CONFORTI, Francesca Luisa
CONFORTI, Francesca Luisa
Dipartimento di Farmacia e Scienze della Salute e della Nutrizione
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2
2007-01-01 Al, Gabriele; M, Ruggeri; C, Nucifora; A, Patitucci; T, Sprovieri; A, Magariello; R, Mazzei; Conforti, F. L.; C, Ungaro; G Di, Palma; M, Muglia; A, Quattrone.
A Diagnostic Gene-Expression Signature in Fibroblasts of Amyotrophic Lateral Sclerosis
2023-01-01 Morello, G.; La Cognata, V.; Guarnaccia, M.; La Bella, V.; Conforti, F. L.; Cavallaro, S.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
2014-01-01 Fogh, I; Ratti, A; Gellera, C; Lin, K; Tiloca, C; Moskvina, V; Corrado, L; Sorarù, G; Cereda, C; Corti, S; Gentilini, D; Calini, D; Castellotti, B; Mazzini, L; Querin, G; Gagliardi, S; Del Bo, R; Conforti, F. L.; Siciliano, G; Inghilleri, M; Saccà, F; Bongioanni, P; Penco, S; Corbo, M; Sorbi, S; Filosto, M; Ferlini, A; Di Blasio, Am; Signorini, S; Shatunov, A; Jones, A; Shaw, Pj; Morrison, Ke; Farmer, Ae; Van Damme, P; Robberecht, W; Chiò, A; Traynor, Bj; Sendtner, M; Melki, J; Meininger, V; Hardiman, O; Andersen, Pm; Leigh, Np; Glass, Jd; Overste, D; Diekstra, Fp; Veldink, Jh; van Es, Ma; Shaw, Ce; Weale, Me; Lewis, Cm; Williams, J; Brown, Rh; Landers, Je; Ticozzi, N; Ceroni, M; Pegoraro, E; Comi, Gp; D'Alfonso, S; van den Berg, Lh; Taroni, F; Al-Chalabi, A; Powell, J; Silani, V; SLAGEN Consortium and, Collaborators.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
2011-01-01 Renton, Ae; Majounie, E; Waite, A; Simón-Sánchez, J; Rollinson, S; Gibbs, Jr; Schymick, Jc; Laaksovirta, H; van Swieten, Jc; Myllykangas, L; Kalimo, H; Paetau, A; Abramzon, Y; Remes, Am; Kaganovich, A; Scholz, Sw; Duckworth, J; Ding, J; Harmer, Dw; Hernandez, Dg; Johnson, Jo; Mok, K; Ryten, M; Trabzuni, D; Guerreiro, Rj; Orrell, Rw; Neal, J; Murray, A; Pearson, J; Jansen, Ie; Sondervan, D; Seelaar, H; Blake, D; Young, K; Halliwell, N; Callister, Jb; Toulson, G; Richardson, A; Gerhard, A; Snowden, J; Mann, D; Neary, D; Nalls, Ma; Peuralinna, T; Jansson, L; Isoviita, Vm; Kaivorinne, Al; Hölttä-Vuori, M; Ikonen, E; Sulkava, R; Benatar, M; Wuu, J; Chiò, A; Restagno, G; Borghero, G; Sabatelli, M; Italsgen, Consortium; Conforti, F. L.; Heckerman, D; Rogaeva, E; Zinman, L; Rothstein, Jd; Sendtner, M; Drepper, C; Eichler, Ee; Alkan, C; Abdullaev, Z; Pack, Sd; Dutra, A; Pak, E; Hardy, J; Singleton, A; Williams, Nm; Heutink, P; Pickering-Brown, S; Morris, Hr; Tienari, Pj; Traynor, Bj.
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
2002-01-01 Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, F. L.; Mazzei, R; Caracciolo, M; Casari, G; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
2001-01-01 Muglia, M.; Magariello, A.; Nicoletti, G.; Patitucci, A.; Gabriele, Al.; Conforti, F. L.; Mazzei, R.; Caracciolo, M.; Casari, G.; Ardito, B.; Lastilla, M.; Mangone, L.; Gambardella, A.; Quattrone, A.
