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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
2012-01-01 Majounie, E; Renton, Ae; Mok, K; Dopper, Eg; Waite, A; Rollinson, S; Chiò, A; Restagno, G; Nicolaou, N; Simon Sanchez, J; van Swieten, Jc; Abramzon, Y; Johnson, Jo; Sendtner, M; Pamphlett, R; Orrell, Rw; Mead, S; Sidle, Kc; Houlden, H; Rohrer, Jd; Morrison, Ke; Pall, H; Talbot, K; Ansorge, O; Chromosome, 9 ALS/FTD Consortium; French research network on, Ftld/ftld/als; Italsgen, Consortium; Hernandez, Dg; Arepalli, S; Sabatelli, M; Mora, G; Corbo, M; Giannini, F; Calvo, A; Englund, E; Borghero, G; Floris, Gl; Remes, Am; Laaksovirta, H; Mccluskey, L; Trojanowski, Jq; Van Deerlin, Vm; Schellenberg, Gd; Nalls, Ma; Drory, Ve; Lu, Cs; Yeh, Th; Ishiura, H; Takahashi, Y; Tsuji, S; Le Ber, I; Brice, A; Drepper, C; Williams, N; Kirby, J; Shaw, P; Hardy, J; Tienari, Pj; Heutink, P; Morris, Hr; Pickering Brown, S; Traynor, Bj; Adamson, G; Bayer, Aj; Beck, J; Callister, Jb; Blake, Dj; Blumen, Sc; Collinge, J; Dunckley, T; Ealing, J; East, S; Elman, L; Gerhard, A; Guerreiro, Rj; Gwinn, K; Halliwell, N; Hamdalla, Hh; Hewitt, C; Ince, P; Jablonka, S; James, C; Kent, L; Knock, Jc; Lynch, T; Mahoney, C; Mann, D; Neal, J; Norris, D; O'Dowd, S; Richardson, A; Rossor, M; Rothstein, J; Scholz, Sw; Snowden, J; Stephan, Da; Toulson, G; Turner, Mr; Warren, Jd; Young, K; Weng, Yh; Kuo, Hc; Lai, Sc; Huang, Cl; Camuzat, A; Entraingues, L; Guillot, Noël; Verpillat, P; Blanc, F; Camu, W; Clerget Darpoux, F; Corcia, P; Couratier, P; Didic, M; Dubois, B; Duyckaerts, C; Guedj, E; Golfier, V; Habert, Mo; Hannequin, D; Lacomblez, L; Meininger, V; Salachas, F; Levy, R; Michel, Bf; Pasquier, F; Puel, M; Thomas Anterion, C; Sellal, F; Vercelletto, M; Moglia, C; Cammarosano, S; Canosa, A; Gallo, S; Brunetti, M; Ossola, I; Marinou, K; Papetti, L; Pisano, F; Pinter, Gl; Conte, A; Luigetti, M; Zollino, M; Lattante, S; Marangi, G; la Bella, V; Spataro, R; Colletti, T; Battistini, S; Ricci, PIER CARLO; Caponnetto, C; Mancardi, G; Mandich, P; Salvi, F; Bartolomei, I; Mandrioli, J; Sola, P; Lunetta, C; Penco, S; Monsurrò, Mr; Tedeschi, G; Conforti, Fl; Gambardella, A; Quattrone, A; Volanti, P; Floris, G; Cannas, A; Piras, V; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Murru, Mr; Pugliatti, M; Parish, Ld; Sotgiu, A; Solinas, G; Ulgheri, L; Ticca, A; Simone, I; Logroscino, G.
Fronto-temporal dementia in three cases of familial amyotrophic lateral sclerosis with TARDBP A382T mutation
2010-01-01 Ilardi, A; Chio, A; Calvo, A; Moglia, C; Giacone, S; Restagno, G; Balma, M; Canosa, A; Gallo, S; Ossola, I; Brunetti, M; Montuschi, A; Cistaro, A; Ticca, A; Traynor, Bj; Marrosu, MARIA GIOVANNA; Borghero, G.
Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
2012-01-01 Floris, G; Borghero, G; Cannas, A; Di Stefano, F; Costantino, E; Murru, Mr; Brunetti, M; Restagno, G; Traynor, Bj; Marrosu, MARIA GIOVANNA; Chiò, A; Marrosu, Francesco
Gait initiation evaluation in multiple sclerosis
2013-01-01 Coghe, Giancarlo; Pau, Massimiliano; Galli, M; Frau, Jessica; Lorefice, Lorena; Fenu, N; Melis, M; Marrosu, MARIA GIOVANNA; Cocco, Eleonora
Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease
2012-01-01 Solla, Paolo; Cannas, A; Ibba, Fc; Loi, F; Corona, M; Orofino, G; Marrosu, MARIA GIOVANNA; Marrosu, Francesco
Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: Importance of G2019S and R1441C mutations in sporadic Parkinson’s disease patients
2009-01-01 Floris, G; Cannas, A; Solla, Paolo; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Rolesu, M; Cuccu, S; Sardu, Claudia; Marrosu, Francesco; Marrosu, MARIA GIOVANNA
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations
2013-01-01 Carboni, Nicola; Mateddu, A; Marrosu, G; Cocco, Eleonora; Marrosu, MARIA GIOVANNA
Genetic architecture of ALS in Sardinia
2014-01-01 Borghero, G; Pugliatti, M; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Occhineri, P; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Pliner, Ha; Renton, Ae; Nalls, Ma; Traynor, Bj; Restagno, G; Chiò, A.
