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121 results

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Page 1
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A. Muglia M, et al. Among authors: conforti fl. Neurogenetics. 2004 Feb;5(1):49-54. doi: 10.1007/s10048-003-0167-7. Epub 2003 Dec 5. Neurogenetics. 2004. PMID: 14658060
Gene conversion events in adult-onset spinal muscular atrophy.
Mazzei R, Gambardella A, Conforti FL, Magariello A, Patitucci A, Gabriele AL, Sprovieri T, Labate A, Valentino P, Bono F, Bonavita S, Zappia M, Muglia M, Quattrone A. Mazzei R, et al. Among authors: conforti fl. Acta Neurol Scand. 2004 Feb;109(2):151-4. doi: 10.1034/j.1600-0404.2003.00181.x. Acta Neurol Scand. 2004. PMID: 14705979
Comparison of different techniques for detecting 17p12 duplication in CMT1A.
Patitucci A, Muglia M, Magariello A, Gabriele AL, Peluso G, Sprovieri T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F, Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A. Patitucci A, et al. Among authors: conforti fl. Neuromuscul Disord. 2005 Jul;15(7):488-92. doi: 10.1016/j.nmd.2005.04.006. Neuromuscul Disord. 2005. PMID: 15941660
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A. Magariello A, et al. Among authors: conforti fl. Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684598
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy.
Conforti FL, Sprovieri T, Mazzei R, Ungaro C, Tessitore A, Tedeschi G, Patitucci A, Magariello A, Gabriele A, Labella V, Simone IL, Majorana G, Monsurrò MR, Valentino P, Muglia M, Quattrone A. Conforti FL, et al. J Negat Results Biomed. 2006 May 29;5:7. doi: 10.1186/1477-5751-5-7. J Negat Results Biomed. 2006. PMID: 16729899 Free PMC article.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Patitucci A, Magariello A, Sprovieri T, Ungaro C, Gabriele AL, Muglia M, Del Giudice E, Quattrone A. Conforti FL, et al. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128467 No abstract available.
121 results