De Fusco M - Search Results

1

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

2

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.

Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Marconi R, et al. Among authors: de fusco m, de michele g. Ann Neurol. 2003 Mar;53(3):376-81. doi: 10.1002/ana.10464. Ann Neurol. 2003. PMID: 12601705

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

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

5

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. 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.

6

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

Lüthy K, Mei D, Fischer B, De Fusco M, Swerts J, Paesmans J, Parrini E, Lubarr N, Meijer IA, Mackenzie KM, Lee WT, Cittaro D, Aridon P, Schoovaerts N, Versées W, Verstreken P, Casari G, Guerrini R. Lüthy K, et al. Among authors: de fusco m. Brain. 2019 Aug 1;142(8):2319-2335. doi: 10.1093/brain/awz175. Brain. 2019. PMID: 31257402

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

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G. Ahmad W, et al. Among authors: de fusco m. Am J Med Genet. 2001 Apr 15;100(1):62-5. doi: 10.1002/1096-8628(20010415)100:1<62::aid-ajmg1190>3.0.co;2-h. Am J Med Genet. 2001. PMID: 11337751

10

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

Striano P, Chifari R, Striano S, de Fusco M, Elia M, Guerrini R, Casari G, Canevini MP. Striano P, et al. Among authors: de fusco m. Epilepsia. 2004 Feb;45(2):190-2. doi: 10.1111/j.0013-9580.2004.39903.x. Epilepsia. 2004. PMID: 14738428 Free article.

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