Huda Zoghbi
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Lebanese scientist
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Why Is Huda Zoghbi Influential?
(Suggest an Edit or Addition)According to Wikipedia, Huda Yahya Zoghbi , born Huda El-Hibri, is a Lebanese-born American geneticist, and a professor at the Departments of Molecular and Human Genetics, Neuroscience and Neurology at the Baylor College of Medicine. She is the director of the Jan and Dan Duncan Neurological Research Institute. She became the editor of the Annual Review of Neuroscience as of 2018.
Huda Zoghbi's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 (1999) (4591)
- Towards a proteome-scale map of the human protein–protein interaction network (2005) (2922)
- Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. (1992) (1685)
- MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription (2008) (1670)
- Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 (1993) (1589)
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel (1997) (1575)
- Trinucleotide repeat disorders. (2007) (1357)
- Glutamine repeats and neurodegeneration. (2000) (1268)
- The Story of Rett Syndrome: From Clinic to Neurobiology (2007) (1171)
- The DNA sequence of the human X chromosome (2005) (1072)
- Math1: an essential gene for the generation of inner ear hair cells. (1999) (1069)
- Ataxin-1 Nuclear Localization and Aggregation Role in Polyglutamine-Induced Disease in SCA1 Transgenic Mice (1998) (1005)
- Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine (2001) (905)
- A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration (2006) (783)
- Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3 (2002) (776)
- Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005) (773)
- Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? (2003) (685)
- Identification of genes that modify ataxin-1-induced neurodegeneration (2000) (668)
- Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012) (650)
- Math1 is essential for genesis of cerebellar granule neurons (1997) (650)
- GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes (2010) (614)
- Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. (2004) (589)
- SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat (1995) (580)
- Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures (1997) (531)
- Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1 (1998) (525)
- Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome (2006) (523)
- Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. (2002) (520)
- Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice (1999) (514)
- Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. (2001) (508)
- The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. (2002) (507)
- Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. (1999) (496)
- Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 (2000) (490)
- Math1 Expression Redefines the Rhombic Lip Derivatives and Reveals Novel Lineages within the Brainstem and Cerebellum (2005) (486)
- Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I (1993) (476)
- MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number (2007) (474)
- Genetic regulation of cerebellar development (2001) (469)
- Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. (2005) (454)
- Fourteen and counting: unraveling trinucleotide repeat diseases. (2000) (442)
- Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome (2008) (420)
- Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia Type 1 (2003) (415)
- Neurobiology of disease (2000) (405)
- Failure of neuronal homeostasis results in common neuropsychiatric phenotypes (2008) (399)
- Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1 (2000) (372)
- Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes (2000) (356)
- Identification and characterization of the gene causing type 1 spinocerebellar ataxia (1994) (349)
- Trinucleotide repeats: mechanisms and pathophysiology. (2000) (336)
- Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. (2005) (334)
- Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. (2000) (314)
- A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration (2002) (314)
- Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1 (2008) (312)
- Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. (2005) (309)
- ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology (2006) (307)
- Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals (1995) (304)
- Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice (2003) (303)
- SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties (2013) (299)
- Proprioceptor Pathway Development Is Dependent on MATH1 (2001) (291)
- Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. (2007) (289)
- Annual Review of Neuroscience (1995) (286)
- Coordination of Early Protective Immunity to Viral Infection by Regulatory T Cells (284)
- MeCP2 dysfunction in Rett syndrome and related disorders. (2006) (283)
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome (2009) (279)
- Merkel Cells Are Essential for Light-Touch Responses (2009) (276)
- Purkinje Cell Expression of a Mutant Allele of SCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations (1997) (270)
- Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice (2004) (261)
- Functional conservation of atonal and Math1 in the CNS and PNS. (2000) (260)
- Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males (2006) (259)
- The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 (1997) (250)
- The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival (2003) (246)
- Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities (2009) (246)
- Adult Neural Function Requires MeCP2 (2011) (245)
- Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress (2008) (243)
- Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus (2009) (237)
- Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome (2006) (235)
- MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome (2015) (229)
- Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. (2005) (225)
- SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity (2003) (220)
- Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1* (2009) (215)
- The AXH Domain of Ataxin-1 Mediates Neurodegeneration through Its Interaction with Gfi-1/Senseless Proteins (2005) (212)
- Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders (2011) (212)
- Spinocerebellar ataxia type 1. (1995) (210)
- Mice Lacking Ataxin-1 Display Learning Deficits and Decreased Hippocampal Paired-Pulse Facilitation (1998) (207)
- Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. (1998) (204)
- Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. (1993) (204)
- RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice (2006) (200)
- Rett syndrome and MeCP2: linking epigenetics and neuronal function. (2002) (199)
- miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis (2008) (198)
- An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders (2013) (196)
- A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. (2008) (194)
- CHIP Protects from the Neurotoxicity of Expanded and Wild-type Ataxin-1 and Promotes Their Ubiquitination and Degradation* (2006) (191)
- Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. (1992) (189)
- Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1 (1995) (187)
- Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. (2009) (184)
- Preclinical research in Rett syndrome: setting the foundation for translational success (2012) (180)
- Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. (2000) (179)
- MECP2 disorders: from the clinic to mice and back. (2015) (177)
- Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway (2014) (175)
- The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors (2007) (175)
- Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. (2004) (172)
- Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis. (1996) (171)
- Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype (1998) (171)
- The Future of Psychiatric Research: Genomes and Neural Circuits (2010) (171)
- Lessons learned from studying syndromic autism spectrum disorders (2016) (170)
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome (2011) (167)
- Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders (2011) (165)
- Rett Syndrome: A Prototypical Neurodevelopmental Disorder (2004) (164)
- Deletion of Atoh1 Disrupts Sonic Hedgehog Signaling in the Developing Cerebellum and Prevents Medulloblastoma (2009) (162)
- Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model (2007) (159)
- Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. (2000) (159)
- atonal Regulates Neurite Arborization but Does Not Act as a Proneural Gene in the Drosophila Brain (2000) (159)
- Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction (2006) (155)
- Math1 Is Essential for the Development of Hindbrain Neurons Critical for Perinatal Breathing (2009) (153)
- Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. (2013) (149)
- Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p (1995) (148)
- A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. (2003) (148)
- Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. (1998) (147)
- Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. (1996) (146)
- In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development (2011) (146)
- Reduction of biogenic amine levels in the Rett syndrome. (1985) (146)
- Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome (2011) (144)
- The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. (2001) (143)
- X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. (2004) (143)
- Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice (2015) (141)
- Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels (2008) (141)
- SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776 (2010) (141)
- Generation of a Mouse Model for Arginase II Deficiency by Targeted Disruption of the Arginase II Gene (2001) (140)
- Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations (2001) (135)
- Patterns of X chromosome inactivation in the rett syndrome (1990) (132)
- Solving the Autism Puzzle a Few Pieces at a Time (2011) (131)
- Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes (2015) (129)
- Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels (2015) (127)
- Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis (2010) (126)
- Rett's syndrome: Characterization of respiratory patterns and sleep (1987) (126)
- Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred (1988) (123)
- A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. (1997) (123)
- Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome (2013) (123)
- Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua (2011) (122)
- RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1 (2013) (118)
- The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis (1997) (113)
- Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligos (2015) (113)
- Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1 (2009) (112)
- Polyglutamine diseases: protein cleavage and aggregation (1999) (111)
- Drosophila atonal Fully Rescues the Phenotype of Math1 Null Mice New Functions Evolve in New Cellular Contexts (2002) (109)
- Cerebrospinal fluid biogenic amines and biopterin in rett syndrome (1989) (109)
- Epigenetics and Human Disease. (2016) (108)
- Mouse and fly models of neurodegeneration. (2002) (107)
- Impaired Conditioned Fear and Enhanced Long-Term Potentiation inFmr2 Knock-Out Mice (2002) (107)
- Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10 (2010) (106)
- Atoh1-Lineal Neurons Are Required for Hearing and for the Survival of Neurons in the Spiral Ganglion and Brainstem Accessory Auditory Nuclei (2009) (106)
- Methyl-CpG-binding protein 2 mutations in Rett syndrome. (2000) (106)
- NR2F1 mutations cause optic atrophy with intellectual disability. (2014) (104)
- Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans (2017) (103)
- Increased trinucleotide repeat instability with advanced maternal age. (1997) (103)
- Characterization of the Transcriptome of Nascent Hair Cells and Identification of Direct Targets of the Atoh1 Transcription Factor (2015) (103)
- Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality (2003) (102)
- Increased Expression of α1A Ca2+Channel Currents Arising from Expanded Trinucleotide Repeats in Spinocerebellar Ataxia Type 6 (2001) (102)
- A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. (1994) (101)
- 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. (1991) (101)
- Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado‐Joseph disease (1995) (100)
- A high resolution deletion map of human chromosome Xp22 (1993) (98)
- SUMOylation of the Polyglutamine Repeat Protein, Ataxin-1, Is Dependent on a Functional Nuclear Localization Signal* (2005) (96)
- Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. (1992) (95)
- Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. (2001) (95)
- Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. (2000) (94)
- ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. (2011) (92)
- Insights from mouse models into the molecular basis of neurodegeneration. (2000) (91)
- Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. (2013) (91)
- Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. (2018) (90)
- Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes (2007) (89)
- Modelling brain diseases in mice: the challenges of design and analysis (2003) (89)
- Math 1 is essential forgenesis of cerebellargranuleneurons (1997) (89)
- A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures (2018) (89)
- Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model (2016) (89)
- Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy (1999) (88)
- Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. (2000) (86)
- dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1 (2007) (85)
- Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. (1994) (85)
- MeCP2 Dysfunction in Humans and Mice (2005) (85)
- Enhanced SUMOylation in polyglutamine diseases. (2002) (84)
- Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome (2016) (84)
- Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways (2016) (83)
- Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors (2019) (83)
- The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7 (2008) (83)
- Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders (2016) (82)
- Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. (2000) (82)
- Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. (1991) (82)
- Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors (2020) (80)
- Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. (2007) (80)
- Reversing Neurodegeneration:A Promise Unfolds (2000) (79)
- Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. (1987) (79)
- Balanced X chromosome inactivation patterns in the Rett syndrome brain. (2002) (79)
- Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. (2000) (78)
- TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau (2016) (77)
- Expanding Our Understanding of Polyglutamine Diseases through Mouse Models (1999) (76)
- An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. (1995) (76)
- The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia (1997) (75)
- Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. (1988) (75)
- Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23. (1993) (75)
- Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice (2014) (75)
- Insufficient Evidence for “Autism-Specific” Genes (2020) (75)
- Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model (2016) (74)
- Mapmodulin/Leucine-rich Acidic Nuclear Protein Binds the Light Chain of Microtubule-associated Protein 1B and Modulates Neuritogenesis* (2003) (74)
- Neuropathology of Rett syndrome. (1988) (73)
- The clinical and genetic spectrum of spinocerebellar ataxia 14 (2005) (72)
- Mice lacking tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory (2003) (71)
- SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. (2001) (71)
- Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. (1990) (70)
- ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism (2018) (70)
- Progress in pathogenesis studies of spinocerebellar ataxia type 1. (1999) (69)
- Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. (2016) (69)
- Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone (1994) (68)
- Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. (2002) (68)
- Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). (1996) (67)
- Genetic Aspects of Rett Syndrome (1988) (67)
- Genetic Modifiers of MeCP2 Function in Drosophila (2008) (66)
- Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome (2001) (66)
- Identification of a self-association region within the SCA1 gene product, ataxin-1. (1997) (66)
- Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3ε haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration (2011) (66)
- Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies (2020) (65)
- Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. (2004) (64)
- The expanding world of ataxins (1996) (63)
- NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation (2015) (63)
- Dissection of the Cellular and Molecular Events that Position Cerebellar Purkinje Cells: A Study of the math1Null-Mutant Mouse (2002) (62)
- Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome (2005) (61)
- Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. (2003) (61)
- Neuropathology of Rett syndrome (2004) (61)
- Neurodegeneration: From cellular concepts to clinical applications (2016) (60)
- MeCP2: only 100% will do (2012) (59)
- Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. (2012) (59)
- Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). (1996) (58)
- Rett syndrome: disruption of epigenetic control of postnatal neurological functions. (2015) (57)
- Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. (2018) (56)
- Dinucleotide repeat polymorphism at the D6S105 locus. (1991) (56)
- A de novo X;3 translocation in Rett syndrome. (1990) (55)
- Erratum: Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures (1998) (55)
- Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. (2015) (55)
- Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses (2012) (55)
- In Vivo Neuronal Subtype-Specific Targets of Atoh1 (Math1) in Dorsal Spinal Cord (2011) (55)
- α-synuclein—a link between Parkinson and Alzheimer diseases? (1997) (55)
- Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia (1994) (54)
- Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model (2011) (54)
- Rett syndrome: initial experience with an emerging clinical entity. (1985) (53)
- Phosphorylation of ATXN1 at Ser776 in the cerebellum (2009) (52)
- Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. (2001) (52)
- Parkinson's Disease Genetics and Pathophysiology. (2021) (52)
- Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis (2016) (52)
- 14-3-3 Binding to Ataxin-1(ATXN1) Regulates Its Dephosphorylation at Ser-776 and Transport to the Nucleus* (2011) (51)
- The role of LANP and ataxin 1 in E4F‐mediated transcriptional repression (2007) (51)
- The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (1993) (51)
- Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum (2013) (50)
- Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. (1997) (50)
- Spinocerebellar ataxia type 10 is rare in populations other than Mexicans (2002) (50)
- An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function (2019) (49)
- An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways * (2017) (48)
- Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia (2010) (48)
- Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. (1989) (48)
- Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. (1992) (47)
- Genetic basis of Rett syndrome. (2002) (46)
- Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. (1988) (45)
- The structural genes, MEP1A and MEP1B, for the α and β subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively (1995) (44)
- The Effects of the Polyglutamine Repeat Protein Ataxin-1 on the UbL-UBA Protein A1Up* (2004) (43)
- RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins (2018) (43)
- Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. (1993) (42)
- Atoh1 Governs the Migration of Postmitotic Neurons that Shape Respiratory Effectiveness at Birth and Chemoresponsiveness in Adulthood (2012) (42)
- Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn (2017) (41)
- Generation and Characterization of LANP/pp32 Null Mice (2004) (41)
- Neurogenetics: Advancing the “Next-Generation” of Brain Research (2010) (41)
- CAG Repeats in SCA6 (1997) (40)
- Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity (2018) (40)
- Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua. (2013) (38)
- Loss of Ataxin-1 Potentiates Alzheimer’s Pathogenesis by Elevating Cerebral BACE1 Transcription (2019) (38)
- Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). (1991) (38)
- Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma (2018) (37)
- Rett Syndrome and the Ongoing Legacy of Close Clinical Observation (2016) (37)
- Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. (1991) (37)
- Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR. (1991) (37)
