Zoghbi. 1991. Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res. 19:968.

  29. Ranum, L. P. W., M-Y. Chung, L. A. Duvick, H. Y. Zoghbi, and H. T. Orr. 1991. Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res. 19:1171.

  30. Eng, C. M., C. A. Kozak, A. L. Beaudet, and H. Y. Zoghbi. 1991. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 9:278-282.

  31. Zoghbi, H. Y., C. Jodice, L. A. Sandkuijl, T. J. Kwiatkowski Jr., A. E. McCall, S. A. Huntoon, P. Lulli, M. Spadaro, M. Litt, H. M. Cann, M. Frontali, and L. Terrenato. 1991. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am.J. Hum. Genet. 49:23-30.

  32. Kwiatkowski Jr., T. J., A. L. Beaudet, B. J. Trask, and H. Y. Zoghbi. 1991. Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: Analysis of dinucleotide polymorphisms on native gels. Genomics 10:921-926.

  33. Lupski, J. R., C. A. Garcia, H. Y. Zoghbi, E. P. Hoffman, and F. G. Fenwick. 1991. Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am. J. Med. Genet. 40:354-364.

  34. Huang, T. H. M., J. F. Hejtmancik, A. Edwards, A. L. Pettigrew, C. A. Herrera, H. A. Hammond, C. T. Caskey, H. Y. Zoghbi, and D. H. Ledbetter. 1991. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human HPRT locus (Xq26). Am. J. Hum. Genet. 49: 1312-1319.

  35. Keats, B. J. B., M. S. Pollack, A. McCall, M. A. Wilensky, L. J. Ward, M. Lu, and H. Y. Zoghbi. 1991. Localization of the gene for spinocerebellar ataxia to the short arm of chromosome 6 in a kindred for which close linkage to HLA is excluded. Am. J. Hum. Genet. 49:972-977.

  36. Ellison, K. A., C. P. Fill, and H. Y. Zoghbi. 1991. MspI and MboI polymorphisms at the DXS704 locus. Nucleic Acids Res. 19:5101.

  37. Le Borgne-Demarquoy, F., T. J. Kwiatkowski Jr., and H. Y. Zoghbi. 1991. Two dinucleotide repeat polymorphisms at the D6S202 locus. Nucleic Acids Res. 19:6060.

  38. Zoghbi, H. Y., M. Frontali, H. T. Orr, L. A. Sandkuijl, H. Cann, H. Sasaki, S. Chamberlain, L. Terrenato, and S. S. Rich. 1992. Linkage studies in dominantly inherited spinocerebellar ataxia. Adv. Neurol. 61:133-137.

  39. Ellison, K. A., C. P. Fill, J. Terwilliger, L. J. Degennaro, A. Martin-Gallardo, M. Anvret, A. K. Percy, J. Ott, and H. Y. Zoghbi. 1992. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. Am. J. Hum. Genet. 50:278-287.

  40. Meese, E. U., C. M. Witkowski, H. Y. Zoghbi, E. J. Stanbridge, and J. M. Trent. 1992. Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6. Genomics 12:542-548.

  41. Cutting, G. R., S. Curristin, H. Y. Zoghbi, B. O'Hara, M. Seldin, and G. R. Uhl. 1992. Identification of a putative aminobutyric acid (GABA) receptor rho2 cDNA and colocalization of the genes encoding rho2 and rho1 to the q14-21 region of human chromosome 6. Genomics 12:801-806.

  42. Banfi, S., A. Ledbetter, A. C. Chinault, and H. Y. Zoghbi. 1992. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. Nucleic Acids Res. 20:1814.

  43. Huang, T. H. M., R. Cottingham, D. H. Ledbetter, and H. Y. Zoghbi. 1992. Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454 and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics 13:375-380.

  44. Eng, C. M., B. A. Durtschi, H. Y. Zoghbi, and A. L. Beaudet. 1992. Isolation, mapping and characterization of two cDNA clones expressed in the cerebellum. Genomics 14:813-815.

  45. Chen, M., S. K. Mishra, H. Y. Zoghbi, R. W. Cottingham, H. T. Orr, H. M. Cann, and H. Donis-Keller. 1992. A comprehensive genetic linkage map of human genome Chromosome 6. Science 258:70-71.

  46. Allen, R. C., H. Y. Zoghbi, A. B. Moseley, H. M. Rosenblatt, and BJ. W. Belmont. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51:1229-1239.

  47. Worley, K. C., K. A. Ellison, Y. H. Zhang, D. F. Wang, J. Mason, E. J. Roth, V. Adams, D. D. Fogt, X. M. Zhu, J. A. Towbin, A. C. Chinault, H. Y. Zoghbi, and E. R. B. McCabe. 1993. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 16:407-416.

  48. Ellison, K. A., E. J. Roth, E. R. B. McCabe, A. C. Chinault, and H. Y. Zoghbi. 1993. Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am. J. Med. Genet. 47:1124-1134.

  49. Schaefer, L., G. B. Ferrero, A. Grillo, M. T. Bassi, E. J. Roth, M. C. Wapenaar, G. J. van Ommen, T. K. Mohandas, M. Rocchi, H. Y. Zoghbi, and A. Ballabio. 1993. A high resolution deletion map of human Xp22 region. Nature Genet. 4:272-279.

  50. Wapenaar, M. C., M. T. Bassi, L. Schaefer, A. Grillo, G. B. Ferrero, A. C. Chinault, A. Ballabio, and H. Y. Zoghbi. 1993. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions. Hum. Mol. Genet. 2:947-952.

  51. Kwiatkowski Jr., T. J., H. T. Orr, S. Banfi, A. E. McCall, C. Jodice, F. Persichetti, A. Novelletto, F. Le Borgne-Demarquoy, L. A. Duvick, M. Frontali, S. H. Subramony, A. L. Beaudet, L. Terrenato, H. Y. Zoghbi, and L. P. W. Ranum. 1993. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am. J. Hum. Genet. 53:391-400.

  52. Orr, H., M-Y. Chung, S. Banfi, T. J. Kwiatkowski Jr., A. Servadio, A. L. Beaudet, A. E. McCall, L. A. Duvick, L. P. W. Ranum, and H. Y. Zoghbi. 1993. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 4:221-226.

