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Congenital muscular dystrophies with cognitive impairment. A population study.
Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: pantaleoni c. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5. Neurology. 2010. PMID: 20820001
Periventricular heterotopia in a male child with USP9X missense variant.
De Laurentiis A, Ciaccio C, Erbetta A, Pinelli M, Nigro V, Pantaleoni C, D'Arrigo S. De Laurentiis A, et al. Among authors: pantaleoni c. Am J Med Genet A. 2023 May;191(5):1350-1354. doi: 10.1002/ajmg.a.63123. Epub 2023 Jan 21. Am J Med Genet A. 2023. PMID: 36680497
Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience.
Taddei M, Esposito S, Marucci G, Erbetta A, Ferroli P, Valentini LG, Pantaleoni C, D'Arrigo S, Saletti V, Pollo B, Paterra R, Riva D, Bulgheroni S. Taddei M, et al. Among authors: pantaleoni c. Diagnostics (Basel). 2023 Apr 27;13(9):1568. doi: 10.3390/diagnostics13091568. Diagnostics (Basel). 2023. PMID: 37174959 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: pantaleoni c. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
126 results