HUDA ZOGHBI to Alleles
This is a "connection" page, showing publications HUDA ZOGHBI has written about Alleles.
Connection Strength
1.437
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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: 0.370
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The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina. eNeuro. 2023 11; 10(11).
Score: 0.143
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Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 02 15; 111(4):481-492.e8.
Score: 0.135
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Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3).
Score: 0.118
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Strategy to selectively remove mutant proteins could combat neurodegeneration. Nature. 2019 11; 575(7781):57-58.
Score: 0.108
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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3.
Score: 0.075
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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: 0.061
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Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011 Feb 01; 108(5):2142-7.
Score: 0.059
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Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008 Apr 10; 452(7188):713-8.
Score: 0.048
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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 12 18; 16(1):146.
Score: 0.039
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Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
Score: 0.032
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Requirement of Math1 for secretory cell lineage commitment in the mouse intestine. Science. 2001 Dec 07; 294(5549):2155-8.
Score: 0.031
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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998 Oct; 51(4):1081-6.
Score: 0.025
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The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development. PLoS One. 2016; 11(12):e0166703.
Score: 0.022
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Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1. Cold Spring Harb Symp Quant Biol. 1996; 61:649-57.
Score: 0.021
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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: 0.020
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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: 0.020
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Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1. Proc Assoc Am Physicians. 1995 Jul; 107(2):231-6.
Score: 0.020
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Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992 Feb; 50(2):278-87.
Score: 0.016
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Two dinucleotide repeat polymorphisms at the D6S202 locus. Nucleic Acids Res. 1991 Nov 11; 19(21):6060.
Score: 0.016
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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: 0.015
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Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. Neurology. 2002 Mar 26; 58(6):983-4.
Score: 0.008
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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: 0.007
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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: 0.007
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Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 1997 Oct 01; 17(19):7385-95.
Score: 0.006
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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: 0.006
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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93.
Score: 0.005
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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: 0.003