HUDA ZOGHBI to Male
This is a "connection" page, showing publications HUDA ZOGHBI has written about Male.
Connection Strength
1.154
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Alpha-Synuclein Phosphomimetic Y39E and S129D Knock-In Mice Show Cytosolic Alpha-Synuclein Localization without Developing Neurodegeneration or Motor Deficits. eNeuro. 2025 Apr; 12(4).
Score: 0.037
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Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis. Neuron. 2025 Feb 05; 113(3):380-395.e8.
Score: 0.037
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Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice. Proc Natl Acad Sci U S A. 2024 Sep 24; 121(39):e2406479121.
Score: 0.036
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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900.
Score: 0.034
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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021 04; 592(7855):596-600.
Score: 0.028
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Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions. Genes Dev. 2021 04 01; 35(7-8):489-494.
Score: 0.028
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Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 2021 01 26; 10.
Score: 0.028
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MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons. J Neurosci. 2020 11 04; 40(45):8746-8766.
Score: 0.027
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Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. Elife. 2020 04 22; 9.
Score: 0.026
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Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9.
Score: 0.026
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A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516.
Score: 0.024
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An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.
Score: 0.024
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RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep. 2018 10 16; 25(3):726-736.e7.
Score: 0.024
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Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 2018 03 23; 7.
Score: 0.023
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.023
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An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594.
Score: 0.022
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Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5.
Score: 0.020
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Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet. 2015 Oct 15; 24(R1):R10-6.
Score: 0.019
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MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14.
Score: 0.019
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Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Hum Mol Genet. 2015 Apr 01; 24(7):1813-23.
Score: 0.018
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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
Score: 0.017
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RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331.
Score: 0.016
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An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28; 152(5):984-96.
Score: 0.016
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Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 06; 75(5):799-809.
Score: 0.016
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Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11.
Score: 0.015
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ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011 Oct 18; 21(4):746-57.
Score: 0.015
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Adult neural function requires MeCP2. Science. 2011 Jul 08; 333(6039):186.
Score: 0.014
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.014
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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9.
Score: 0.014
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.013
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Merkel cells are essential for light-touch responses. Science. 2009 Jun 19; 324(5934):1580-2.
Score: 0.012
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Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Dev Biol. 2009 Mar 15; 327(2):339-51.
Score: 0.012
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MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9.
Score: 0.012
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.011
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Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182.
Score: 0.011
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Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 2007 Jun; 132(7):2478-88.
Score: 0.011
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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72.
Score: 0.010
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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27.
Score: 0.010
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MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40.
Score: 0.010
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
Score: 0.009
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Ann Clin Transl Neurol. 2025 Feb; 12(2):433-447.
Score: 0.009
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.009
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Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
Score: 0.009
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Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease. JCI Insight. 2024 Mar 21; 9(9).
Score: 0.009
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Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30.
Score: 0.008
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Mental retardation: X marks the spot. Neurology. 2003 Jul 22; 61(2):156-7.
Score: 0.008
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Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Mol Cell Neurosci. 2003 May; 23(1):1-12.
Score: 0.008
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SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 06; 37(3):383-401.
Score: 0.008
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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
Score: 0.008
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Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. Gastroenterology. 2002 Jul; 123(1):345-51.
Score: 0.008
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A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13; 34(6):905-19.
Score: 0.008
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Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001 Dec; 8(6):974-81.
Score: 0.007
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Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715.
Score: 0.007
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Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
Score: 0.007
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Functional conservation of atonal and Math1 in the CNS and PNS. Development. 2000 Mar; 127(5):1039-48.
Score: 0.007
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Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Hum Mol Genet. 2000 Mar 01; 9(4):477-88.
Score: 0.007
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Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors. Neuron. 2020 04 08; 106(1):37-65.e5.
Score: 0.007
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Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470.
Score: 0.007
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Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Genomics. 2000 Jan 01; 63(1):97-107.
Score: 0.006
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Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000; 1:281-328.
Score: 0.006
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Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors. Proc Natl Acad Sci U S A. 2019 10 22; 116(43):21715-21726.
Score: 0.006
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.006
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Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 2019 08 22; 178(5):1159-1175.e17.
Score: 0.006
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Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84.
Score: 0.006
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Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. JCI Insight. 2018 11 02; 3(21).
Score: 0.006
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A Druggable Genome Screen Identifies Modifiers of a-Synuclein Levels via a Tiered Cross-Species Validation Approach. J Neurosci. 2018 10 24; 38(43):9286-9301.
