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MECP2 Mutation Interrupts Nucleolin-mTOR-P70S6K Signaling in Rett Syndrome Patients.
Olson CO, Pejhan S, Kroft D, Sheikholeslami K, Fuss D, Buist M, Ali Sher A, Del Bigio MR, Sztainberg Y, Siu VM, Ang LC, Sabourin-Felix M, Moss T, Rastegar M. Olson CO, et al. Among authors: del bigio mr. Front Genet. 2018 Dec 19;9:635. doi: 10.3389/fgene.2018.00635. eCollection 2018. Front Genet. 2018. PMID: 30619462 Free PMC article.
Cellular commitment in the developing cerebellum.
Marzban H, Del Bigio MR, Alizadeh J, Ghavami S, Zachariah RM, Rastegar M. Marzban H, et al. Among authors: del bigio mr. Front Cell Neurosci. 2015 Jan 12;8:450. doi: 10.3389/fncel.2014.00450. eCollection 2014. Front Cell Neurosci. 2015. PMID: 25628535 Free PMC article. Review.
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP; FORGE Canada Consortium; Canadian Rare Diseases: Models & Mechanisms Network,; Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE. Frosk P, et al. Among authors: del bigio mr. J Med Genet. 2017 Jul;54(7):490-501. doi: 10.1136/jmedgenet-2016-104296. Epub 2017 Mar 6. J Med Genet. 2017. PMID: 28264986 Free PMC article.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D'Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L; Care4Rare Canada Consortium; Christodoulou J, Boycott KM, Dragon F, Kernohan KD. Sleiman S, et al. Among authors: del bigio mr. Hum Mol Genet. 2022 Feb 21;31(4):614-624. doi: 10.1093/hmg/ddab247. Hum Mol Genet. 2022. PMID: 34542157
253 results