Zoghbi, Huda Y.

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 4,990

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 1,823

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 1,632

The Story of Rett Syndrome: From Clinic to Neurobiology

Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 1,265

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., et al. (2010) · Nature

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 1,168

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 797

A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

Lim, J., Hao, T., Shaw, C., Patel, A. J., Szabó, G., Rual, J.-F., Fisk, C. J., Li, N., Smolyar, A., Hill, D. E., et al. (2006) · Cell

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 789

Postnatal neurodevelopmental disorders: meeting at the synapse?

Zoghbi, H. Y. (2003) · Science

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 691

Identification of genes that modify ataxin-1-induced neurodegeneration

Fernandez-Funez, P., Nino-Rosales, M. L., de Gouyon, B., She, W.-C., Luchak, J. M., Martinez, P., Turiegano, E., Benito, J., Capovilla, M., Skinner, P. J., et al. (2000) · Nature

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 661

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

Collins, A. L., Levenson, J. M., Vilaythong, A. P., Richman, R., Armstrong, D. L., Noebels, J. L., David Sweatt, J., & Zoghbi, H. Y. (2004) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 626

Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome

Moretti, P., Levenson, J. M., Battaglia, F., Atkinson, R., Teague, R., Antalffy, B., Armstrong, D., Arancio, O., Sweatt, J. D., & Zoghbi, H. Y. (2006) · The Journal of Neuroscience

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 545

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 520

MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number

Chao, H.-T., Zoghbi, H. Y., & Rosenmund, C. (2007) · Neuron

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 511

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

Neul, J. L., Fang, P., Barrish, J., Lane, J., Caeg, E. B., Smith, E. O., Zoghbi, H., Percy, A., & Glaze, D. G. (2008) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 498

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2

Young, J. I., Hong, E. P., Castle, J. C., Crespo-Barreto, J., Bowman, A. B., Rose, M. F., Kang, D., Richman, R., Johnson, J. M., Berget, S., et al. (2005) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 484

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1

Chen, H.-K., Fernandez-Funez, P., Acevedo, S. F., Lam, Y. C., Kaytor, M. D., Fernandez, M. H., Aitken, A., Skoulakis, E. M. C., Orr, H. T., Botas, J., et al. (2003) · Cell

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 414

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

Ramocki, M. B., & Zoghbi, H. Y. (2008) · Nature

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 399

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y. (2000) · Nature Neuroscience

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 374

A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration

Watase, K., Weeber, E. J., Xu, B., Antalffy, B., Yuva-Paylor, L., Hashimoto, K., Kano, M., Atkinson, R., Sun, Y., Armstrong, D. L., et al. (2002) · Neuron

Genetic Neurodegenerative DiseasesAmyotrophic Lateral Sclerosis Research

Cited by 359

ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology

Lam, Y. C., Bowman, A. B., Jafar-Nejad, P., Lim, J., Richman, R., Fryer, J. D., Hyun, E. D., Duvick, L. A., Orr, H. T., Botas, J., et al. (2006) · Cell

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 326

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Lim, J., Crespo-Barreto, J., Jafar-Nejad, P., Bowman, A. B., Richman, R., Hill, D. E., Orr, H. T., & Zoghbi, H. Y. (2008) · Nature

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 311

Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Emamian, E. S., Kaytor, M. D., Duvick, L. A., Zu, T., Tousey, S. K., Zoghbi, H. Y., Clark, H. B., & Orr, H. T. (2003) · Neuron

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 305

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

Chen, L., Chen, K., Lavery, L. A., Baker, S. A., Shaw, C. A., Li, W., & Zoghbi, H. Y. (2015) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 301