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Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Among authors: cassandrini d. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Among authors: cassandrini d. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.
Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: cassandrini d. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: cassandrini d, d amico a. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669
Lipoid proteinosis: case report and review of the literature.
Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM. Di Giandomenico S, et al. Among authors: cassandrini d. Acta Otorhinolaryngol Ital. 2006 Jun;26(3):162-7. Acta Otorhinolaryngol Ital. 2006. PMID: 17063986 Free PMC article. Review.
81 results