Virtual International Authority File


Huda Zoghbi Lebanese scientist Wikidata

Zoghbi, Huda Y. ISNI National Library of the Netherlands

Zoghbi, Huda 1954- German National Library

Zoghbi, Huda Library of Congress/NACO

VIAF ID: 26283902 (Personal)


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Title Sources
Learning from patients : the science of medicine National Library of the Netherlands
Mental retardation: X marks the spot. Wikidata
Merkel cells are essential for light-touch responses. Wikidata
Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory Wikidata
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Wikidata
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Wikidata
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis Wikidata
Modelling brain diseases in mice: the challenges of design and analysis. Wikidata
Molecular neuroscience: BAC-to-BAC images of the brain. Wikidata
Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Wikidata
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Wikidata
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Wikidata
Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Wikidata
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway Wikidata
A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. Wikidata
Neurodegeneration: From cellular concepts to clinical applications. Wikidata
Neurogenetics: advancing the "next-generation" of brain research. Wikidata
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Wikidata
NR2F1 mutations cause optic atrophy with intellectual disability. Wikidata
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation Wikidata
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Wikidata
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1 Wikidata
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis Wikidata
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Wikidata
Patterns of X chromosome inactivation in the rett syndrome Wikidata
Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects Wikidata
Phosphorylation of ATXN1 at Ser776 in the cerebellum. Wikidata
Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1. Wikidata
Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. Wikidata
Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis. Wikidata
Preclinical research in Rett syndrome: setting the foundation for translational success. Wikidata
Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice Wikidata
Proprioceptor pathway development is dependent on Math1. Wikidata
Protein interactome reveals converging molecular pathways among autism disorders. Wikidata
Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels Wikidata
Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. Wikidata
RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1 Wikidata
Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Wikidata
Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Wikidata
Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Wikidata
Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration Wikidata
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Wikidata
Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Wikidata
Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Wikidata
Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Wikidata
Rett syndrome: a prototypical neurodevelopmental disorder Wikidata
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots Wikidata
Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Wikidata
Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Wikidata
Rett syndrome: Discrimination of typical and variant forms Wikidata
Rett syndrome: disruption of epigenetic control of postnatal neurological functions Wikidata
Rett syndrome: qualitative and quantitative differentiation from autism. Wikidata
Rett syndrome: what do we know for sure? Library of Congress/NACO Wikidata
Rett's syndrome: characterization of respiratory patterns and sleep. Wikidata
Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Wikidata
An RNA interference screen identifies druggable regulators of MeCP2 stability. Wikidata
The role of chaperones in polyglutamine disease. Wikidata
The role of LANP and ataxin 1 in E4F-mediated transcriptional repression Wikidata
The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination Wikidata
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice Wikidata
SAVE: A secure cloud-based pipeline for CRISPR pooled screen deconvolution Wikidata
SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Wikidata
SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Wikidata
Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Wikidata
Scientists. Curiosity and observation. Wikidata
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Wikidata
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Wikidata
SILencing misbehaving proteins Wikidata
Solving the autism puzzle a few pieces at a time. Wikidata
Solving the puzzle of neurological diseases: an interview with Huda Zoghbi Wikidata
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 Wikidata
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Wikidata
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Wikidata
Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Wikidata
The story of Rett syndrome: from clinic to neurobiology Wikidata
Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua Wikidata
SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. Wikidata
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Wikidata
Towards a proteome-scale map of the human protein–protein interaction network Wikidata
TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Wikidata
Trinucleotide Repeat Expansions: Disorders Wikidata
The yin and yang of MeCP2 phosphorylation Wikidata
The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival Wikidata
α-synuclein—a link between Parkinson and Alzheimer diseases? Wikidata

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