HUDA ZOGHBI to Genotype
This is a "connection" page, showing publications HUDA ZOGHBI has written about Genotype.
Connection Strength
0.436
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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: 0.069
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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: 0.054
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Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
Score: 0.034
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Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec; 71(6):1259-72.
Score: 0.031
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Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8.
Score: 0.030
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.029
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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: 0.029
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Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595.
Score: 0.026
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Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000; 97(2):147-52.
Score: 0.025
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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: 0.023
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 1997 Oct; 49(4):1009-13.
Score: 0.022
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Deficiency of Capicua disrupts bile acid homeostasis. Sci Rep. 2015 Feb 05; 5:8272.
Score: 0.018
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.017
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.009
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Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol. 2003 Dec 08; 163(5):1033-44.
Score: 0.008
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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: 0.006
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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: 0.005