A large Italian family with R521C mutation in the FUS/TLS gene
2012-01-01 Rosanna, Tortelli; Conforti, F. L.; R., Capozzo; R., Cortese; E., D'Errico; R., Mazzei; C., Ungaro; L., Citrigno; G., Logroscino; I. L., Simone
A mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis
2007-01-01 R, Mazzei; M, Liguori; Conforti, F. L.; C, Ungaro; M, Muglia; T, Sprovieri; A, Patitucci; A, Magariello; Al, Gabriele; L, Citrigno; L, Crescibene; A, Quattrone.
A mutational screening of the eIF2B5 gene in sib pairs affected by Multiple Sclerosis.
2007-01-01 R., Mazzei; M, Liguori; Conforti, F. L.; C, Ungaro; M, Muglia; T, Sprovieri; A, Patitucci; A, Magariello; Al, Gabriele; L, Citrigno; L, Crescibene; A, Quattrone.
A new non-isotopic method for accurate detection of (CAG)n repeats causing Huntington's disease
1996-01-01 Muglia, M; Leone, O; Annesi, G; Gabriele, A. L.; Imbrogno, E; Grandinetti, C; Conforti, F. L.; Naso, F; Brancati, C
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers
2003-01-01 A. Patitucci, A.; Mazzei, R.; Conforti, F. L.; Magariello, A.; Sprovieri, T.; Gabriele, Al.; Peluso, G.; Di Palma, G.; and Muglia, M.
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)
2004-01-01 Conforti, F. L.; M., Muglia; R., Mazzei; A., Patitucci; P., Valentino; A., Magariello; T., Sprovieri; F., Bono; C., Bergmann; Gabriele, A. L.; P., Peluso; R., Nisticò; J., Senderek; AND A., Quattrone
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
2008-01-01 Conforti, F. L.; 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; Monsurro, Mr; Muglia, M; Quattrone, A
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy
2007-01-01 T., Sprovieri; M., Fusaro; C., Ungaro; R., Mazzei; A., Magariello; A., Patitucci; L., Citrigno; V., La Bella; A., Gabriele; M., Muglia; Conforti, F. L.
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
2014-01-01 Muglia, M; Citrigno, L; D'Errico, E; Magariello, A; Distaso, E; Gasparro, Aa; Scarafino, A; Patitucci, A; Conforti, F. L.; Mazzei, R; Cortese, R; Tortelli, R; Simone, Il.
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter
2007-01-01 o A, Magariello; L, Citrigno; L, Passamonti; A, Patitucci; Conforti, F. L.; Al, Gabriele; R, Mazzei; T, Sprovieri; C, Ungaro; M, Bellesi; M, Muglia.
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2
2008-01-01 Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, F. L.; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia
2012-01-01 A., Magariello; C., Tortorella; A., Patitucci; R., Tortelli; M., Liguori; R., Mazzei; Conforti, F. L.; L., Citrigno; C., Ungaro; Simone, I. L.; M., Muglia
A novel missense mutationof the NF2 gene in a severely affected boy and his healthy father
2007-01-01 o AL, Gabriele; M, Ruggeri; C, Nucifora; A, Patitucci; T, Sprovieri; A, Magariello; R, Mazzei; Conforti, F. L.; C, Ungaro; M, Muglia; A, Quattrone.