  53. Chung, M-Y., L. P. W. Ranum, L. A. Duvick, A. Servadio, H. Y. Zoghbi, and H. T. Orr. 1993. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5:254-258.

  54. Banfi, S., M-Y. Chung, T. J. Kwiatkowski Jr., L. P. W. Ranum, A. E. McCall, A. C. Chinault, H. T. Orr, and H. Y. Zoghbi. 1993. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics 8:627-635.

  55. Friedmann, M., L. T. Holth, H. Y. Zoghbi, and R. Reeves. 1993. Organization, inducible expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. Nucleic Acids Res. 21:4259-4267.

  56. Chong, S. S., K. Kristjansson, H. Y. Zoghbi, and M. R. Hughes. 1993. Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics 18:355-359.

  57. Durkin, A. S., D. R. Maglott, N. C. Vamvakoppulos, H. Y. Zoghbi, and W. C. Nierman. 1993. Assignment of an intron-containing human heat-shock protein gene (hsp90, HSPCB) to chromosome 6 near TCTE1 (6p21) and two intronless pseudogenes to chromosomes 4 and 15 by polymerase chain reaction amplification from a panel of hybrid cell lines. Genomics 18:452-454.

  58. Durkin, A. S., W. C. Nierman, H. Y. Zoghbi, C. Jones, C. A. Kozak, and D. R. Maglott. 1994. Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently-labeled PCR products from hybrid cell panels. Cytogenet. Cell Genet. 65:86-91.

  59. Lindsay, E. A., A. Grillo, G. B. Ferrero, E. J. Roth, E. Magenis, M. Grompe, M. Hulten, C. Gould, A. Baldini, H. Y. Zoghbi, and A. Ballabio. 1994. The microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic and molecular characterization. Am. J. Med. Genet. 49:229-234.

  60. Percy, A. K., D. G. Glaze, R. J. Schultz, H. Y. Zoghbi, D. Williamson, J. D. Frost Jr., J. J. Jankovic, D. del Junco, M. Skender, S. Waring, and E. C. Myer. 1993. Rett Syndrome: Controlled study of an oral opiate antagonist, naltrexone. Ann. Neurol. 35:464-470.

  61. van Slegtenhorst, M. A., M. T. Bassi, G. Borsani, M. C. Wapenaar, G. B. Ferrero, L. de Conciliis, E. Rugarli, A. Grillo, B. Franco, H. Y. Zoghbi, and A. Ballabio. 1994. A gene from the human Xp22.3 region shares homology with voltage-gated chloride channels. Hum. Mol. Genet. 3:547-552.

  62. Wapenaar, M. C., M. V. Schiaffino, M. T. Bassi, L. Schaefer, A. C. Chinault, H. Y. Zoghbi, and A. Ballabio. 1994. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids spanning the OA1 and MLS loci in Xp22. Hum. Mol. Genet. 3:1155-1161.

  63. Ranum, L. P. W., M-Y. Chung, S. Banfi, A. Bryer, L. J. Schut, R. Ramesar, L. A. Duvick, A. E. McCall, S. H. Subramony, L. Goldfarb, C. Gomez, L. A. Sandkuijl, H. T. Orr, and H. Y. Zoghbi. 1994. Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): Evidence for familial effects on the age of onset. Am. J. Hum. Genet. 55: 244-252.

  64. Banfi, S., A. Servadio, M-Y. Chung , T. J. Kwiatkowski Jr., A. E. McCall, L. A. Duvick, Y. Shen, E. J. Roth, H. T. Orr, and H. Y. Zoghbi. 1994. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 7:513-520.

  65. Kish SJ, el_Awar M, Stuss D, Nobrega J, Currier R, Aita JF, Schut L, Zoghbi HY, Freedman M. 1994. Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity. Neurology 44:9 1738-46.

  66. Bond, J. S., K. Rojas, J. Overhauser, H. Y. Zoghbi, and W. Jiang. 1995. The structural genes, MEP1A and MEP1B, for the and ß subunits of the metalloendopeptidase meprin map to human chromosome 6p and 18q, respectively. Genomics 25:300-303.

  67. Servadio, A., B. Koshy, D. Armstrong, B. Antalffy, H. T. Orr, and H. Y. Zoghbi. 1995. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet. 10:94-98.

  68. Chong, S. S., A. E. McCall, J. Cota, S. H. Subramony, H. T. Orr, M. R. Hughes, and H. Y. Zoghbi. 1995. Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10:344-350.

  69. Matilla, T., A. McCall, S. H. Subramony, and H. Y. Zoghbi. 1995. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann. Neurol. 38:68-72.

  70. Gouw, L. G., C. D. Kaplan, J. H. Haines, K. B. Digre, L. S. Rutledge, A. Matilla, M. Leppert, H. Y. Zoghbi, and L. J. Ptacek. 1995. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 10:89-93.

  71. Burright, E. N., H. B. Clark, A. Servadio, T. Matilla, R. M. Feddersen, W. S. Yunis, L. A. Duvick, H. Y. Zoghbi, and H. T. Orr. 1995. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82:937-948.

  72. Servadio, A., A. McCall, H. Y. Zoghbi, and E. M. Eicher. 1995. Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. Genomics 29:812-813.

  73. Ferrero, G. B., B. Franco, E. J. Roth, B. A. Firullli, G. Borsani, J. Delmas-Mata, J. Weissenbach, G. Halley, D. Schlessinger, A. C. Chinault, H. Y. Zoghbi, D. L. Nelson, and A. Ballabio. 1995. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum. Mol. Genet. 4:1821-1827.

  74. Banfi, S., A. Servadio, M-Y. Chung, F. Capozzoli, L. A. Duvick, R. Elde, H. Y. Zoghbi, and H. T. Orr. 1996. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum. Mol. Genet. 5:33-40.

  75. Schaefer, L., A. Ballabio, and H. Y. Zoghbi. 1996. Cloning and characterization of a putative human holocytochrome c-type synthetase gene isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics, 34:166-172.

  76. Koshy, B., T. Matilla, E. N. Burright, D. E. Merry, K. H. Fischbeck, H. T. Orr, and H. Y. Zoghbi. 1996. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase Hum. Mol. Genet. 5:1311-1318.

