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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal dominant 73"
Page 1
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, de Scliar MO, Giuliani LR, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Chaves LD, et al. Mol Neurobiol. 2023 Jul;60(7):3758-3769. doi: 10.1007/s12035-023-03311-0. Epub 2023 Mar 21. Mol Neurobiol. 2023. PMID: 36943625
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. ...Three of the autosomal genes had no obvious correlation with the observed XCI skewing. …
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximat …
Comparison of longitudinal Aβ in nondemented elderly and Down syndrome.
Tudorascu DL, Anderson SJ, Minhas DS, Yu Z, Comer D, Lao P, Hartley S, Laymon CM, Snitz BE, Lopresti BJ, Johnson S, Price JC, Mathis CA, Aizenstein HJ, Klunk WE, Handen BL, Christian BT, Cohen AD. Tudorascu DL, et al. Neurobiol Aging. 2019 Jan;73:171-176. doi: 10.1016/j.neurobiolaging.2018.09.030. Epub 2018 Sep 27. Neurobiol Aging. 2019. PMID: 30359879 Free PMC article.
Using Pittsburgh Compound B ([(11)C]PiB), a pattern of striatal amyloid beta (Abeta) that is elevated relative to neocortical binding has been reported, similar to that of nondemented autosomal dominant AD mutation carriers. However, it is not known whether changes …
Using Pittsburgh Compound B ([(11)C]PiB), a pattern of striatal amyloid beta (Abeta) that is elevated relative to neocortical binding has be …
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. Matthews AM, et al. Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1. Eur J Med Genet. 2017. PMID: 28778789
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alte …
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequenc …
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S. Kurihara M, et al. Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4. Cerebellum. 2018. PMID: 28895081
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoc …
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. …