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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: mariotti c. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families.
Mariotti C, Castellotti B, Pareyson D, Testa D, Eoli M, Antozzi C, Silani V, Marconi R, Tezzon F, Siciliano G, Marchini C, Gellera C, Donato SD. Mariotti C, et al. Neuromuscul Disord. 2000 Aug;10(6):391-7. doi: 10.1016/s0960-8966(99)00132-7. Neuromuscul Disord. 2000. PMID: 10899444
Cerebellar/spinocerebellar syndromes.
Mariotti C, Di Donato S. Mariotti C, et al. Neurol Sci. 2001 Nov;22 Suppl 2:S88-92. doi: 10.1007/s100720100042. Neurol Sci. 2001. PMID: 11794486 Review.
663 results