HUDA ZOGHBI to Adolescent
This is a "connection" page, showing publications HUDA ZOGHBI has written about Adolescent.
Connection Strength
0.228
-
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: 0.037
-
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.023
-
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82.
Score: 0.021
-
The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.018
-
Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Ann Clin Transl Neurol. 2025 Feb; 12(2):433-447.
Score: 0.015
-
Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8.
Score: 0.013
-
Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.012
-
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: 0.011
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology. 1998 Oct; 51(4):1081-6.
Score: 0.010
-
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: 0.009
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol. 1995 Jul; 38(1):68-72.
Score: 0.008
-
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
Score: 0.007
-
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.007
-
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: 0.006
-
Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol. 1989 Jan; 25(1):56-60.
Score: 0.005
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.004
-
Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med. 1985 Oct 10; 313(15):921-4.
Score: 0.004
-
The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.004
-
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet. 1997 Sep; 61(3):634-41.
Score: 0.002
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May; 10(1):89-93.
Score: 0.002
-
Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol. 1994 Apr; 35(4):464-70.
Score: 0.002
-
Neuropathology of Rett syndrome. Acta Neuropathol. 1988; 76(2):142-58.
Score: 0.001
-
Rett syndrome: qualitative and quantitative differentiation from autism. J Child Neurol. 1988; 3 Suppl:S65-7.
Score: 0.001
-
Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol. 1987 Oct; 44(10):1053-6.
Score: 0.001
-
Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987 Apr; 21(4):377-82.
Score: 0.001
-
Rett syndrome: discrimination of typical and variant forms. Brain Dev. 1987; 9(5):458-61.
Score: 0.001
-
Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 1985; 7(3):300-4.
Score: 0.001