  77. Ben-Arie, N., A. McCall, S. Berkman, G. Eichele, H. J. Bellen, and H. Y. Zoghbi. 1996. Evolutionary conservation of sequence and expression of the bHLH protein atonal suggests a conserved role in neurogenesis. Hum. Mol. Genet. 5:1207-1216.

  78. Zhuchenko, O., J. Bailey, P. Bonnen, T. Ashizawa, D. W. Stockton, C. Amos, W. B. Dobyns, S. H. Subramony, H. Y. Zoghbi, and C. C. Lee. 1997. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansion in the1A - voltage-dependent calcium channel. Nature Genet. 15:62-69.

  79. Burright, E. N., J. D. Davidson, L. A. Duvick, B. Koshy, H. Y. Zoghbi, and H. T. Orr. 1997. Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum. Mol. Genet. 6:(4)513-518.

  80. Lorenzetti, D., S. Bohlega, and H. Y. Zoghbi. 1997. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 49: 1009-1013.

  81. Schanen, N. C., E. J. R. Dahle, F. Capozzoli, V. A. Holm, H. Y. Zoghbi, and U. Francke. 1997. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am. J. Hum. Genet. 61:634-641.

  82. Skinner, P., B. Koshy, C. J. Cummings, I. A. Klement, K. Helin, A. Servadio, H. Y. Zoghbi, and H. T. Orr. 1997. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389:971-974.

  83. Matilla, T., B. Koshy, C. J. Cummings, T. Isobe, H. T. Orr and H. Y. Zoghbi. 1997. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 389:974-978.

  84. Kaytor, M. D., E. N. Burright, L. A. Duvick, H. Y. Zoghbi and H. T. Orr. 1997. Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genetics 6:2135-2139.

  85. Clark, H. B., E. N. Burright, W. S. Yunis, S. Larson, C. Wilcox, B. Hartman, A. Matilla, H. Y. Zoghbi, and H. T. Orr. 1997. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behavior followed by a progressive cerebellar dysfunction and histological alterations. J. Neurosci. 17: 7385-7395.

  86. Ben-Arie N., H. J. Bellen, D. L. Armstrong, A. E. McCall, P. R. Gordadze, Q. Guo, M. M. Matzuk, and H. Y. Zoghbi. 1997. Math1 is essential for genesis of cerebellar granule neurons. Nature 390: 169-172.

  87. Schaefer, L., S. Prakash, and H. Y. Zoghbi. 1997. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics 46:268-277.

  88. Pearson, C. E., E. E. Eichler, D. Lorenzetti, S. F. Kramer, H. Y. Zoghbi, D. L. Nelson, and R. R. Sinden. 1998. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA formation. J. Biochem. 37:2701-2708.

  89. Cummings, C. J., M. A. Mancini, B. Antalffy, D. B. DeFranco, H.T. Orr, H. Zoghbi. 1998. Chaperone suppression of ataxin-1 aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nature Genetics 19:148-154.

  90. Narayanan, V., S. Olinsky, E. Dahle, S. Naidu, and H. Y. Zoghbi. 1998. Mutation analysis of the M6b gene in patients with Rett syndrome. American Journal of Medical Genetics 78:165-168.

  91. Cummings, C. J., E. J. R. Dahle, and H. Y. Zoghbi. 1998. Analysis of the genomic structure of the human glycine receptor 2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. American Journal of Medical Genetics 78:176-178.

  92. Van den Veyver, I. B., S. Subramanian, and H. Y. Zoghbi. 1998. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. American Journal of Medical Genetics 78:179-181.

  93. Matilla, A., E. D. Roberson, S. Banfi, J. Morales, D. L. Armstrong, E. N. Burright, H. T. Orr, J. D. Sweatt, H. Y. Zoghbi, and M. M. Matzuk. 1998. Mice lacking ataxin-1 do not have ataxia but display neurobehavioral abnormalities and decreased hippocampal PPF. The Journal of Neuroscience. 17:5508-5516.

  94. Van den Veyver, I. B., T. A. Cormier, V. Jurecic, A. Baldini, and H. Y. Zoghbi. 1998. Characterization and physical mapping in human and mouse of a novel ring finger gene in Xp22. Genomics 51:251-261.

  95. Klement, I. A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y., and Orr, H.T. 1998. Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic Mice. Cell 95:41-53.

  96. Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Dürr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., and Tsuji, S. 1998. Close associations between prevalence of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and caucasian populations. American Journal of Human Genetics. 63:1060-1066.

  97. Benton, C.S., de Silva, R., Rutledge, S.L., Bohlega, S., Ashizawa, T., and Zoghbi, H.Y. 1998. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081-1086.

  98. Matsuura, T., M. Achari, M. Khajavi, L. Bachinski, H.Y. Zoghbi, and T. Ashizawa. 1999. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Annals of Neurology 45:407-411.

  99. Bermingham N, Hassan BA, Price SD, Vollrath MA, Ben-Arie N, Eatock RA, Bellen HJ, Lysakowski A, and Zoghbi HY. 1999. Math1, an essential gene for the generation of inner ear hair cells. Science 284:1837-1841.

  100. Prakash, S.D., Van den Veyver, I.G., Franco, B., Volta, M., Ballabio, A., and Zoghbi, H.Y. 1999. Characterization of a novel chromo domain gene in Xp22.3 with homology to Drosophila msl-1. Genomics 59(1):77-84.

  101. Amir, R., Van den Veyver, I. B., Wan, M., Tran, C., Francke, U. and Zoghbi, H.Y. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23:185-188.

  102. Cummings, C.J., Reinstein, E., Sun, Y., Antalffy, B., Jiang, Y-h., Ciechanover, A., Orr, H.T., Beaudet, A.L., and Zoghbi, H.Y. 1999. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 transgenic mice. Neuron 24: 879-892.

  103. Wan, M., Lee, S S.J.L., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J.L.L., Lo, I.F.M., Zoghbi, H.Y., Schanen, N.C., and Francke, U. 1999. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. American Journal of Human Genetics 65:1520-1529.

  104. Amir, R. Roth-Dahle, E.J., and Zoghbi, H.Y. 2000. Candidate gene analysis in Rett syndrome and the identification of twenty-one SNPs in Xq. American Journal of Medical Genetics 90:69-71.

