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Prospective investigation of FOXP1 syndrome.
Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD. Siper PM, et al. Among authors: di marino d. Mol Autism. 2017 Oct 24;8:57. doi: 10.1186/s13229-017-0172-6. eCollection 2017. Mol Autism. 2017. PMID: 29090079 Free PMC article.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S. Breen MS, et al. Among authors: di marino d. Am J Hum Genet. 2020 Sep 3;107(3):555-563. doi: 10.1016/j.ajhg.2020.07.003. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758449 Free PMC article.
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation.
De Rubeis S, Pasciuto E, Li KW, Fernández E, Di Marino D, Buzzi A, Ostroff LE, Klann E, Zwartkruis FJ, Komiyama NH, Grant SG, Poujol C, Choquet D, Achsel T, Posthuma D, Smit AB, Bagni C. De Rubeis S, et al. Among authors: di marino d. Neuron. 2013 Sep 18;79(6):1169-82. doi: 10.1016/j.neuron.2013.06.039. Neuron. 2013. PMID: 24050404 Free PMC article.
Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation.
D'Annessa I, Gandaglia A, Brivio E, Stefanelli G, Frasca A, Landsberger N, Di Marino D. D'Annessa I, et al. Among authors: di marino d. Biochim Biophys Acta Gen Subj. 2018 May;1862(5):1180-1189. doi: 10.1016/j.bbagen.2018.02.005. Epub 2018 Feb 8. Biochim Biophys Acta Gen Subj. 2018. PMID: 29428602 Free article.
A Novel Mecp2Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome.
Gandaglia A, Brivio E, Carli S, Palmieri M, Bedogni F, Stefanelli G, Bergo A, Leva B, Cattaneo C, Pizzamiglio L, Cicerone M, Bianchi V, Kilstrup-Nielsen C, D'Annessa I, Di Marino D, D'Adamo P, Antonucci F, Frasca A, Landsberger N. Gandaglia A, et al. Among authors: di marino d, d adamo p, d annessa i. Mol Neurobiol. 2019 Jul;56(7):4838-4854. doi: 10.1007/s12035-018-1412-2. Epub 2018 Nov 6. Mol Neurobiol. 2019. PMID: 30402709 Free article.
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