Minetti C - Search Results

1

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.

Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti MP, Bruno C, Minetti C. Merlini L, et al. Among authors: minetti c. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):65-7. doi: 10.1136/jnnp.73.1.65. J Neurol Neurosurg Psychiatry. 2002. PMID: 12082049 Free PMC article.

2

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, Panella A, Zara F, Bricarelli FD, Cordone G, Lisanti MP, Minetti C. Carbone I, et al. Among authors: minetti c. Neurology. 2000 Mar 28;54(6):1373-6. doi: 10.1212/wnl.54.6.1373. Neurology. 2000. PMID: 10746614

3

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, Volonte D, Lucania G, Pavan A, Bonilla E, Lisanti MP, Cordone G. Minetti C, et al. Am J Pathol. 2002 Jan;160(1):265-70. doi: 10.1016/S0002-9440(10)64370-2. Am J Pathol. 2002. PMID: 11786420 Free PMC article.

4

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C. Bruno C, et al. Among authors: minetti c. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

5

Congenital myopathies.

Bruno C, Minetti C. Bruno C, et al. Among authors: minetti c. Curr Neurol Neurosci Rep. 2004 Jan;4(1):68-73. doi: 10.1007/s11910-004-0015-7. Curr Neurol Neurosci Rep. 2004. PMID: 14683632 Review.

6

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C. Traverso M, et al. Among authors: minetti c. Lab Invest. 2008 Mar;88(3):275-83. doi: 10.1038/labinvest.3700713. Epub 2008 Feb 4. Lab Invest. 2008. PMID: 18253147 Free article.

7

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Gazzerro E, et al. Among authors: minetti c. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8. Eur J Hum Genet. 2010. PMID: 19584897 Free PMC article. Review.

8

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Minetti C, et al. Nat Genet. 1998 Apr;18(4):365-8. doi: 10.1038/ng0498-365. Nat Genet. 1998. PMID: 9537420

9

Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome.

Sotgia F, Minetti C, Lisanti MP. Sotgia F, et al. Among authors: minetti c. FEBS Lett. 1999 Jun 11;452(3):177-80. doi: 10.1016/s0014-5793(99)00658-4. FEBS Lett. 1999. PMID: 10386585 Free article.

10

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.

Repetto S, Bado M, Broda P, Lucania G, Masetti E, Sotgia F, Carbone I, Pavan A, Bonilla E, Cordone G, Lisanti MP, Minetti C. Repetto S, et al. Among authors: minetti c. Biochem Biophys Res Commun. 1999 Aug 11;261(3):547-50. doi: 10.1006/bbrc.1999.1055. Biochem Biophys Res Commun. 1999. PMID: 10441463

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