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The following term was not found in PubMed: Chudley-Schwartz
Page 1
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cereb …
Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor …
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258. Int J Mol Sci. 2020. PMID: 32070051 Free PMC article. Review.
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. ...MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it is the …
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. ...MPS II is a rare …
NAA10-related syndrome.
Wu Y, Lyon GJ. Wu Y, et al. Exp Mol Med. 2018 Jul 27;50(7):1-10. doi: 10.1038/s12276-018-0098-x. Exp Mol Med. 2018. PMID: 30054457 Free PMC article. Review.
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability …
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in ma …
Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.
Felmlee MA, Jones RS, Rodriguez-Cruz V, Follman KE, Morris ME. Felmlee MA, et al. Pharmacol Rev. 2020 Apr;72(2):466-485. doi: 10.1124/pr.119.018762. Pharmacol Rev. 2020. PMID: 32144120 Free PMC article. Review.
Expressed at the blood brain barrier, MCT8 mutations have been associated with an X-linked intellectual disability, known as Allan-Herndon-Dudley syndrome. ...Recent studies have highlighted the importance of MCTs in glucose, lipid, and hormone …
Expressed at the blood brain barrier, MCT8 mutations have been associated with an X-linked intellectual disability …
Seizures and X-linked intellectual disability.
Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Stevenson RE, et al. Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22377486 Free PMC article. Review.
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-linked syndromes in the company of somatic, metabolic, neuromuscular, or behavioral abnormalities. Seizures accompany intellectual …
Intellectual disability occurs as an isolated X-linked trait and as a component of recognizable X-link …
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3-dependent Sonic hedgehog signaling. …
As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a pro …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical and radiological features, at least help to order the pretest probabilities. The X-linked disorder, fragile-X tremor ataxia …
Though the SCAs can be difficult to separate clinically, variations in prevalence in different populations, together with various clinical a …
Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.
Ito H, Nagata KI. Ito H, et al. Cells. 2022 Jan 17;11(2):303. doi: 10.3390/cells11020303. Cells. 2022. PMID: 35053419 Free PMC article. Review.
CNKSR2 is encoded by the CNKSR2 gene located in the X chromosome. CNKSR2 is now considered as a causative gene of the Houge type of X-linked syndromic mental retardation (MRXHG), an X-linked Intellectual Disability (XLID) th …
CNKSR2 is encoded by the CNKSR2 gene located in the X chromosome. CNKSR2 is now considered as a causative gene of the Houge type of …
Review: Danon disease: Review of natural history and recent advances.
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Neuropathol Appl Neurobiol. 2020 Jun;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25. Neuropathol Appl Neurobiol. 2020. PMID: 31698507 Review.
Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an …
Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retarda …
Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
Bonefas KM, Iwase S. Bonefas KM, et al. FEBS J. 2022 Apr;289(8):2301-2317. doi: 10.1111/febs.16196. Epub 2021 Oct 8. FEBS J. 2022. PMID: 34514717 Free PMC article. Review.
Such ectopic germline gene expression has been reported in several NDDs, including immunodeficiency, centromeric instability, facial anomalies syndrome 1; Kleefstra syndrome 1; MeCP2 duplication syndrome; and mental retardation, X-linked synd …
Such ectopic germline gene expression has been reported in several NDDs, including immunodeficiency, centromeric instability, facial anomali …
85 results