- Reduction of Purkinje Cell Pathology in SCA1 Transgenic Mice by p53 Deletion (2001) (37)
- A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. (1994) (36)
- A Druggable Genome Screen Identifies Modifiers of α-Synuclein Levels via a Tiered Cross-Species Validation Approach (2018) (36)
- The yin and yang of MeCP2 phosphorylation (2009) (35)
- A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1 (2015) (35)
- The role of chaperones in polyglutamine disease. (2002) (34)
- Brief Report: MECP2 Mutations in People Without Rett Syndrome (2014) (34)
- Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. (1989) (34)
- Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. (1999) (34)
- Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau (2018) (34)
- Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations (2018) (33)
- Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. (1998) (33)
- Rett syndrome: what do we know for sure? (2009) (32)
- MeCP 2 dysfunction in Rett syndrome and related disorders (2006) (32)
- Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. (1991) (30)
- Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome (2020) (30)
- Deficiency of Capicua disrupts bile acid homeostasis (2015) (29)
- A cell-based screen for modulators of ataxin-1 phosphorylation. (2005) (29)
- Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome (2021) (27)
- Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice (2018) (27)
- Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. (2002) (26)
- Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. (2009) (26)
- Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. (1991) (25)
- Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1 (2013) (25)
- Solving the Autism Puzzle a Few Pieces at a Time (2011) (25)
- Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy (2020) (25)
- Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives (2019) (24)
- Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice (2014) (24)
- An RNA interference screen identifies druggable regulators of MeCP2 stability (2017) (24)
- Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE). (1992) (24)
- CRISPRcloud: a secure cloud‐based pipeline for CRISPR pooled screen deconvolution (2017) (23)
- Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice (2002) (22)
- Motor neuron degeneration correlates with respiratory dysfunction in SCA1 (2018) (22)
- Rett syndrome: qualitative and quantitative differentiation from autism. (1988) (22)
- Spinocerebellar ataxia type 1. (1995) (22)
- Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model (2018) (22)
- miR760 regulates ATXN1 levels via interaction with its 5′ untranslated region (2020) (21)
- Acute effect of glycerol on net cerebrospinal fluid production in dogs. (1985) (21)
- A centromere-based genetic map of the short arm of human chromosome 6. (1991) (20)
- Impaired spatial memory codes in a mouse model of Rett syndrome (2018) (20)
- Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. (2000) (20)
- Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. (2000) (20)
- The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis (2019) (20)
- Dinucleotide repeat polymorphism at the D6S109 locus. (1991) (20)
- Genome Wide Distribution of Linker Histone H1.0 is Independent of MeCP2 (2018) (19)
- Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6. (1992) (19)
- An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment (2017) (19)
- Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiency (1986) (19)
- Getting Back to Basics (2006) (19)
- Rett Syndrome: Qualitative and Quantitative Differentiation from Autism (1988) (18)
- Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
- Erratum: Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 (Proceedings of the National Academy of Sciences of the United States of America (December 6, 2005) 102, 49 (17551-17558) DOI: 10.1073/pnas.0507856102) (2006) (18)
- Rett syndrome: Discrimination of typical and variant forms (1987) (18)
- Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome (2021) (18)
- A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability (2019) (18)
- Identification of a novel phosphorylation site in ataxin-1. (2005) (18)
- A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos. (2016) (18)
- Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. (1993) (17)
- Mutation analysis of the M6b gene in patients with Rett syndrome. (1998) (17)
- Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation (2020) (17)
- Mouse models as a tool for discovering new neurological diseases (2019) (16)
- Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome (2017) (16)
- Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. (1990) (16)
- Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development (2011) (16)
- Characterization of the Zebrafish atxn1/axh Gene Family (2009) (16)
- PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3′Seq data using vector projections and non-negative matrix factorization (2020) (15)
- Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2* (2015) (15)
- Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth (2017) (15)
- Molecular genetics of hereditary ataxias. (1994) (15)
- PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1 (2018) (15)
- Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. (1988) (15)
- Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4 (2001) (15)
- Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin‐1 (2007) (14)
- SILencing misbehaving proteins (2005) (14)
- Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes (2015) (14)
- The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively. (1995) (13)
- Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions (2019) (13)
- Pathogenesis of polyglutamine-induced disease: A model for SCA1. (1999) (13)
- Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels. (1994) (12)
- Trinucleotide repeat disorders in pediatrics (1995) (12)
- Pharmacometabolomic Signature of Ataxia SCA1 Mouse Model and Lithium Effects (2013) (12)
- Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. (1998) (12)
- Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders (2020) (12)
- Assignment of an intron-containing human heat-shock protein gene (hsp90 beta, 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. (1993) (12)
- Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex (2019) (11)
- MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons (2020) (11)
- The Basics of Translation (2013) (11)
- Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway (2014) (11)
- An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. (1992) (11)
- Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. (1998) (10)
- Development of the brainstem respiratory circuit (2019) (10)
- Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism (2020) (10)
- Huntingtin's critical cleavage (2006) (9)
- Gcn 5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA 7 mouse model (2011) (9)
- Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. (2019) (9)
- Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia (2020) (9)
- Spinocerebellar Ataxias (2000) (9)
- Doublecortin-like Kinase 1 Regulates α-Synuclein Levels and Toxicity (2019) (8)
- Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders (2020) (8)
- Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism (2021) (8)
- Correction: 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 of the United States of America (2015) 112, 17 (5509-5514) DOI: 10.1073/pnas.1505909112) (2015) (8)
- Generation and Characterization of LANP / pp 32 Null Mice (2004) (8)
- Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons (2021) (8)
- Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice (2021) (8)
- The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development (2016) (7)
- Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1 (2021) (7)
- Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes. (1995) (7)
- Introduction: Rett syndrome. (2002) (7)
- Mental retardation (2003) (7)
- Disruption of MeCP2–TCF20 complex underlies distinct neurodevelopmental disorders (2022) (6)
- A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1 (2021) (6)
- Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice (2001) (6)
- 91 – The Cerebellum and the Hereditary Ataxias (2017) (6)
- Dual targeting of brain region‐specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1 (2021) (5)
- Excessive ERK-dependent synaptic clustering drives enhanced motor learning in the MECP2 duplication syndrome mouse model of autism (2017) (5)
- Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. (1996) (5)
- Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. (2019) (5)
- Molecular neuroscience: BAC-to-BAC images of the brain (2003) (5)
- CRISPRCloud2: A cloud-based platform for deconvolving CRISPR screen data (2018) (5)
- Clues about the pathogenesis of SCA1: From biochemical and molecular studies of ataxin-1. (1998) (5)
- Correction: The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 (1998) (4)
- Maturation of Purkinje cell firing properties relies on granule cell neurogenesis (2020) (4)
- A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations (2022) (4)
- GENE-BASED THERAPEUTICS FOR RARE GENETIC NEURODEVELOPMENTAL PSYCHIATRIC DISORDERS. (2022) (4)
- Linkage studies in dominantly inherited ataxias. (1993) (4)
- Rett Syndrome: Motor and Behavioral Differentiation from Autism (1987) (4)
- Two dinucleotide repeat polymorphisms at the D6S202 locus. (1991) (3)
- Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1 (2022) (3)
- Ataxin1L Is a Regulator of HSC Function Highlighting the Utility of Cross-Tissue Comparisons for Gene Discovery (2013) (3)
- Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions (2021) (3)
- Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. (1995) (3)
- Author response: Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice (2018) (3)
- TRIM28 regulates the stability and toxicity of alpha-synuclein and tau through a common mechanism (2015) (3)
- Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model (2022) (3)
- A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism (2006) (3)
- Molecular Genetics and Neurobiology of Neurodegenerative and Neurodevelopmental Disorders (1997) (3)
- Correlation of Electroencephalographic Characteristics With Clinical Staging (2016) (3)
- Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments (2019) (3)
- Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. (2015) (3)
- Supporting Online Material for Adult Neural Function Requires MeCP 2 (2011) (3)
- Solving the puzzle of neurological diseases: an interview with Huda Zoghbi (2017) (2)
- MspI and MboI polymorphisms at the DXS704 locus. (1991) (2)