Genetic factors and the founder effect explain familial MS in Sardinia
2002-01-01 Marrosu, MARIA GIOVANNA; Lai, M; Cocco, Eleonora; Loi, V; Spinicci, G; Pischedda, Mp; Massole, S; Marrosu, G; Contu, Paolo
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia
2008-01-01 Pitzalis, M; Zavattari, Patrizia; Murru, Raffaele; Deidda, E; Zoledziewska, M; Murru, D; Moi, L; Motzo, C; Orrù, V; Costa, G; Solla, E; Fadda, E; Schirru, L; Melis, Mc; Lai, M; Mancosu, C; Tranquilli, Stefania; Cuccu, S; Rolesu, M; Secci, Ma; Corongiu, D; Contu, D; Lampis, R; Nucaro, A; Pala, G; Pacifico, A; Maioli, M; Frongia, P; Chessa, M; Ricciardi, R; Lostia, S; Marinaro, Am; Milia, Af; Landis, N; Zedda, Ma; Whalen, M; Santoni, F; Marrosu, MARIA GIOVANNA; Devoto, M; Cucca, F.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study | 1-gen-2012 | Majounie, E; Renton, Ae; Mok, K; Dopper, Eg; Waite, A; Rollinson, S; Chiò, A; Restagno, G; Nicolaou, N; Simon Sanchez, J; van Swieten, Jc; Abramzon, Y; Johnson, Jo; Sendtner, M; Pamphlett, R; Orrell, Rw; Mead, S; Sidle, Kc; Houlden, H; Rohrer, Jd; Morrison, Ke; Pall, H; Talbot, K; Ansorge, O; Chromosome, 9 ALS/FTD Consortium; French research network on, Ftld/ftld/als; Italsgen, Consortium; Hernandez, Dg; Arepalli, S; Sabatelli, M; Mora, G; Corbo, M; Giannini, F; Calvo, A; Englund, E; Borghero, G; Floris, Gl; Remes, Am; Laaksovirta, H; Mccluskey, L; Trojanowski, Jq; Van Deerlin, Vm; Schellenberg, Gd; Nalls, Ma; Drory, Ve; Lu, Cs; Yeh, Th; Ishiura, H; Takahashi, Y; Tsuji, S; Le Ber, I; Brice, A; Drepper, C; Williams, N; Kirby, J; Shaw, P; Hardy, J; Tienari, Pj; Heutink, P; Morris, Hr; Pickering Brown, S; Traynor, Bj; Adamson, G; Bayer, Aj; Beck, J; Callister, Jb; Blake, Dj; Blumen, Sc; Collinge, J; Dunckley, T; Ealing, J; East, S; Elman, L; Gerhard, A; Guerreiro, Rj; Gwinn, K; Halliwell, N; Hamdalla, Hh; Hewitt, C; Ince, P; Jablonka, S; James, C; Kent, L; Knock, Jc; Lynch, T; Mahoney, C; Mann, D; Neal, J; Norris, D; O'Dowd, S; Richardson, A; Rossor, M; Rothstein, J; Scholz, Sw; Snowden, J; Stephan, Da; Toulson, G; Turner, Mr; Warren, Jd; Young, K; Weng, Yh; Kuo, Hc; Lai, Sc; Huang, Cl; Camuzat, A; Entraingues, L; Guillot, Noël; Verpillat, P; Blanc, F; Camu, W; Clerget Darpoux, F; Corcia, P; Couratier, P; Didic, M; Dubois, B; Duyckaerts, C; Guedj, E; Golfier, V; Habert, Mo; Hannequin, D; Lacomblez, L; Meininger, V; Salachas, F; Levy, R; Michel, Bf; Pasquier, F; Puel, M; Thomas Anterion, C; Sellal, F; Vercelletto, M; Moglia, C; Cammarosano, S; Canosa, A; Gallo, S; Brunetti, M; Ossola, I; Marinou, K; Papetti, L; Pisano, F; Pinter, Gl; Conte, A; Luigetti, M; Zollino, M; Lattante, S; Marangi, G; la Bella, V; Spataro, R; Colletti, T; Battistini, S; Ricci, PIER CARLO; Caponnetto, C; Mancardi, G; Mandich, P; Salvi, F; Bartolomei, I; Mandrioli, J; Sola, P; Lunetta, C; Penco, S; Monsurrò, Mr; Tedeschi, G; Conforti, Fl; Gambardella, A; Quattrone, A; Volanti, P; Floris, G; Cannas, A; Piras, V; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Murru, Mr; Pugliatti, M; Parish, Ld; Sotgiu, A; Solinas, G; Ulgheri, L; Ticca, A; Simone, I; Logroscino, G. | LANCET NEUROLOGY | - |
| Fronto-temporal dementia in three cases of familial amyotrophic lateral sclerosis with TARDBP A382T mutation | 1-gen-2010 | Ilardi, A; Chio, A; Calvo, A; Moglia, C; Giacone, S; Restagno, G; Balma, M; Canosa, A; Gallo, S; Ossola, I; Brunetti, M; Montuschi, A; Cistaro, A; Ticca, A; Traynor, Bj; Marrosu, MARIA GIOVANNA; Borghero, G. | JOURNAL OF NEUROLOGY | - |
| Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? | 1-gen-2012 | Floris, G; Borghero, G; Cannas, A; Di Stefano, F; Costantino, E; Murru, Mr; Brunetti, M; Restagno, G; Traynor, Bj; Marrosu, MARIA GIOVANNA; Chiò, A; Marrosu, Francesco | JOURNAL OF NEUROLOGY | - |
| Gait initiation evaluation in multiple sclerosis | 1-gen-2013 | Coghe, Giancarlo; Pau, Massimiliano; Galli, M; Frau, Jessica; Lorefice, Lorena; Fenu, N; Melis, M; Marrosu, MARIA GIOVANNA; Cocco, Eleonora | MULTIPLE SCLEROSIS | - |
| Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease | 1-gen-2012 | Solla, Paolo; Cannas, A; Ibba, Fc; Loi, F; Corona, M; Orofino, G; Marrosu, MARIA GIOVANNA; Marrosu, Francesco | JOURNAL OF THE NEUROLOGICAL SCIENCES | - |
| Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: Importance of G2019S and R1441C mutations in sporadic Parkinson’s disease patients | 1-gen-2009 | Floris, G; Cannas, A; Solla, Paolo; Murru, Mr; Tranquilli, Stefania; Corongiu, D; Rolesu, M; Cuccu, S; Sardu, Claudia; Marrosu, Francesco; Marrosu, MARIA GIOVANNA | PARKINSONISM & RELATED DISORDERS | - |
| Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations | 1-gen-2013 | Carboni, Nicola; Mateddu, A; Marrosu, G; Cocco, Eleonora; Marrosu, MARIA GIOVANNA | MUSCLE & NERVE | - |
| Genetic architecture of ALS in Sardinia | 1-gen-2014 | Borghero, G; Pugliatti, M; Marrosu, Francesco; Marrosu, MARIA GIOVANNA; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Occhineri, P; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Pliner, Ha; Renton, Ae; Nalls, Ma; Traynor, Bj; Restagno, G; Chiò, A. | NEUROBIOLOGY OF AGING | - |
| Genetic factors and the founder effect explain familial MS in Sardinia | 1-gen-2002 | Marrosu, MARIA GIOVANNA; Lai, M; Cocco, Eleonora; Loi, V; Spinicci, G; Pischedda, Mp; Massole, S; Marrosu, G; Contu, Paolo | NEUROLOGY | - |
| Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia | 1-gen-2008 | Pitzalis, M; Zavattari, Patrizia; Murru, Raffaele; Deidda, E; Zoledziewska, M; Murru, D; Moi, L; Motzo, C; Orrù, V; Costa, G; Solla, E; Fadda, E; Schirru, L; Melis, Mc; Lai, M; Mancosu, C; Tranquilli, Stefania; Cuccu, S; Rolesu, M; Secci, Ma; Corongiu, D; Contu, D; Lampis, R; Nucaro, A; Pala, G; Pacifico, A; Maioli, M; Frongia, P; Chessa, M; Ricciardi, R; Lostia, S; Marinaro, Am; Milia, Af; Landis, N; Zedda, Ma; Whalen, M; Santoni, F; Marrosu, MARIA GIOVANNA; Devoto, M; Cucca, F. | BMC MEDICAL GENETICS | - |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 271
- 1 Contributo su Rivista::1.1 Arti... 256
- 1 Contributo su Rivista::1.5 Abst... 15
Data di pubblicazione
- 2020 - 2022 7
- 2010 - 2019 150
- 2000 - 2009 81
- 1990 - 1999 25
- 1980 - 1989 7
- 1979 - 1979 1
Rivista
- MULTIPLE SCLEROSIS 24
- JOURNAL OF NEUROLOGY 21
- NEUROLOGICAL SCIENCES 21
- NEUROLOGY 17
- JOURNAL OF NEUROIMMUNOLOGY 10
- MULTIPLE SCLEROSIS AND RELATED DI... 10
- PLOS ONE 10
- MUSCLE & NERVE 9
- JOURNAL OF THE NEUROLOGICAL SCIENCES 8
- NEUROBIOLOGY OF AGING 8
Keyword
- Multiple sclerosis 39
- Neurology (clinical) 35
- Humans 33
- Male 25
- Female 24
- Adult 20
- Italy 14
- Medicine (all) 13
- Neurology 13
- Middle aged 12
Lingua
- eng 191
- ita 2
Accesso al fulltext
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- reserved 59
- open 12