  105. Lin, X., Antalffy, B., Kang, D., Orr, H.T., and Zoghbi, H.Y. 2000. Polyglutamine expansion downregulates specific neuronal genes before pathologic changes in SCA1. Nature Neuroscience 3:157-163.

  106. Ben-Arie, N., Hassan, B.A., Bermingham, N.A., Armstrong, D., Matzuk, M.M., Bellen, H.J. and H. Y. Zoghbi. 2000. Functional conservation of atonal and Math 1 in the CNS and PNS. Development 127:1039-1048.

  107. Cox, P. and Zoghbi, H. Y. 2000. Sequencing, expression analysis, and mapping of three unique human tropomodulins genes and their mouse orthologs. Genomics 63:97-107.

  108. Prakash, S., Paylor, R., Jenna, S., Lamarche-Vane, N., Armstrong, D., Xu, B., Mancini, M. and Zoghbi, H.Y. 2000. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Human Molecular Genetics 9:477-488

  109. Helms, A.W., Abney, A.L., Ben-Arie, N., Zoghbi, H.Y., Johnson, J.E. 2000. Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. Development 127:1185-1196.

  110. Lorenzetti, D., Watase, K., Xu, B., Antalffy, B., Matzuk, M., Guo, Q., Wang, P., Orr, H., and Zoghbi, H. 2000. Generation and analysis of mice with a targeted expanded CAG repeat in the Sca1 locus. Human Molecular Genetics 9:779-785.

  111. Zhang, W., Amir, R., Stockton, D., Van den Veyver, I., Bacino, C., and Zoghbi, H. 2000. Terminal osseous dysplasia and pigmentary defects maps to human chromosome Xq27.3-Xqter. The American Journal of Human Genetics 66:1461-1464.

  112. Amir, R.E., Van den Veyver, I.B., Schultz, R., Malicki, D.M., Tran, C. Q., Dahle, E. J., Philippi, A., Timar, L., Percy, A.K., Motil, K.J., Lichtarge, O., Smith, E.O., Glaze, D.G., and Zoghbi, H.Y. 2000. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Annals of Neurology 47:670-9.

  113. Hassan, B.A., Bermingham, N.A., He, Y., Sun, Y., Jan, Y-N., Zoghbi, H.Y., and Bellen, H.J. 2000. atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain. Neuron 25:549-61.

  114. Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal., R.P., Watase, K., Khajavi, M., McCall, A.E., Davis, C.F., Zu, L., Achari, M, Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. 2000. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nature Genetics 26:191-194.

  115. Fernandez-Funez, P, Rosales, MLN, de Gouyon, B, She, W-C, Luchack, J, Turiegano, E, Benito, J, Capovilla, M, Skinner, PJ, McCall, A, Canal, I, Orr, HT, Zoghbi, HY, and Botas, J. 2000. Identification of genes that modify ataxin-1 induced neurodegeneration. Nature 408:101 - 106.

  116. Davidson, J. D., Riley, B., Burright, E. N., Duvick, L. A., Zoghbi, H. Y. and Orr, H. T. 2000. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Human Molecular Genetics 9:2305-12.

  117. Yue S, Serra HG, Zoghbi HY, Orr HT. 2001. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Human Molecular Genetics 10:25-30.

  118. Shi O, Morris SM Jr, Zoghbi H, Porter CW, O'Brien WE. 2001. Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Molecular and Cellular Biology 21:811-813.

  119. Inoue T, Lin X, Kohlmeier KA, Orr HT, Zoghbi HY, Ross WN. 2001. Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in sca1 transgenic mice. Journal of Neurophysiology 85:1750-60.

  120. Buyse, I. M., Fang, P., Hoon, K. T., Amir, R.. E., Zoghbi, H. Y., and Roa, B. B. 2000. Diagnostic Testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms. American Journal of Human Genetics 67:1428-1436.

  121. Bermingham, NA, Hassan, B, Fernandez, M, Banfi, S, Bellen, H, Fritzsch, B, and Zoghbi, HY. 2001. Development of the Proprioceptor Pathway is MATH1-Dependent. Neuron. 30:411-22.

  122. Cummings, C. J., Sun, Y., Opal, P., Antalffy, B., Mestril, R., Orr, H.T., Dillmann, W.H., Zoghbi, H.Y. 2001. Over-expression of inducible HSP70 Chaperone suppresses neuropathology and improves motor function in SCA1 mice. Human Molecular Genetics 10:1511-1518.

  123. Skinner, P.J., Vierra-Green, C.A., Brent Clark, H., Zoghbi, H.Y., and Orr, H.T. 2001. Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice. American Journal of Pathology, 159:905-913.

  124. Piedras-Renteria ES, Watase K, Harata N, Zhuchenko O, Zoghbi HY, Lee CC, Tsien RW. 2001. Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6. J Neurosci 21:9185-93.

  125. Yang, Q., Bermingham, N., Finegold, M., and Zoghbi, H. 2001. Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science 294:2155-2158.

  126. Shahbazian MD, Antalffy B, Armstrong DL, and Zoghbi HY. 2001. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Human Molecular Genetics 11:115-24.

  127. Shahbazian, M.D., Orr, H.T., and Zoghbi, H.Y. 2001. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiology of Disease. 8:974-81.

  128. Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB. 2001. Analysis of Mid1, Hccs, Arhgap6, and Ms1311 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mammalian Genome 12:796-798.

  129. Gu Y, McIlwain KL, Weeber EJ, Yamagata T, Xu B, Antalffy BA, Reye C, Yuva-Paylor L, Armstrong D, Zoghbi HY, Sweatt, JD, Paylor R, and Nelson, DL. 2002. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knockout mice. J. Neuroscience 22:2753-2763.

  130. Matsuura T, Ranum LP, Volpini V, Pandolfo M, Sasaki H, Tashiro K, Watase K, Zoghbi HY, Ashizawa T. 2002. Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 58(6):983.

  131. Chen P, Johnson JE, Zoghbi HY, Segil N. 2002. The role of Math1 in inner ear development: uncoupling the establishment of the sensory primordium from hair cell fate determination. Development. 129:2495-2505.

  132. Watase K, Weeber EJ, Xu B, Antalffy B, Nellis A, Yuva-Paylor L, Armstrong D, Sweatt JD, Orr HT, Paylor RL and Zoghbi HY. 2002. A long CAG repeat in the mouse Sca1 locus replicates human SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron 34:905-19.

