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102 results

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Page 1
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Baldassari S, Cervetto C, Amato S, Fruscione F, Balagura G, Pelassa S, Musante I, Iacomino M, Traverso M, Corradi A, Scudieri P, Maura G, Marcoli M, Zara F. Baldassari S, et al. Among authors: iacomino m. Int J Mol Sci. 2022 Sep 11;23(18):10545. doi: 10.3390/ijms231810545. Int J Mol Sci. 2022. PMID: 36142455 Free PMC article.
White matter involvement in a family with a novel PDGFB mutation.
Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Among authors: iacomino m. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F. Lund C, et al. Among authors: iacomino m. Mol Syndromol. 2016 Sep;7(4):234-238. doi: 10.1159/000448367. Epub 2016 Aug 17. Mol Syndromol. 2016. PMID: 27781033 Free PMC article.
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: iacomino m. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.
Santolini I, Celli R, Cannella M, Imbriglio T, Guiducci M, Parisi P, Schubert J, Iacomino M, Zara F, Lerche H; EuroEPINOMICS CoGIE Consortium; Genetic Commission of Italian League Against Epilepsy (LICE); Moyanova S, Ngomba RT, van Luijtelaar G, Battaglia G, Bruno V, Striano P, Nicoletti F. Santolini I, et al. Among authors: iacomino m. Epilepsia. 2017 Nov;58(11):1993-2001. doi: 10.1111/epi.13898. Epub 2017 Sep 15. Epilepsia. 2017. PMID: 28913875
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: iacomino m. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.
Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Iacomino M, et al. Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18. Eur J Paediatr Neurol. 2018. PMID: 29307700
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: iacomino m. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: iacomino m. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C. Panicucci C, et al. Among authors: iacomino m. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
102 results