檢索結果 - Restagno, Gabriella

FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women 由 Dolfin, Elisabetta, Guani, Benedetta, Lussiana, Cristina, Mari, Caterina, Restagno, Gabriella, Revelli, Alberto

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Mutational analysis of the VCP gene in Parkinson’s Disease 由 Majounie, Elisa, Traynor, Bryan J., Chiò, Adriano, Restagno, Gabriella, Mandrioli, Jessica, Benatar, Michael, Taylor, J. Paul, Singleton, Andrew B.

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Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome 由 Piccoli, Giorgina Barbara, Bonino, Laura Davico, Campisi, Paola, Vigotti, Federica Neve, Ferraresi, Martina, Fassio, Federica, Brocheriou, Isabelle, Porpiglia, Francesco, Restagno, Gabriella

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A de novo nonsense mutation of the FUS gene in an apparently familial ALS case 由 Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Barberis, Marco, Traynor, Bryan J., Carrara, Giovanna, Valentini, Consuelo, Restagno, Gabriella, Chiò, Adriano

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A de novo missense mutation of the FUS gene in a ‘true’ sporadic ALS case 由 Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Ossola, Irene, Brunetti, Maura, Sbaiz, Luca, Lai, Shiao-lin, Abramzon, Yevgeniya, Traynor, Bryan J., Restagno, Gabriella

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Genome-Wide Analysis of the Heritability of Amyotrophic Lateral Sclerosis 由 Keller, Margaux F., Ferrucci, Luigi, Singleton, Andrew B., Tienari, Pentti J., Laaksovirta, Hannu, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J., Nalls, Michael A.

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Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis 由 Johnson, Janel O., Glynn, Shannon M., Gibbs, J. Raphael, Nalls, Mike A., Sabatelli, Mario, Restagno, Gabriella, Drory, Vivian E., Chiò, Adriano, Rogaeva, Ekaterina, Traynor, Bryan J.

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UNC13A influences survival in Italian ALS patients: a population-based study 由 Chiò, Adriano, Mora, Gabriele, Restagno, Gabriella, Brunetti, Maura, Ossola, Irene, Barberis, Marco, Ferrucci, Luigi, Canosa, Antonio, Manera, Umberto, Moglia, Cristina, Fuda, Giuseppe, Traynor, Bryan J., Calvo, Andrea

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Valosin-containing protein mutations in sporadic amyotrophic lateral sclerosis 由 Abramzon, Yevgeniya, Johnson, Janel O., Scholz, Sonja W., Taylor, J. Paul, Brunetti, Maura, Calvo, Andrea, Mandrioli, Jessica, Benatar, Michael, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.

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Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? 由 Floris, Gianluca, Borghero, Giuseppe, Cannas, Antonino, Di Stefano, Francesca, Costantino, Emanuela, Murru, Maria R., Brunetti, Maura, Restagno, Gabriella, Traynor, Bryan J., Marrosu, Maria G., Chiò, Adriano, Marrosu, Francesco

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Extensive genetics of ALS: A population-based study in Italy 由 Chiò, Adriano, Calvo, Andrea, Mazzini, Letizia, Cantello, Roberto, Mora, Gabriele, Moglia, Cristina, Corrado, Lucia, D'Alfonso, Sandra, Majounie, Elisa, Renton, Alan, Pisano, Fabrizio, Ossola, Irene, Brunetti, Maura, Traynor, Bryan J., Restagno, Gabriella

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The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients 由 Cistaro, Angelina, Pagani, Marco, Montuschi, Anna, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Restagno, Gabriella, Brunetti, Maura, Traynor, Bryan J., Nobili, Flavio, Carrara, Giovanna, Fania, Piercarlo, Lopiano, Leonardo, Valentini, M. Consuelo, Chiò, Adriano

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Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation 由 Chiò, Adriano, Restagno, Gabriella, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Mora, Gabriele, Sabatelli, Mario, Monsurrò, Maria Rosaria, Battistini, Stefania, Mandrioli, Jessica, Salvi, Fabrizio, Spataro, Rossella, Schymick, Jennifer, Traynor, Bryan J., La Bella, Vincenzo

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Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations 由 Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Restagno, Gabriella, Ossola, Irene, Brunetti, Maura, Montuschi, Anna, Cistaro, Angelina, Ticca, Anna, Traynor, Bryan J., Schymick, Jennifer C., Mutani, Roberto, Marrosu, Maria Giovanna, Murru, Maria Rita, Borghero, Giuseppe

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A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms and FTD 由 Borghero, Giuseppe, Floris, Gianluca, Cannas, Antonino, Marrosu, Maria G., Murru, Maria R., Costantino, Emanuela, Parish, Leslie D., Pugliatti, Maura, Ticca, Anna, Traynor, Bryan J., Calvo, Andrea, Cammarosano, Stefania, Moglia, Cristina, Cistaro, Angelina, Brunetti, Maura, Restagno, Gabriella, Chiò, Adriano

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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients 由 Traynor, Bryan J., Nalls, Michael, Lai, Shiao-Lin, Gibbs, Raphael J., Schymick, Jennifer C., Arepalli, Sampath, Hernandez, Dena, van der Brug, Marcel P., Johnson, Janel O., Dillman, Allissa, Cookson, Mark, Moglia, Cristina, Calvo, Andrea, Restagno, Gabriella, Mora, Gabriele, Chiò, Adriano

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ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations 由 Chiò, Adriano, Restagno, Gabriella, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Floris, Gianluca, Tacconi, Paolo, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Majounie, Elisa, Renton, Alan E, Abramzon, Yvegeniya, Pugliatti, Maura, Sotgiu, Maria Alessandra, Traynor, Bryan J, Borghero, Giuseppe

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Homozygosity analysis in amyotrophic lateral sclerosis 由 Mok, Kin, Laaksovirta, Hannu, Tienari, Pentti J, Peuralinna, Terhi, Myllykangas, Liisa, Chiò, Adriano, Traynor, Bryan J, Nalls, Michael A, Gurunlian, Nicole, Shatunov, Aleksey, Restagno, Gabriella, Mora, Gabriele, Nigel Leigh, P, Shaw, Chris E, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Hardy, John, Orrell, Richard W

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Large proportion of amyotrophic lateral sclerosis cases in Sardinia are due to a single founder mutation of the TARDBP gene 由 Chiò, Adriano, Borghero, Giuseppe, Pugliatti, Maura, Ticca, Anna, Calvo, Andrea, Moglia, Cristina, Mutani, Roberto, Brunetti, Maura, Ossola, Irene, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cossu, Paola, Abramzon, Yevgeniya, Johnson, Janel O., Nalls, Michael A., Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Traynor, Bryan J., Restagno, Gabriella

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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry 由 Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cau, Tea B., Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Renton, Alan E., Nalls, Mike A., Traynor, Bryan J., Restagno, Gabriella, Chiò, Adriano

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