- Author response: Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome (2016) (2)
- CORRIGENDUM: Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway (2014) (2)
- Presymptomatic training mitigates functional deficits in Rett syndrome mice (2021) (2)
- TaqI polymorphism at the D6S91 locus. (1990) (2)
- Targeting tau protein stability in alzheimer disease to identify novel therapeutic entry points (2015) (2)
- The Hereditary Ataxias (2013) (2)
- Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. (2020) (2)
- Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1 (2022) (2)
- MECP2 Mutations in People without Rett Syndrome (2014) (2)
- BclI and MspI polymorphisms at the D6S90 locus. (1990) (2)
- Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods (2021) (2)
- The Transcription Factor Pou3f1 Sheds Light on the Development and Molecular Diversity of Glutamatergic Cerebellar Nuclear Neurons in the Mouse (2022) (2)
- Evolutionarily conserved regulators of tau identify targets for new therapies (2022) (2)
- Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis (1991) (2)
- Repeat after Me(CP2)! (2021) (2)
- Epigenetics of Psychiatric Diseases (2011) (2)
- Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic Profiles (2021) (2)
- Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation (2015) (2)
- A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q. (1988) (2)
- Correction for Chen et al., MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome (2015) (2)
- SAVE: A secure cloud-based pipeline for CRISPR pooled screen deconvolution (2017) (1)
- Spinocerebellar Ataxia and Other Disorders of Trinucleotide Repeats (1998) (1)
- 717. RNAi Therapy for Dominant Neurodegenerative Diseases (2004) (1)
- Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center (2002) (1)
- C. Thomas Caskey (1938-2022). (2022) (1)
- Dysfunction of D2 dopamine receptor expressing neurons underlies manic-like behaviors in mice modeling SHANK3 duplication disorder (2021) (1)
- The Atoh1-expressing cell lineage develops into both hair cells and supporting cells (2009) (1)
- Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. (1992) (1)
- EXCLUSION OF A CHROMOSOME-6 FERRITIN SEQUENCE AS A CANDIDATE FOR THE HEMOCHROMATOSIS GENE (1989) (1)
- Author response: Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy (2020) (1)
- From Anatomy to Electrophysiology: Clinical Lasker Goes Deep (2014) (1)
- Author response: Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation (2020) (1)
- Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles (2022) (1)
- Mapping of human methylmalonyl CoA mutase (MUT) on chromosome 6 (1988) (1)
- Author response: Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders (2016) (1)
- Erratum: 14-3-3 binding to Ataxin-1 (ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus (Journal of Biological Chemistry (2011) 286 (34606-34616)) (2013) (1)
- Author response: Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth (2017) (1)
- Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis (1988) (1)
- Loss of Dnmt3a dependent methylation in inhibitory neurons impairs neural function through a mechanism that impacts Rett syndrome (2019) (1)
- Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1 (2023) (1)
- Partial loss of CFIm25 causes aberrant alternative polyadenylation and learning deficits (2019) (1)
- Detection of chimerism in YAC clones. (1996) (1)
- Strategy to selectively remove mutant proteins could combat neurodegeneration (2019) (1)
- Linkage analysis (2019) (0)
- Author response: Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity (2018) (0)
- Decision letter: Developmental loss of MeCP2 from VIP interneurons impairs cortical function and behavior (2020) (0)
- brain stimulation induces gene expression and splicing changes that promote 2 neurogenesis and plasticity 3 4 (2018) (0)
- Correction (2015) (0)
- Purkinje cells and their trees (2021) (0)
- Author response: A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1 (2015) (0)
- 2019 Victor A. McKusick Leadership Award (2020) (0)
- Bidirectional control of airway responsiveness by endogenous cannabinoids. (2000) (0)
- Literature-based predictions of treatments for genetic disease pathology (2022) (0)
- The organ of Corti, the sensory organ responsible for hearing in mammals, differentiates within the cochlear epithelium to produce a complex array of sensory hair cells and non-sensory supporting cells whose organization is crucial for normal ear (2002) (0)
- Creating Coordination in the Cerebellum Catania, 2–4 October 2003 (2004) (0)
- Mechanotransduction mechanisms in Merkel cells (2009) (0)
- 14-3-3 binding to Ataxin-1 (ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. (2013) (0)
- Remembering Steve Warren (1953-2021): A giant in the field of genetics (2021) (0)
- CHARACTERIZATION OF TRANSGENIC MICE MADE ATAXIC BY EXPRESSION OF A MUTANT ALLELE FOR ATAXIN-1 THAT CONTAINS AN EXPANDED CAG REPEAT (1996) (0)
- Editorial overview: Neurobiology of disease (2022) (0)
- Scientists. Curiosity and observation. (2013) (0)
- Author response: Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice (2021) (0)
- University of Dundee The Chromatin Modifier MSK 1 / 2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development (2016) (0)
- Marvin A. Fishman (2021) (0)