A Novel Mutation in CX32 Identified in a Patient with Demyelinating Sensory-Motor Neuropathy and Secondary Axonopathy
2011-01-01 Patitucci, ; M., Muglia; M., Liguori; C., Tortorella; A., Magariello; Conforti, F. L.; R., Mazzei; W., Sproviero; L., Citrigno; A., Morabito; C., Ungaro; A., Gambardella.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 | 1-gen-2007 | Al, Gabriele; M, Ruggeri; C, Nucifora; A, Patitucci; T, Sprovieri; A, Magariello; R, Mazzei; Conforti, F. L.; C, Ungaro; G Di, Palma; M, Muglia; A, Quattrone. | |
A Diagnostic Gene-Expression Signature in Fibroblasts of Amyotrophic Lateral Sclerosis | 1-gen-2023 | Morello, G.; La Cognata, V.; Guarnaccia, M.; La Bella, V.; Conforti, F. L.; Cavallaro, S. | |
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis | 1-gen-2014 | Fogh, I; Ratti, A; Gellera, C; Lin, K; Tiloca, C; Moskvina, V; Corrado, L; Sorarù, G; Cereda, C; Corti, S; Gentilini, D; Calini, D; Castellotti, B; Mazzini, L; Querin, G; Gagliardi, S; Del Bo, R; Conforti, F. L.; Siciliano, G; Inghilleri, M; Saccà, F; Bongioanni, P; Penco, S; Corbo, M; Sorbi, S; Filosto, M; Ferlini, A; Di Blasio, Am; Signorini, S; Shatunov, A; Jones, A; Shaw, Pj; Morrison, Ke; Farmer, Ae; Van Damme, P; Robberecht, W; Chiò, A; Traynor, Bj; Sendtner, M; Melki, J; Meininger, V; Hardiman, O; Andersen, Pm; Leigh, Np; Glass, Jd; Overste, D; Diekstra, Fp; Veldink, Jh; van Es, Ma; Shaw, Ce; Weale, Me; Lewis, Cm; Williams, J; Brown, Rh; Landers, Je; Ticozzi, N; Ceroni, M; Pegoraro, E; Comi, Gp; D'Alfonso, S; van den Berg, Lh; Taroni, F; Al-Chalabi, A; Powell, J; Silani, V; SLAGEN Consortium and, Collaborators. | |
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. | 1-gen-2011 | Renton, Ae; Majounie, E; Waite, A; Simón-Sánchez, J; Rollinson, S; Gibbs, Jr; Schymick, Jc; Laaksovirta, H; van Swieten, Jc; Myllykangas, L; Kalimo, H; Paetau, A; Abramzon, Y; Remes, Am; Kaganovich, A; Scholz, Sw; Duckworth, J; Ding, J; Harmer, Dw; Hernandez, Dg; Johnson, Jo; Mok, K; Ryten, M; Trabzuni, D; Guerreiro, Rj; Orrell, Rw; Neal, J; Murray, A; Pearson, J; Jansen, Ie; Sondervan, D; Seelaar, H; Blake, D; Young, K; Halliwell, N; Callister, Jb; Toulson, G; Richardson, A; Gerhard, A; Snowden, J; Mann, D; Neary, D; Nalls, Ma; Peuralinna, T; Jansson, L; Isoviita, Vm; Kaivorinne, Al; Hölttä-Vuori, M; Ikonen, E; Sulkava, R; Benatar, M; Wuu, J; Chiò, A; Restagno, G; Borghero, G; Sabatelli, M; Italsgen, Consortium; Conforti, F. L.; Heckerman, D; Rogaeva, E; Zinman, L; Rothstein, Jd; Sendtner, M; Drepper, C; Eichler, Ee; Alkan, C; Abdullaev, Z; Pack, Sd; Dutra, A; Pak, E; Hardy, J; Singleton, A; Williams, Nm; Heutink, P; Pickering-Brown, S; Morris, Hr; Tienari, Pj; Traynor, Bj. | |
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 | 1-gen-2002 | Muglia, M; Magariello, A; Nicoletti, G; Patitucci, A; Gabriele, Al; Conforti, F. L.; Mazzei, R; Caracciolo, M; Casari, G; Ardito, B; Lastilla, M; Gambardella, A; Quattrone, A | |
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 | 1-gen-2001 | Muglia, M.; Magariello, A.; Nicoletti, G.; Patitucci, A.; Gabriele, Al.; Conforti, F. L.; Mazzei, R.; Caracciolo, M.; Casari, G.; Ardito, B.; Lastilla, M.; Mangone, L.; Gambardella, A.; Quattrone, A. | |
