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Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. Katzaki E, et al. Among authors: federico a. J Hum Genet. 2007;52(12):1011-1017. doi: 10.1007/s10038-007-0208-4. Epub 2007 Nov 8. J Hum Genet. 2007. PMID: 17990063
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. Katzaki E, et al. Among authors: federico a. J Hum Genet. 2008 Mar;53(3):285. doi: 10.1007/s10038-007-0239-x. J Hum Genet. 2008. PMID: 32041378
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo D, Berti G, Mari F, Bertini E, Rufa A, Battisti C, Sicurelli F, Renieri A, Federico A, Sandhoff K, Malandrini A. Lopergolo D, et al. Among authors: federico a. Neurol Sci. 2022 Apr;43(4):2849-2852. doi: 10.1007/s10072-021-05841-8. Epub 2022 Jan 23. Neurol Sci. 2022. PMID: 35066644
Gene symbol: NOTCH3. Disease: CADASIL.
Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A. Bianchi S, et al. Among authors: federico a. Hum Genet. 2005 Dec;118(3-4):534. Hum Genet. 2005. PMID: 16521241 No abstract available.
1,183 results