- Editorial overview: Surprises still in store (2002) (0)
- Expression profiling in Math1 null and heterozygous intestine: identification of genes involved in specification of epithelial lineages and normal embryonic development (2003) (0)
- Polyglutamine tract vs. protein context in SCA1 pathogenesis (2020) (0)
- 28. Rett syndrome and beyond: recurrent spontaneous and familial mutations at CpG hotspots in the methyl-CpG binding protein-2 gene (2000) (0)
- Author response: Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice (2014) (0)
- Subcellular Distribution of Mutant Ataxin-2 Discovered (1999) (0)
- Genome-wide distribution of linker histone H1.0 is independent of MeCP2 (2018) (0)
- Neurobiology of Disease Learning and Memory and Synaptic Plasticity Are Impaired in a Mouse Model of Rett Syndrome (2005) (0)
- Transgenic Mouse Models of CAG Trinucleotide Repeat Neurologic Diseases (1999) (0)
- You are kindly invited to the lectures by (2011) (0)
- Detection of Early Neurochemical Changes Related to Neurodegeneration in a Spinocerebellar Ataxia Type 1 (SCA1) Mouse Model by 1H MRS at 9.4 Tesla (2010) (0)
- Yasunari Sakai Autism Disorders Protein Interactome Reveals Converging Molecular Pathways Among (2011) (0)
- The gene for 6p-linked spinocerebellar ataxia is tightly linked to the marker D6S89 on the short arm of chromosome 6 even in a family for which close linkage to HLA is excluded (1992) (0)
- Interview with Huda Zoghbi (2016) (0)
- Bias toward long gene misregulation in synaptic disorders can be an artefact of amplification-based methods (2017) (0)
- Deleting Mecp2 from the entire cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice (2020) (0)
- Author response: Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons (2021) (0)
- Research highlights (2007) (0)
- Annual Review of Neuroscience, 2015 (2015) (0)
- PHYSICAL AND GENETIC-MAPPING OF HLA-F ON 6P213 (1991) (0)
- Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse (2023) (0)
- Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations (2018) (0)
- For Huda Zoghbi, collaboration is the key to unlocking the secrets of neurobiology. Interview by Kathryn Claiborn. (2011) (0)
- Editorial Board (2011) (0)
- Mouse Cochlea of Sensory Transduction in Outer Hair Cells of the Tonotopic Gradient in the Developmental Acquisition (2015) (0)
- Title: Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome Abbreviated title: Bouton hyperstability in MECP2 duplication syndrome (2017) (0)
- by polyglutamine disease protein Ataxin-1 and Capicua Structural basis of protein complex formation and reconfiguration Material Supplemental (2013) (0)
- MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function (2022) (0)
- Stxbp1/Munc18-1 haploinsufficiency in mice recapitulates key features of STXBP1 encephalopathy and impairs cortical inhibition (2019) (0)
- Author response: TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau (2016) (0)
- Brief Report: MECP2 Mutations in People Without Rett Syndrome (2013) (0)
- Pathophysiology of SCA1 (2001) (0)
- 4 is A Selectively Expressed α-neurexin Ligand That Modulates Specific Cerebellar 1 Synapses and Motor Functions 2 3 (0)
- Trinucleotide Repeat Expansions: Disorders (2006) (0)
- Dominantly Inherited Spinocerebellar Syndromes (2015) (0)
- Regional Rescue of SCA1 Phenotypes by 14-3-3ε Haploinsufficiency in Mice Underscores Complex Pathogenicity in Neurodegeneration (2010) (0)
- Author response: Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes (2015) (0)
- Mapping of not1 linking clones to chromosome 6q: Application to malignant melanoma (1989) (0)
- Extensive DNA Polymorphism at the Factor XiIla ( F I 3 A ) Locus and Linkage to HLA (2006) (0)
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- Data from: Impaired spatial memory codes in a mouse model of Rett syndrome (2018) (0)
- The potentially protective role of an understudied tau isoform in Alzheimer’s disease (2022) (0)
- Author response: Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions (2019) (0)
- Author response: Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome (2020) (0)
- Title: Doublecortin like kinase 1 regulates -Synuclein levels and (2020) (0)
- Compositions and methods for the therapeutic use of an atonal-associated gene with the sequence (2000) (0)
- Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice (2004) (0)
- The transcription factor Pou3f1 provides a new map to the glutamatergic neurons of the cerebellar nuclei (2020) (0)
- Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans (2017) (0)
- And image evaluation system that identifies characteristics of biological specimens. (2003) (0)
- Modeling polyglutamine pathogenesis in mice: SCA1 (2000) (0)
- Forthcoming papers/Published Special Issues (2003) (0)
- Neurobiology of Disease Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP 2 Duplication Syndrome (2013) (0)
- Prognostic value of plasma hormonal disturbances in adult multi-trauma patients without traumatic brain injury. A prospective research study (2016) (0)
- Author response: Impaired spatial memory codes in a mouse model of Rett syndrome (2018) (0)
- Characterization of a novel candidate gene in Xp22.3 with homology to Drosophila ms13 (1999) (0)
- Childhood Disorders of the Synapse: Challenges and Opportunities (2012) (0)
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