  133. Lin, X, Jung J, Kang D, Xu B, Zaret KS, Zoghbi HY. 2002. Prenylcysteine carboxylmethyltransferase (PCCMT) is essential for the earliest stages of liver development in mice. Gastroenterology. 123:345-51.

  134. Shahbazian MD, Young JI, Yuva-Paylor LA, Antalffy BA, Spencer CM, Noebels JL, Armstrong DL, Paylor R, Zoghbi HY. 2002. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35:243.

  135. Shahbazian MD, Sun Y, and Zoghbi HY. 2002. Balanced X chromosome inactivation patterns in the Rett syndrome brain. American Journal of Medical Genetics 111:164-8.

  136. Wang, VY, Hassan, BA, Bellen, HJ, and Zoghbi, HY 2002. Drosophila atonal fully rescues the phenotype of Math1 null mice. New functions evolve in new cellular contexts. Curr Biol. 12:1611.

  137. Jensen, P, Zoghbi, HY, and Goldowitz, D. 2002. Dissection of the cellular and molecular events that position cerebellar Purkinje cells: A study of the math1 null-mutant mouse. J. Neuroscience 22:8110-8116.

  138. Prakash, SK, Cormier, TA, McCall, AE, Garcia, JJ, Sierra, R, Haupt, B, Zoghbi, HY, and Van den Veyver, IB. 2002. Loss of holocytochrome c -type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Human Molecular Genetics 11:3237–3248.

  139. Wallis D, Hamblen M, Zhou Y, Venken KJT, Schumacher A, Grimes HL, Zoghbi HY, Orkin SH, and Bellen HJ. 2003. The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival (Article, English). Development 130:221-232.

  140. Yoo,S-Y, Pennesi ME, Weeber EJWeeber, Xu B, Atkinson R, Chen S, Wu SM, Sweatt JD, and Zoghbi HY. 2003. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of ataxin-7 neurons and abnormalities in short-term plasticity. Neuron 37:383-401.

  141. Chen H-K, Fernandez-Funez P, Acevedo SF, Lam YC, Kaytor MD, Fernandez MH, Aitken A, Skoulakis EMC, Orr HT, Botas J, and Zoghbi HY. 2003. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell 113:1-12.

  142. Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, Clark HB, Orr HT. 2003. Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice. Neuron 38:375-87.

  143. Cox P, Fowler V, Xu B, Sweatt JD, Paylor R, Zoghbi HY. 2003. Mice lacking tropomodulin-2 (Tmod2) show enhanced long-term potentiation, hyperactivity and deficits in learning and memory. Cellular and Molecular Neuroscience 23:1-12.

  144. Opal P, Garcia J, Propst F, Matilla A, Orr HT and Zoghbi HY. 2003. Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule associated protein 1B and modulates neuritogenesis. J Biol Chem 278:34691-9.

  145. Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, and Meehan RR. 2003. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by Notch in Xenopus embryos. Molecular Cell 12:425-435.

  146. Fritz-Six KL, Cox PR, Fischer RS, Xu B, Gregorio CC, Zoghbi HY, and Fowler VM. 2003. Aberrant myofibril assembly in tropomodulin 1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol 163:1033-44.

  147. Watase, K, Venken KJT, Sun Y, Orr HT, and Zoghbi HY. 2003 Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Human Molecular Genetics 12:2789-95.

  148. Young, J and Zoghbi, HY. 2004. X-Chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome. Am. J. Hum. Genet. 74:511–520.

  149. Opal, P, Garcia, JJ, McCall, E, Xu, B, Weeber, EJ, Sweatt, JD, Orr, HT, and Zoghbi, HY. 2004. Generation and characterization of LANP/pp32 null mice. Molecular & Cellular Biology. 24:3140-3149.

  150. Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. 2004. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet 74:1216-24.

  151. Riley BE, Xu Y, Zoghbi HY, Orr HT. 2004. The Effects of the Polyglutamine Repeat Protein Ataxin-1 on the UbL-UBA Protein A1Up. J Biol Chem. 279:42290-42301.

  152. Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY and Orr HT. 2004. Gene Profiling Links SCA1 Pathophysiology to Glutamate Signaling in Purkinje Cells of Transgenic Mice. Hum Mol Genet. 13:2535-43.

  153. Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, and Orr HT. 2004. Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice. J of Neurosicence 24:8853-8861.

  154. Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, Sweatt JD and Zoghbi HY. 2004. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Human Molecular Genetics 13:2679-89.

  155. Moretti P, Bouwknecht A, Teague R, Paylor R, and Zoghbi HY. 2004. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Human Molecular Genetics 14:205-220.

  156. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, and Van den Veyver IB. 2005. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 42:el5.

  157. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, ……. Zoghbi H, ………… and Bentley DR. 2005. The DNA sequence of the human X chromosome. Nature 434:325-37

  158. Chen D-H, Cimino PJ, Ranum LPW, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, and Bird TD. 2005. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 64:1258-60.

  159. Riley BE, Zoghbi HY, and Orr HT. 2005. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem 280:21942-48.

  160. Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen H-K, Rose, MF, Venken KJT, Botas J, Orr HT, Bellen HJ, and Zoghbi HY. 2005. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell 122:633-44.

  161. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Links Towards a proteome-scale map of the human protein-protein interaction network. Nature 437:1173-8.

  162. Wang VY, Rose MF, and Zoghbi HY. 2005. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 48:31-43.

  163. Shroyer NF, Schultz DW, Venken, KJT, Bellen, HJ, and Huda Y. Zoghbi. 2005. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes and Development. 19:2412-7.

  164. Young JI, Hong EP, Castle J, Crespo-Barreto J, Bowman, AB, Rose MF, Kang D, Richman R, Johnson J, Berget S, and Zoghbi H. 2005. Regulation of RNA splicing by the methylation-dependent transcriptional repressor MeCP2. PNAS 102:17551-17558.

  165. Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, Antalffy B, Armstrong D, Arancio O, Sweatt JD, and Zoghbi, HY. 2006. Learning and Memory and Synaptic Plasticity are Impaired in a Mouse Model of Rett Syndrome. J Neuroscience. 26:319-327.

