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Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Romano F, Madia F, De Marco P, Ognibene M, Guerrisi S, Scala M, Iacomino M, Baldassari S, Vercellino N, Manunza F, Tallone R, Pavanello M, Piatelli G, Garaventa A, Zara F, Capra V. Romano F, et al. Among authors: baldassari s. Birth Defects Res. 2022 Dec 1;114(20):1440-1448. doi: 10.1002/bdr2.2113. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345927
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R. Traverso M, et al. Among authors: baldassari s. Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30. Biochem Biophys Res Commun. 2013. PMID: 23998934
The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.
Baskin JM, Wu X, Christiano R, Oh MS, Schauder CM, Gazzerro E, Messa M, Baldassari S, Assereto S, Biancheri R, Zara F, Minetti C, Raimondi A, Simons M, Walther TC, Reinisch KM, De Camilli P. Baskin JM, et al. Among authors: baldassari s. Nat Cell Biol. 2016 Jan;18(1):132-8. doi: 10.1038/ncb3271. Epub 2015 Nov 16. Nat Cell Biol. 2016. PMID: 26571211 Free PMC article.
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. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M, Doliana R, Marchese M, Capuano A, Striano P, Spessotto P, Bosisio G, Iodice R, Manganelli F, Lanteri P, Orsini A, Baldassari S, Baratto S, Fruscione F, Prada V, Broda P, Tessa A, Bertocci G, Schenone A, Colombatti A, Minetti C, Santorelli FM, Zara F, Fiorillo C. Iacomino M, et al. Among authors: baldassari s. Neurobiol Dis. 2020 Apr;137:104757. doi: 10.1016/j.nbd.2020.104757. Epub 2020 Jan 21. Neurobiol Dis. 2020. PMID: 31978608 Free article.
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Among authors: baldassari s. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
107 results