A large Italian family with R521C mutation in the FUS/TLS gene | 1-gen-2012 | Rosanna, Tortelli; Conforti, F. L.; R., Capozzo; R., Cortese; E., D'Errico; R., Mazzei; C., Ungaro; L., Citrigno; G., Logroscino; I. L., Simone | |
A mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis | 1-gen-2007 | R, Mazzei; M, Liguori; Conforti, F. L.; C, Ungaro; M, Muglia; T, Sprovieri; A, Patitucci; A, Magariello; Al, Gabriele; L, Citrigno; L, Crescibene; A, Quattrone. | |
A mutational screening of the eIF2B5 gene in sib pairs affected by Multiple Sclerosis. | 1-gen-2007 | R., Mazzei; M, Liguori; Conforti, F. L.; C, Ungaro; M, Muglia; T, Sprovieri; A, Patitucci; A, Magariello; Al, Gabriele; L, Citrigno; L, Crescibene; A, Quattrone. | |
A new non-isotopic method for accurate detection of (CAG)n repeats causing Huntington's disease | 1-gen-1996 | Muglia, M; Leone, O; Annesi, G; Gabriele, A. L.; Imbrogno, E; Grandinetti, C; Conforti, F. L.; Naso, F; Brancati, C | |
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers | 1-gen-2003 | A. Patitucci, A.; Mazzei, R.; Conforti, F. L.; Magariello, A.; Sprovieri, T.; Gabriele, Al.; Peluso, G.; Di Palma, G.; and Muglia, M. | |
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) | 1-gen-2004 | Conforti, F. L.; M., Muglia; R., Mazzei; A., Patitucci; P., Valentino; A., Magariello; T., Sprovieri; F., Bono; C., Bergmann; Gabriele, A. L.; P., Peluso; R., Nisticò; J., Senderek; AND A., Quattrone | |
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy | 1-gen-2008 | Conforti, F. L.; 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; Monsurro, Mr; Muglia, M; Quattrone, A | |
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy | 1-gen-2007 | T., Sprovieri; M., Fusaro; C., Ungaro; R., Mazzei; A., Magariello; A., Patitucci; L., Citrigno; V., La Bella; A., Gabriele; M., Muglia; Conforti, F. L. | |
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness | 1-gen-2014 | Muglia, M; Citrigno, L; D'Errico, E; Magariello, A; Distaso, E; Gasparro, Aa; Scarafino, A; Patitucci, A; Conforti, F. L.; Mazzei, R; Cortese, R; Tortelli, R; Simone, Il. | |
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter | 1-gen-2007 | o A, Magariello; L, Citrigno; L, Passamonti; A, Patitucci; Conforti, F. L.; Al, Gabriele; R, Mazzei; T, Sprovieri; C, Ungaro; M, Bellesi; M, Muglia. | |
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 | 1-gen-2008 | Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, F. L.; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A | |
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia | 1-gen-2012 | A., Magariello; C., Tortorella; A., Patitucci; R., Tortelli; M., Liguori; R., Mazzei; Conforti, F. L.; L., Citrigno; C., Ungaro; Simone, I. L.; M., Muglia | |
A novel missense mutationof the NF2 gene in a severely affected boy and his healthy father | 1-gen-2007 | o AL, Gabriele; M, Ruggeri; C, Nucifora; A, Patitucci; T, Sprovieri; A, Magariello; R, Mazzei; Conforti, F. L.; C, Ungaro; M, Muglia; A, Quattrone. | |
A Novel Mutation in CX32 Identified in a Patient with Demyelinating Sensory-Motor Neuropathy and Secondary Axonopathy | 1-gen-2011 | Patitucci, ; M., Muglia; M., Liguori; C., Tortorella; A., Magariello; Conforti, F. L.; R., Mazzei; W., Sproviero; L., Citrigno; A., Morabito; C., Ungaro; A., Gambardella. |