  166. Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmuller A,

Picaud S, Zoghbi HY, Trottier Y, Tora L, and Devys D. 2006. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol 4:e67.

167. Lim J, Hao T, Shaw C, Patel A, Szabó G, Rual J-F, Fisk CJ, Li N, Smolyar A, Hill D, Barabási A-L, Vidal M, and Zoghbi HY. 2006. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell, 125:801-14.

168. Moretti P and Zoghbi HY. 2006. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev, 16:276-81.

169. Al-Ramahi I, Lam YC, Chen H-K, de Gouyon B, Zhang M, Pérez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, and Botas J. 2006. CHIP Protects from the Neurotoxicity of Expanded and Wild-type Ataxin-1 and Promotes Their Ubiquitination and Degradation. J Biol Chem, 281:26714-26724.

170. Del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. 2006. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 8:784-792.

171. Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, Lysholm A, Burright E, Zoghbi HY, Clark HB, Andresen JM, and Orr HT. 2006. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell 127:697-708.

172. McGill B, Bundle SF, Yaylaoglu, MB, Carson JP, Thaller C, and Zoghbi HY. 2006. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. PNAS, 103:18267-72.

173. Lam YC, Bowman AB, Jafar-Nejad, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, and Zoghbi HY. 2006. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell, 127:1335-47.

174. Bowman, AB, Lam YC, Jafar-Nejad P, Chen H-K, Richman R, Samaco RC, Fryer JD, Kahle JJ, Orr HT, and Zoghbi HY. 2007. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nature Genetics, 39:373-9.

175. Watase K, Gatchel J, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr H, Zoghbi HY. 2007. Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model. PLoS Medicine, 4:836-847.

176. Shroyer NF, Helmrath MA, Wang VY, Antalffy B, Henning SJ, and Zoghbi HY. 2007. Intestine specific ablation of Mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology, 132:2478-88.

177. Cvetanovic M, Rooney RJ, Garcia JJ, Toporovskaya N, Zoghbi HY, and Opal P. 2007. The role of LANP and ataxin-1 in E4F-mediated transcriptional repression. EMBO Rep. 8:671-7.

178. Jorgensen ND, Andresen JM, Pitt JE, Swenson MA, Zoghbi HY, and Orr HT. 2007. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem, 102:2040-8.

179. Alvarez-Saavedra M, Saez MA, Kang D, Zoghbi HY, and Young JI. 2007. Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum Mol Genet 16:2315-25.

180. Flora A, Garcia JJ, Thaller C, and Zoghbi HY. 2007 The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci, 104:15382-7.

181. Chao H-C, Zoghbi HY, and Rosenmund C. 2007. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number . Neuron 56:58-65.

182. Al-Ramahi I, Pérez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. 2007. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS 3:e234.

183. Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, and Zoghbi HY. 2008. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci 105:1291-1296.


 

Submitted or in press

Neul JL, Barrish J, Lane J, Caeg E, Smith EO, Fang P, Zoghbi HY, Percy A, and Glaze DG. 2007. Specific mutations in Methyl-CpG-Binding Protein 2 confer different clinical severity in typical Rett syndrome. Neurology, in press.

Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, and Zoghbi HY. 2008. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature, in press.


 

invited Editorials


 

  1. Zoghbi HY. 1996. The expanding world of ataxins. Nature Genet 14:237-238.

  2. Heintz N and Zoghbi HY. 1997. -synuclein – a link between Parkinson and Alzheimer Diseases? Nature Genetics 16:325-327.

  3. Zoghbi HY 1997. CAG Repeats in SCA6: Anticipating New Clues. Neurology 49:1196-1199.

  4. Orr HT and Zoghbi HY 2000. Reversing Neurodegeneration: A Promise Unfolds. Cell, March 31, 101(1):1-4.

  5. Patterson MC and Zoghbi HY. 2003. Mental retardation: X marks the spot. Neurology 61:156-7.

  6. Zoghbi, H.Y. 2003. Postnatal neurodevelopmental disorders: Meeting at the synapse? Science 02:826-30.

  7. Zoghbi HY. 2003. BAC-to-BAC images of the brain. Nature 425:907-8.

  8. Zoghbi HY. 2005. SILencing misbehaving proteins. Nat Genet 37:1302-3.

  9. Fryer JD and Zoghbi HY. 2006. Huntingtin's critical cleavage. Nature Neuroscience 9:1088-89.



 

invited reviews and chapters


 

  1. Zoghbi, H. Y. 1988. Genetic aspects of Rett syndrome. J. Child Neurol. 3 [Suppl]:S76-78.

  2. Zoghbi, HY. 1991. Spinocerebellar degenerations. In Current Neurology, ed. Stanley H. Appel: Mosby - Year Book Inc., vol. 11, pp. 121-144.

  3. Zoghbi HY, and Chinault AC. 1993. Generation of YAC contigs by walking. In YAC Libraries: A User's Guide, eds. D. L. Nelson & B. H. Brownstein: W. H. Freeman & Co., New York, pp. 93-112.

  4. Zoghbi HY. 1993. Linkage studies in dominantly inherited ataxias. In Advances in Neurology; ed. A. E. Harding and T. Deufel: Raven Press. Ltd., New York, 133-137.

  5. Zoghbi HY. 1993. The spinocerebellar degenerations. In Current Neurology, ed. Stanley H. Appel: Mosby Year Book Inc., volume 13, pp. 87-110.

  6. Banfi S, and Zoghbi HY. 1994. Molecular genetics of hereditary ataxias. In Bailliere’s Clinical Neurology, eds. T. H. Brandt, et al.: Bailliere Tindall, London, volume 3, number 2, pp. 281-295.

  7. Ballabio A and Zoghbi HY. 1995. Spinocerebellar Ataxia Type 1. In The Metabolic and Molecular Bases of Inherited Disease, seventh edition, eds. C. R. Scriver, et al.: McGraw-Hill, New York, pp.4559-4570.

  8. Zoghbi HY. 1995. Spinocerebellar Ataxia Type 1. In Clinical Neuroscience, eds. R. N. Rosenberg, et al: Wiley-Liss, New York, volume 3, pp. 5-11.

  1. Zoghbi HY and Orr HT. 1995. Spinocerebellar Ataxia Type 1. In Seminars in Cell Biology, Volume 6, pp. 29-35.

  2. O’Donnell DM and H.Y. Zoghbi. 1995. Trinucleotide repeat disorders in pediatrics. Current Opinion in Pediatrics. 7:715-725.

