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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, Giovanna; La Cognata, Valentina; Guarnaccia, Maria; La Bella, Vincenzo; Conforti, Francesca Luisa; Cavallaro, Sebastiano
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 family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
2001-01-01 Mazzei, R.; Conforti, F. L.; Gambardella, A.; Magariello, A.; Patitucci, A.; Gabriele, Al.; Pirritano, D.; Labate, A.; Muglia, M.; Valentino, P.; Bono, F.; Zappia, M.; 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 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
| 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, Giovanna; La Cognata, Valentina; Guarnaccia, Maria; La Bella, Vincenzo; Conforti, Francesca Luisa; Cavallaro, Sebastiano | |
| 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 family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 | 1-gen-2001 | Mazzei, R.; Conforti, F. L.; Gambardella, A.; Magariello, A.; Patitucci, A.; Gabriele, Al.; Pirritano, D.; Labate, A.; Muglia, M.; Valentino, P.; Bono, F.; Zappia, M.; 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 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 |
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Opzioni
Scopri
Tipologia
- 1 Contributo su Rivista 307
- 1 Contributo su Rivista::1.5 Abst... 181
- 1 Contributo su Rivista::1.1 Arti... 125
- 1 Contributo su Rivista::1.2 Rece... 1
Data di pubblicazione
- 2020 - 2023 30
- 2010 - 2019 102
- 2000 - 2009 170
- 1996 - 1999 5
Rivista
- NEUROLOGICAL SCIENCES 78
- EUROPEAN JOURNAL OF HUMAN GENETICS 42
- AMERICAN JOURNAL OF HUMAN GENETICS 38
- NEUROBIOLOGY OF AGING 11
- NEUROLOGY 9
- HUMAN GENETICS 8
- EUROPEAN JOURNAL OF HUMAN GENETICS 5
- JOURNAL OF NEUROLOGY 5
- JOURNAL OF THE NEUROLOGICAL SCIENCES 5
- NEUROMUSCULAR DISORDERS 5
Keyword
- amyotrophic lateral sclerosis 7
- ALS 4
- Amyotrophic lateral sclerosis 4
- Neurology (clinical) 4
- Humans 3
- Mutation 3
- ALS-FTD spectrum 2
- Female 2
- genetics 2
- genomics 2
Lingua
- eng 84
- ita 2
Accesso al fulltext
- no fulltext 306
- open 1