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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM. Romani M, et al. Among authors: carluccio ma. Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72. Orphanet J Rare Dis. 2014. PMID: 24886560 Free PMC article.
Cerebellum and neuropsychiatric disorders: insights from ARSACS.
Mignarri A, Tessa A, Carluccio MA, Rufa A, Storti E, Bonelli G, Marcotulli C, Santorelli FM, Leonardi L, Casali C, Federico A, Dotti MT. Mignarri A, et al. Among authors: carluccio ma. Neurol Sci. 2014 Jan;35(1):95-7. doi: 10.1007/s10072-013-1592-5. Epub 2013 Dec 7. Neurol Sci. 2014. PMID: 24318559
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Da Pozzo P, et al. Among authors: carluccio ma. Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27. Neurol Sci. 2017. PMID: 28130605
85 results