  3. Zoghbi HY and Caskey C T. 1995. Inherited disorders caused by trinucleotide repeat expansions. In: Advances in Human Genetics Vol. 22, Harris, H. and Hirschhorn, K.H., eds. New York: Plenum Publishing Corporation.

  4. Banfi S and Zoghbi HY. 1996. Detection of chimerism in YAC clones. In: Yeast Artificial Chromosome Protocols, ed. D. Markie. Humana Press, Inc., Totowa, NJ.

  5. Zoghbi HY. 1996. Heritable Ataxias. In Principles of Child Neurology, McGraw-Hill, Inc., Ch. 69, pp. 1543-1561.

  6. Zoghbi HY. 1996. Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. In Transactions of the Association of American Physicians, ed. L. Goldman, volume 107, number 2, pp. 231-236.

  7. Ashizawa T and Zoghbi HY. 1997. Diseases inherited with trinucleotide repeat expansions. In: Current Neurology Volume 17, Appel, S.H., ed., IOS Press, Amsterdam, pp.79-135.

  8. J. R. Lupski, and H. Y. Zoghbi. 1997. Molecular genetics and neurologic disease: an introduction. In The Molecular and Genetic Bases of Neurological Disease, second edition, eds. R. N. Rosenberg et al.: Butterworth-Heinemann Publishers, Washington, D.C., pp. 3-22.

  9. Orr HT and Zoghbi HY. 1997. Unstable triplet repeats in neurological disease: Spinocerebellar ataxia type 1. In Progress in Alzheimer’s Disease and Similar Conditions, ed. L. L. Heston, American Psychiatric Press, Inc., Washington, D.C., Ch. 7, pp.117-127.

  10. Koshy B and Zoghbi HY. 1997. The CAG/Polyglutamine tract diseases: In Gene products and molecular pathogenesis. Brain Pathol. 7:927-942.

  11. Orr HT and Zoghbi HY. 1997. Toward Understanding polyglutamine-induced Neurological disease in spinocerebellar ataxia type 1. Cold Spring Harbor Laboratory Press Vol. 61:649-657.

  12. Zoghbi HY. 1997. Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatric Research 41(5): 722-726.

  13. Koshy B, Matilla A, and Zoghbi HY. 1998. Clues about the pathogenesis of SCA1 from biochemical and molecular studies of ataxin-1. In Genetic Instabilities and Hereditary Neurological Diseases, eds. R. D. Wells and S. T. Warren: Academic Press, San Diego, pp. 241-248.

  14. Orr HT and Zoghbi HY. 1998. Polyglutamine tract vs. protein context in SCA1 pathogenesis. In Trinucleotide Repeat Diseases, ed. D. C. Rubinsztein, M. R. Hayden: BIOS Scientific Publishers Limited pp. 105-118.

  15. Zoghbi HY, 1998. Spinocerebellar ataxia and other disorders of trinucleotide repeats. In Textbook Principles of Molecular Medicine, ed. L. Jameson: Blackwell Scientific Publishers, Cambridge, MA, pp. 913-920.

  16. Orr HT and Zoghbi HY. 1998. Transgenic mouse models of CAG trinucleotide repeat neurologic diseases. In Advances in Neurochemistry 9: 163-185.

  17. Klement IA, Zoghbi HY, and Orr HT 1999. Minireview: Pathogenesis of polyglutamine-induced disease: a model for SCA1. In Molecular Genetics and Metabolism 66: 172-178.

  18. Zoghbi HY and Orr HT 1999. Polyglutamine diseases: protein cleavage and aggregation. Current Opinion in Neurobiology, Oct; 9(5): 566-570.

  19. Cummings, C.J., Orr, H.T., and Zoghbi, H.Y. 1999. Progress in pathogenesis studies of spinocerebellar ataxia type 1. Phil. Trans. R. Soc. Lond. B 354:1079-1081.

  20. Lin X., Cummings CJ and Zoghbi HY. 1999. Expanding our understanding of polyglutamine diseases. Neuron 24(3): 499-502.

  21. Zoghbi HY and Swaiman K. 1999. Cerebellar dysfunction and ataxia in childhood. In: Pediatric Neurology: Principles and Practice. 3rd ed., Swaiman, K.F. ed. New York, NY: Elsevier Science, Inc. pp. 787-800.

  22. Zoghbi HY and Orr HT. 2000. Glutamine repeats and neurodegeneration. Annual Review of Neuroscience, 23:217-247

  23. Heintz N and Zoghbi HY. 2000. Insights from mouse models into the molecular basis of neurodegeneration. Annual Review of Physiology 62:779-802.

  24. Cummings CJ and Zoghbi HY. 2000. Fourteen and counting: unraveling trinucleotide repeat diseases. Human Molecular Genetics, Apr 12; 9(6): 909-916.

  25. Cummings CJ and ZoghbiHY. 2000. Trinucleotide Repeats: Mechanisms and Pathophysiology. Annual Review of Genomics and Human Genetics 1:281-328

  26. Lin, X, and Zoghbi, HY. 2000. Spinocerebellar ataxia type 1. In Cerebellar Ataxia (ed. Mario Manto and Massimo Pandolfo), Cambridge University Press.

  27. Amir, R, and Zoghbi, HY. 2000. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 97(2): 147-52.

  28. Zoghbi, H. Y., Gage, F. H,. and Choi, D. W. 2000. Neurobiology of disease. Current Opinion in Neurobiology 10:655-660.

  29. Zoghbi HY. 2000. Spinocerebellar ataxias. Neurobiol Dis. 7(5): 523-7.

  30. Shahbazian MD, Zoghbi HY. 2000. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. Apr; 14(2): 171-6.

  31. Orr, HT and Zoghbi, HY. 2000. Genetics and Pathogenesis of Huntington Disease. In: UpToDate, ed. Rose, BD (Wellesley, MA: UpToDate).

  32. Brandt, V. and Zoghbi, HY. 2000. Spinocerebellar ataxia type 1, In: Medical Genetics Knowledge Base, Pagon, R. (ed), published online at www.GeneClinics.org.

