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Infantile childhood onset of spinocerebellar ataxia type 2.
Di Fabio R, Santorelli F, Bertini E, Balestri M, Cursi L, Tessa A, Pierelli F, Casali C. Di Fabio R, et al. Among authors: santorelli f. Cerebellum. 2012 Jun;11(2):526-30. doi: 10.1007/s12311-011-0315-9. Cerebellum. 2012. PMID: 21975856
A novel mtDNA point mutation in maternally inherited cardiomyopathy.
Casali C, Santorelli FM, D'Amati G, Bernucci P, DeBiase L, DiMauro S. Casali C, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 1995 Aug 15;213(2):588-93. doi: 10.1006/bbrc.1995.2172. Biochem Biophys Res Commun. 1995. PMID: 7646516
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: santorelli fm. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.
MtDNA-related idiopathic dilated cardiomyopathy.
Tessa A, Vilarinho L, Casali C, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Eur J Hum Genet. 1999 Dec;7(8):847-8. doi: 10.1038/sj.ejhg.5200380. Eur J Hum Genet. 1999. PMID: 10602359 No abstract available.
Chronic diarrhea associated with the A3243G mtDNA mutation.
Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Santorelli FM, et al. Neurology. 2000 Jan 11;54(1):266-7. doi: 10.1212/wnl.54.1.266. Neurology. 2000. PMID: 10636171 No abstract available.
610 results