De Fusco M - Search Results

1

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: de fusco m. Am J Hum Genet. 1996 Nov;59(5):1019-26. Am J Hum Genet. 1996. PMID: 8900229 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: de fusco m. Genomics. 1996 Aug 1;35(3):486-93. doi: 10.1006/geno.1996.0388. Genomics. 1996. PMID: 8812482

3

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: de fusco m. Am J Hum Genet. 1998 Jul;63(1):135-9. doi: 10.1086/301930. Am J Hum Genet. 1998. PMID: 9634528 Free PMC article.

4

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. Among authors: de fusco m, de michele g. Cell. 1998 Jun 12;93(6):973-83. doi: 10.1016/s0092-8674(00)81203-9. Cell. 1998. PMID: 9635427 Free article.

5

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: de fusco m. Circulation. 1998 Jun 23;97(24):2420-5. doi: 10.1161/01.cir.97.24.2420. Circulation. 1998. PMID: 9641694

6

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: de fusco m. 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

7

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Scolari F, et al. Among authors: de fusco m. Am J Hum Genet. 1999 Jun;64(6):1655-60. doi: 10.1086/302414. Am J Hum Genet. 1999. PMID: 10330352 Free PMC article.

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: de fusco m. 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

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. Nat Genet. 2000 Nov;26(3):275-6. doi: 10.1038/81566. Nat Genet. 2000. PMID: 11062464

10

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, Pasqua AA, Spadafora P, Oliveri RL, Valentino P, Zappia M, Ballabio A, Casari G, Quattrone A. Gambardella A, et al. Among authors: de fusco m. Neurology. 2000 Nov 28;55(10):1467-71. doi: 10.1212/wnl.55.10.1467. Neurology. 2000. PMID: 11094099

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

36 results

Search Page