Score: 0.006
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Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome. eNeuro. 2018 May-Jun; 5(3).
Score: 0.006
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Impaired spatial memory codes in a mouse model of Rett syndrome. Elife. 2018 07 20; 7.
Score: 0.006
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Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model. Neurobiol Dis. 2018 08; 116:93-105.
Score: 0.006
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ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018 03 21; 97(6):1235-1243.e5.
Score: 0.006
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Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res. 1997 May; 41(5):722-6.
Score: 0.005
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49(4):527-536.
Score: 0.005
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The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. PLoS One. 2016; 11(12):e0166703.
Score: 0.005
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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). Genomics. 1996 Jun 01; 34(2):166-72.
Score: 0.005
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Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul; 38(1):68-72.
Score: 0.005
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Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1995 Jul; 10(3):344-50.
Score: 0.005
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Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet. 1995 May; 10(1):94-8.
Score: 0.005
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Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. J Neurosci. 2015 Apr 08; 35(14):5870-83.
Score: 0.005
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
Score: 0.004
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.004
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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. Genomics. 1993 Dec; 18(3):627-35.
Score: 0.004
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Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet. 1993 Nov 15; 47(7):1124-34.
Score: 0.004
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Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects. PLoS One. 2013; 8(8):e70610.
Score: 0.004
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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul; 4(3):221-6.
Score: 0.004
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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993 Jul; 2(7):947-52.
Score: 0.004
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Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013 Jan 01; 22(1):96-109.
Score: 0.004
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Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 1992 Jun; 13(2):375-80.
Score: 0.004
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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. Am J Hum Genet. 1991 Nov; 49(5):972-7.
Score: 0.004
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Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels. Genomics. 1991 Aug; 10(4):921-6.
Score: 0.004
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In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord. J Neurosci. 2011 Jul 27; 31(30):10859-71.
Score: 0.004
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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. Am J Hum Genet. 1991 Jul; 49(1):23-30.
Score: 0.004
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Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 1991 Feb; 9(2):278-82.
Score: 0.003
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Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6. Genomics. 1990 Feb; 6(2):352-7.
Score: 0.003
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203.
Score: 0.003
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Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet. 1989 Feb; 44(2):255-63.
Score: 0.003
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Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. Genomics. 1988 Nov; 3(4):396-8.
Score: 0.003
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Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. Am J Hum Genet. 1988 Jun; 42(6):877-83.
Score: 0.003
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Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol. 1988 Jun; 23(6):580-4.
Score: 0.003
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A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15; 17(12):1718-27.
Score: 0.003
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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 04; 56(1):58-65.
Score: 0.003
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.003
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Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Ann Neurol. 1986 Sep; 20(3):367-9.
Score: 0.003
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.002
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.002
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 Jun; 74(6):1216-24.
Score: 0.002
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Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003 May 08; 38(3):375-87.
Score: 0.002
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Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 01; 11(25):3237-48.
Score: 0.002
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Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci. 2002 Apr 01; 22(7):2753-63.
Score: 0.002
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Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome. 2001 Oct; 12(10):796-8.
Score: 0.002
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Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000 Nov 02; 408(6808):101-6.
Score: 0.002
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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36.
Score: 0.002
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct; 26(2):191-4.
Score: 0.002
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Autoregulation and multiple enhancers control Math1 expression in the developing nervous system. Development. 2000 Mar; 127(6):1185-96.
Score: 0.002
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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999 Dec; 65(6):1520-9.
Score: 0.002
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Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol. 1999 Mar; 45(3):407-11.
Score: 0.002
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Increased trinucleotide repeat instability with advanced maternal age. Hum Mol Genet. 1997 Nov; 6(12):2135-9.
Score: 0.001
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9.
Score: 0.001
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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93.
Score: 0.001
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Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia: relationship to ataxia severity. Neurology. 1994 Sep; 44(9):1738-46.
Score: 0.001
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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr; 3(4):547-52.
Score: 0.001
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Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. 1994 Jan 15; 49(2):229-34.
Score: 0.001
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A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9.
Score: 0.001
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec; 51(6):1229-39.
Score: 0.001
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Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 01; 40(3):354-64.
Score: 0.001
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A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 1991 Mar; 9(3):420-8.
Score: 0.001
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Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6. Genomics. 1989 Jul; 5(1):139-43.
Score: 0.001
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Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol. 1988; 3 Suppl:S65-7.
Score: 0.001