Conforti FL - Search Results

1

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A. Conforti FL, et al. Neuromuscul Disord. 2008 Jan;18(1):68-70. doi: 10.1016/j.nmd.2007.07.003. Epub 2007 Aug 20. Neuromuscul Disord. 2008. PMID: 17703939

2

Nonisotopic method for accurate detection of (CAG)n repeats causing Huntington disease.

Muglia M, Leone O, Annesi G, Gabriele AL, Imbrogno E, Grandinetti C, Conforti FL, Naso F, Brancati C. Muglia M, et al. Among authors: conforti fl. Clin Chem. 1996 Oct;42(10):1601-3. Clin Chem. 1996. PMID: 8855141

3

A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene.

Annesi G, Muglia M, Conforti FL, Leone O, Grandinetti C, Imbrogno E, Gabriele AL, Naso F, Brancati C. Annesi G, et al. Among authors: conforti fl. Hum Hered. 1997 Jan-Feb;47(1):47-51. doi: 10.1159/000154389. Hum Hered. 1997. PMID: 9017980

4

Analysis of the (CAG)n repeat at the IT15 locus in a population from Calabria (southern Italy).

Leone O, Muglia M, Gabriele AL, Annesi G, Conforti FL, Imbrogno E, Imbrogno L, Brancati C. Leone O, et al. Among authors: conforti fl. Hum Biol. 1997 Oct;69(5):653-62. Hum Biol. 1997. PMID: 9299885 Clinical Trial.

5

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

Gambardella A, Annesi G, Bono F, Spadafora P, Valentino P, Pasqua AA, Mazzei R, Montesanti R, Conforti FL, Oliveri RL, Zappia M, Aguglia U, Quattrone A. Gambardella A, et al. Among authors: conforti fl. J Neurol. 1998 Oct;245(10):647-52. doi: 10.1007/s004150050261. J Neurol. 1998. PMID: 9776463

6

Hyperekplexia in a patient with a brainstem vascular anomaly.

Gambardella A, Valentino P, Annesi G, Oliveri RL, Bono F, Mazzei RL, Conforti FL, Aguglia U, Zappia M, Pardatscher K, Quattrone A. Gambardella A, et al. Among authors: conforti fl. Acta Neurol Scand. 1999 Apr;99(4):255-9. doi: 10.1111/j.1600-0404.1999.tb07358.x. Acta Neurol Scand. 1999. PMID: 10225359

7

Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.

Muglia M, Toscano A, Gabriele AL, Magariello A, Patitucci A, Conforti FL, Mazzei R, Rodolico C, Gambardella A, Quattrone A. Muglia M, et al. Among authors: conforti fl. Hum Mutat. 2000 Mar;15(3):299. doi: 10.1002/(SICI)1098-1004(200003)15:3<299::AID-HUMU24>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10679959 No abstract available.

8

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Bolino A, et al. Among authors: conforti fl. Nat Genet. 2000 May;25(1):17-9. doi: 10.1038/75542. Nat Genet. 2000. PMID: 10802647

9

Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.

Muglia M, Zappia M, Timmerman V, Valentino P, Gabriele AL, Conforti FL, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, Quattrone A. Muglia M, et al. Among authors: conforti fl. Neurology. 2001 Jan 9;56(1):100-3. doi: 10.1212/wnl.56.1.100. Neurology. 2001. PMID: 11148244

10

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

Gambardella A, Muglia M, Labate A, Magariello A, Gabriele AL, Mazzei R, Pirritano D, Conforti FL, Patitucci A, Valentino P, Zappia M, Quattrone A. Gambardella A, et al. Among authors: conforti fl. Neurology. 2001 Aug 28;57(4):708-11. doi: 10.1212/wnl.57.4.708. Neurology. 2001. PMID: 11524486

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