  33. I. Van den Veyver and H.Y. Zoghbi. 2000. Methyl-CpG-binding protein 2 mutations in Rett syndrome. Current Opinion in Genetics and Development, Jun 10:3 275-9.

  34. Orr HT and Zoghbi HY. 2000. Pathophysiology of SCA1, In: Molecular Mechanisms of Neurodegenerative Diseases, Chesselet, M-F. (ed.), Humana Press (Totowa, New Jersey), pp. 271-283.

  35. Zoghbi, H.Y. and Orr, H.T. 2001. The spinocerebellar ataxias. In The Metabolic and Molecular Bases of Inherited Disease, 8th edition, eds. C. R. Scriver, et al.: McGraw-Hill, New York .

  36. Zoghbi, H.Y. and Francke, U. 2001. Rett Syndrome. In The Metabolic and Molecular Bases of Inherited Disease, 8th edition, eds. C. R. Scriver, et al.: McGraw-Hill, New York, pp. 6329-6338.

  37. Wang, V., Zoghbi, H. 2001. Genetic regulation of cerebellar development. Nature Reviews Neuroscience, 2:484-491.

  38. Orr, HT, and Zoghbi, HY. 2001. SCA1 Molecular Genetics: A History of a Thirteen-Year Collaboration Against Glutamines. Hum. Mol. Genet. Oct 1;10(20):2307-11. Review.

  39. Opal, P. and Zoghbi, HY. 2001. The Hereditary Ataxias. In: Emery & Rimoin’s Principles and Practice of Medical Genetics, 4th edition, Korf, B (ed.). (London: Harcourt Health Sciences).

  40. Brandt, V. and Zoghbi, HY. 2001. Rett Syndrome, In: Medical Genetics Knowledge Base, Pagon, R. (ed), published online at www.GeneClinics.org.

  41. Opal, P. and Zoghbi, HY. 2001. The Hereditary Ataxias. In: Diseases of the Nervous System, 3rd edition. Asbury, McDonald, McArthur, McKhann, & Goadsby (eds.). (Cambridge: Cambridge University Press) Vol. II, pp 1880-1895.

  42. Nelson, D. and Zoghbi, H. 2001. Article 528A: Trinucleotide Repeat Expansions: disorders of. In: Encyclopedia of the Human Genome. (London: Nature Publishing Group).

  43. Van den Veyver IB, Zoghbi HY. 2001 Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. Dec; 23 Suppl 1:S147-51.

  44. Opal, P. and Zoghbi, HY. 2002. The role of chaperones in polyglutamine disease. Trends in Molecular Medicine,5:232-6.

  45. Zoghbi H, and Botas J. 2002. Mouse and fly models of neurodegeneration. Trends Genet. 18(9):463.

  46. Shahbazian M and Zoghbi H. 2002. Rett syndrome and MeCP2: Linking epigenetics and neuronal function. American Journal of Human Genetics. 71:1259-272.

  47. Watase K, and Zoghbi HY. 2003 Modelling brain diseases in mice: The challenges of design and analysis. Nature Reviews Genetics 4:296-307.

  48. Yoo, S-Y. and Zoghbi, HY. 2003. Chapter 31: Dominantly Inherited Spinocerebellar Syndromes. In: Neuromuscular Disorders of Infancy and Childhood: A Clinician’s Approach. , HR Jones, DC De Vivo and BT Darras, eds. (Woburn, MA: Butterworth-Heinemann ) p1165-1183.

  49. Neul, JL and Zoghbi, HY. 2004. Rett Syndrome: A Prototypical Neurodevelopmental Disorder. The Neuroscientist 10:118-128.

  50. Brandt V, and Zoghbi H. 2003. Chapter 1: Triplet Repeat Disease: General Concepts and Mechanisms of Disease. In: The Molecular and Genetic Basis of Neurological and Psychiatric Disease 3rd Edition. RN Rosenberg, SB Prusiner, S DiMauro, RL Barchi, and LM Kunkel, eds. (Elsevier:Butterworth-Heinemann) p 1-13.

  51. Zoghbi HY. 2005. MeCP2 dysfunction in humans and mice. J Child Neurol 20:736-40.

  52. Gatchel JR, Zoghbi HY. 2005. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6:743-55.

  53. Maricich SM and Zoghbi HY. 2005. The Cerebellum and the Hereditary Ataxias, In: Pediatric Neurology: Principles and Practice. Swaiman KF, Ashwal S, and Ferriero D, eds. (PA:Elsevier) p 1241-1269.

  54. Zoghbi HY, 2006. Trinucleotide Repeat Disorders. In textbook Principles of Molecular Medicine, 2nd Edition, Runge MS and Patterson C, eds (MA: Blackwell Scientific Publishers), pp 1114-1122.

  55. Zoghbi HY and Beaudet AL. 2006. Epigenetics and Human Disease. Reinberg D, Allis CD, Jenuwein T, eds. (New York: CSH Press) p 435-456.

  56. Opal P and Zoghbi HY. 2006. The Hereditary Ataxias. In: Emery and Rimoin's Principles and Practice of Medical Genetics. Rimoin L, Korf B, Pyeritz RE and Connor M, eds. (PA: Elsevier) in press.

  57. Zoghbi, HY. 2006. Genetic Mechanisms in Degenerative Diseases of the Nervous System. In: Principles of Neural Science, 5th edition. Kandel ER, Schwartz JH, Jessell TM, Siegelbaum S, and Hudspeth J, eds. (New York: McGraw-Hill) in press.

  58. Beaudet AL and Zoghbi HY. 2006. A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism. In Understanding Autism: From Basic Neuroscience to Treatment. Mouldin SO and Rubenstein JLR, eds. (CRC Press: Boca Raton, FL) p 95-111.

  59. Orr HT and Zoghbi HY. 2007. Trinucleotide Repeat Disorders. Ann. Rev. Neurosci., 30:576-621..

  60. Brandt V and Zoghbi HY. 2007, Triplet Repeats: Genetics, Clinical Features, and Pathogenesis. In The Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg RN, DiMauro S, Paulson H, Ptacek, and Nestler E, eds. (PA:Lippincott Williams & Wilkins) in press.

  61. Chahrour M and Zoghbi HY. 2007. The Story of Rett Syndrome: From Clinic to Neurobiology. Neuron 56:422-37.