|Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2|
RE Amir, IB Van den Veyver, M Wan, CQ Tran, U Francke, HY Zoghbi
Nature genetics 23 (2), 185-188, 1999
|Towards a proteome-scale map of the human protein–protein interaction network|
JF Rual, K Venkatesan, T Hao, T Hirozane-Kishikawa, A Dricot, N Li, ...
Nature 437 (7062), 1173-1178, 2005
|Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1|
HT Orr, M Chung, S Banfi, TJ Kwiatkowski Jr, A Servadio, AL Beaudet, ...
Nature genetics 4 (3), 221-226, 1993
|Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.|
RC Allen, HY Zoghbi, AB Moseley, HM Rosenblatt, JW Belmont
American journal of human genetics 51 (6), 1229, 1992
|MeCP2, a key contributor to neurological disease, activates and represses transcription|
M Chahrour, SY Jung, C Shaw, X Zhou, STC Wong, J Qin, HY Zoghbi
Science 320 (5880), 1224-1229, 2008
|Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel|
O Zhuchenko, J Bailey, P Bonnen, T Ashizawa, DW Stockton, C Amos, ...
Nature genetics 15 (1), 62-69, 1997
|Glutamine repeats and neurodegeneration|
HY Zoghbi, HT Orr
Annual review of neuroscience 23 (1), 217-247, 2000
|Trinucleotide repeat disorders|
HT Orr, HY Zoghbi
Annu. Rev. Neurosci. 30, 575-621, 2007
|The story of Rett syndrome: from clinic to neurobiology|
M Chahrour, HY Zoghbi
Neuron 56 (3), 422-437, 2007
|The DNA sequence of the human X chromosome|
MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ...
Nature 434 (7031), 325-337, 2005
|Math1: an essential gene for the generation of inner ear hair cells|
NA Bermingham, BA Hassan, SD Price, MA Vollrath, N Ben-Arie, ...
Science 284 (5421), 1837-1841, 1999
|Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes|
HT Chao, H Chen, RC Samaco, M Xue, M Chahrour, J Yoo, JL Neul, ...
Nature 468 (7321), 263-269, 2010
|Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice|
IA Klement, PJ Skinner, MD Kaytor, H Yi, SM Hersch, HB Clark, ...
Cell 95 (1), 41-53, 1998
|Requirement of Math1 for secretory cell lineage commitment in the mouse intestine|
Q Yang, NA Bermingham, MJ Finegold, HY Zoghbi
Science 294 (5549), 2155-2158, 2001
|Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1|
CJ Cummings, MA Mancini, B Antalffy, DB DeFranco, HT Orr, HY Zoghbi
Nature genetics 19 (2), 148-154, 1998
|Diseases of unstable repeat expansion: mechanisms and common principles|
JR Gatchel, HY Zoghbi
Nature Reviews Genetics 6 (10), 743-755, 2005
|A protein–protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration|
J Lim, T Hao, C Shaw, AJ Patel, G Szabó, JF Rual, CJ Fisk, N Li, ...
Cell 125 (4), 801-814, 2006
|Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3|
MD Shahbazian, JI Young, LA Yuva-Paylor, CM Spencer, BA Antalffy, ...
Neuron 35 (2), 243-254, 2002
|Postnatal neurodevelopmental disorders: meeting at the synapse?|
Science 302 (5646), 826-830, 2003
|Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities|
HY Zoghbi, MF Bear
Cold Spring Harbor perspectives in biology 4 (3), a009886, 2012