Casari G - Search Results

1

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Among authors: casari g. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.

2

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

3

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.

4

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.

5

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.

6

A recessive variant of the Romano-Ward long-QT syndrome?

Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G. Priori SG, et al. Among authors: casari g. Circulation. 1998 Jun 23;97(24):2420-5. doi: 10.1161/01.cir.97.24.2420. Circulation. 1998. PMID: 9641694

7

Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Guerrini R, et al. Among authors: casari g. Ann Neurol. 1999 Mar;45(3):344-52. doi: 10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9. Ann Neurol. 1999. PMID: 10072049

8

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

9

Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.

Guerrini R, Parmeggiani L, Bonanni P, Carrozzo R, Casari G. Guerrini R, et al. Among authors: casari g. Neurology. 2000 Sep 12;55(5):738-9. doi: 10.1212/wnl.55.5.735-c. Neurology. 2000. PMID: 10980756 No abstract available.

10

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.

De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. De Fusco M, et al. Among authors: casari g. Nat Genet. 2000 Nov;26(3):275-6. doi: 10.1038/81566. Nat Genet. 2000. PMID: 11062464

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