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The Story of Rett Syndrome: From Clinic to Neurobiology

Neuron (Cambridge, Mass.), 2007-11, Vol.56 (3), p.422-437

2007

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Parkinson's Disease Genetics and Pathophysiology

Annual review of neuroscience, 2021-07, Vol.44 (1), p.87-108

2021

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Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

Cell, 2016-10, Vol.167 (2), p.293-297

Zoghbi, Huda Y.

2016

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Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

Neuron (Cambridge, Mass.), 2015-11, Vol.88 (4), p.651-658

2015

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Trinucleotide repeat disorders

Annual review of neuroscience, 2007-01, Vol.30 (1), p.575-621

2007

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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

Nature (London), 2021-04, Vol.592 (7855), p.596-600

2021

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Solving the Autism Puzzle a Few Pieces at a Time

Neuron (Cambridge, Mass.), 2011-06, Vol.70 (5), p.806-808

2011

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

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (17), p.5509-5514

2015

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Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

Science (American Association for the Advancement of Science), 2003-10, Vol.302 (5646), p.826-830

Zoghbi, Huda Y.

2003

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The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis

Current opinion in neurobiology, 2019-12, Vol.59, p.180-188

2019

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Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model

Neuron (Cambridge, Mass.), 2016-10, Vol.92 (2), p.407-418

2016

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Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

Nature (London), 2015-12, Vol.528 (7580), p.123-126

2015

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MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number

Neuron (Cambridge, Mass.), 2007-10, Vol.56 (1), p.58-65

2007

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Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

The Journal of biological chemistry, 2009-03, Vol.284 (12), p.7425-7429

2009

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Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

Neuron (Cambridge, Mass.), 2016-03, Vol.89 (6), p.1194-1207

2016

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

Science (American Association for the Advancement of Science), 2008-05, Vol.320 (5880), p.1224-1229

2008

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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (43), p.21715-21726

2019

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Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

Cell, 2015-03, Vol.160 (6), p.1087-1098

2015

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MeCP2 dysfunction in Rett syndrome and related disorders

Current opinion in genetics & development, 2006-06, Vol.16 (3), p.276-281

2006

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Lessons learned from studying syndromic autism spectrum disorders

Nature neuroscience, 2016-11, Vol.19 (11), p.1408-1417

2016

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Deletion of Atoh1 Disrupts Sonic Hedgehog Signaling in the Developing Cerebellum and Prevents Medulloblastoma

Science (American Association for the Advancement of Science), 2009-12, Vol.326 (5958), p.1424-1427

2009

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Math1 Expression Redefines the Rhombic Lip Derivatives and Reveals Novel Lineages within the Brainstem and Cerebellum

Neuron (Cambridge, Mass.), 2005-10, Vol.48 (1), p.31-43

2005

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Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

Human molecular genetics, 2013-01, Vol.22 (1), p.96-109

2013

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MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons

The Journal of neuroscience, 2020-11, Vol.40 (45), p.8746-8766

2020

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In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development

Proceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (8), p.3288-3293

2011

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The Story of Rett Syndrome: From Clinic to Neurobiology

Parkinson's Disease Genetics and Pathophysiology

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

Trinucleotide repeat disorders

Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

Solving the Autism Puzzle a Few Pieces at a Time

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

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis

Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

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

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

MeCP2 dysfunction in Rett syndrome and related disorders

Lessons learned from studying syndromic autism spectrum disorders

Deletion of Atoh1 Disrupts Sonic Hedgehog Signaling in the Developing Cerebellum and Prevents Medulloblastoma

Math1 Expression Redefines the Rhombic Lip Derivatives and Reveals Novel Lineages within the Brainstem and Cerebellum

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons

In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development

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