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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 42"
Page 1
Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.
Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Muñoz L, Estellés T, Illán-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A. Fortea J, et al. Lancet. 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9. Lancet. 2020. PMID: 32593336 Free PMC article.
Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: apolipoprotein E allele carrier status; plasma concentrations of amyloid beta peptides 1-42 and 1-40 and their ratio (Abeta(1-42 …
Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: …
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). ...We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by l …
We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (C …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance. ...Pre-existing developmental delay (94.3%), early age at onset of ES (<6 months; 86.2%), central hypoton …
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the …
A Farnesyltransferase Inhibitor Restores Cognitive Deficits in Tsc2+/- Mice through Inhibition of Rheb1.
Sugiura H, Shimada T, Moriya-Ito K, Goto JI, Fujiwara H, Ishii R, Shitara H, Taya C, Fujii S, Kobayashi T, Hino O, Worley PF, Yamagata K. Sugiura H, et al. J Neurosci. 2022 Mar 23;42(12):2598-2612. doi: 10.1523/JNEUROSCI.0449-21.2022. Epub 2022 Feb 4. J Neurosci. 2022. PMID: 35121635 Free PMC article.
Rheb1 activates mTORC1, which may cause refractory epilepsy, intellectual disability, and autism. The mTORC1 inhibitors have been used for TSC patients with intractable epilepsy. ...In addition, lonafarnib treatment ameliorated contextual memory impairments and rest …
Rheb1 activates mTORC1, which may cause refractory epilepsy, intellectual disability, and autism. The mTORC1 inhibitors have b …
Phenotype associated with APP duplication in five families.
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, Verny C, Letournel F, Pasquier F, Vital A, Checler F, Frebourg T, Campion D, Hannequin D. Cabrejo L, et al. Brain. 2006 Nov;129(Pt 11):2966-76. doi: 10.1093/brain/awl237. Epub 2006 Sep 7. Brain. 2006. PMID: 16959815
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). ...Age of onset of dementia ranged from 42 to 59 years, ICH fro …
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's …
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Niida Y, et al. Hum Mutat. 1999;14(5):412-22. doi: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10533067
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. ...Upon comparison of clinical manifestations, including the incidence of intellectual disability, we coul …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas inv …
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium; Fitzpatrick DR. Williamson KA, et al. Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462371 Free PMC article.
Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c. 1066G>T [p.Glu356*]) in YAP1. The phenotypes o …
Exome sequence analysis of affected individuals from two families with autosomal-dominant inheritance of coloboma identified t …
Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions.
Pottier C, Wallon D, Lecrux AR, Maltete D, Bombois S, Jurici S, Frebourg T, Hannequin D, Campion D. Pottier C, et al. J Alzheimers Dis. 2012;28(3):561-6. doi: 10.3233/JAD-2011-111148. J Alzheimers Dis. 2012. PMID: 22045488
Using a highly sensitive multiplex fluorescent RT-PCR assay, we compared peripheral blood cells expression of AbetaPP mRNA among sporadic AD patients (n = 133), autosomal dominant early-onset AD cases (ADEOAD, n = 21), Down syndrome patients (n = 21), AD patients wi …
Using a highly sensitive multiplex fluorescent RT-PCR assay, we compared peripheral blood cells expression of AbetaPP mRNA among sporadic AD …