Casari G - Search Results

1

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.

Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI. Ferreirinha F, et al. Among authors: casari g. J Clin Invest. 2004 Jan;113(2):231-42. doi: 10.1172/JCI20138. J Clin Invest. 2004. PMID: 14722615 Free PMC article.

2

The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A. Auricchio A, et al. Among authors: casari g. Am J Hum Genet. 1996 Apr;58(4):743-8. Am J Hum Genet. 1996. PMID: 8644737 Free PMC article.

3

Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).

Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Mastroianni N, et al. Among authors: casari g. Genomics. 1996 Aug 1;35(3):486-93. doi: 10.1006/geno.1996.0388. Genomics. 1996. PMID: 8812482

4

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.

Auricchio A, Casari G, Staiano A, Ballabio A. Auricchio A, et al. Among authors: casari g. Hum Mol Genet. 1996 Mar;5(3):351-4. doi: 10.1093/hmg/5.3.351. Hum Mol Genet. 1996. PMID: 8852659

5

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G. Mastroianni N, et al. Among authors: casari g. Am J Hum Genet. 1996 Nov;59(5):1019-26. Am J Hum Genet. 1996. PMID: 8900229 Free PMC article.

6

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. De Michele G, et al. Among authors: casari g. Am J Hum Genet. 1998 Jul;63(1):135-9. doi: 10.1086/301930. Am J Hum Genet. 1998. PMID: 9634528 Free PMC article.

7

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B, Ballabio A. Casari G, et al. Cell. 1998 Jun 12;93(6):973-83. doi: 10.1016/s0092-8674(00)81203-9. Cell. 1998. PMID: 9635427 Free article.

8

Identification and characterization of AFG3L2, a novel paraplegin-related gene.

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B. Banfi S, et al. Among authors: casari g. Genomics. 1999 Jul 1;59(1):51-8. doi: 10.1006/geno.1999.5818. Genomics. 1999. PMID: 10395799

9

Evidence for genetic heterogeneity in benign familial hematuria.

Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Piccini M, et al. Among authors: casari g. Am J Nephrol. 1999;19(4):464-7. doi: 10.1159/000013499. Am J Nephrol. 1999. PMID: 10460935

10

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G. Ahmad W, et al. Among authors: casari g. Eur J Hum Genet. 1999 Oct-Nov;7(7):828-32. doi: 10.1038/sj.ejhg.5200376. Eur J Hum Genet. 1999. PMID: 10573017

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