檢索結果 - Silvana Penco

  • Showing 1 - 15 results of 15
Refine Results
  1. 1
    Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant <i>SOD1</i> mutations

    Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant <i>SOD1</i> mutations 由 Fabio Coppedè, Andrea Stoccoro, Lorena Mosca, Roberta Gallo, Claudia Tarlarini, Christian Lunetta, Alessandro Marocchi, Lucia Migliore, Silvana Penco

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma <scp>HDL</scp> levels in chronic kidney disease

    Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma <scp>HDL</scp> levels in chronic kidney disease 由 Laura Calabresi, Sara Simonelli, Paola Conca, G Busnach, Mara Cabibbe, Loreto Gesualdo, Maddalena Gigante, Silvana Penco, Fabrizio Veglia, Guido Franceschini

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

    Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure 由 Giacomo Colussi, Liat Ganon, Silvana Penco, M. E. De Ferrari, Federica Ravera, Marialuisa Querques, Paola Primignani, Eliezer J. Holtzman, Dganit Dinour

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and managem... 由 Ilaria Di Donato, Silvia Bianchi, Nicola De Stefano, Martin Dichgans, Maria Teresa Dotti, Marco Duering, Éric Jouvent, Amos D. Korczyn, Saskia A.J. Lesnik Oberstein, Alessandro Malandrini, Hugh S. Markus, Leonardo Pantoni, Silvana Penco, Alessandra Rufa, Osman Sinanović, Dragan Stojanov, Antonio Federico

    出版 2017
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations 由 Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, Giovanni Gesu, Lucio Giordano Accorsi, Stefano Parmigiani, Maria Franca Corona, Valeria Capra, Andrea Mosca, S. Giovannini, Francesca Notturno, Fausta Ciccocioppo, L. Volpi, Margherita Estienne, Giuseppe De Michele, Antonella Antenora, Leonilda Bilo, Antonietta Tavoni, Nelia Zamponi, Enrico Alfei, Giovanni Baranello, Daria Riva, Silvana Penco

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    <i>TBK1</i>mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

    <i>TBK1</i>mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation 由 Laura Pozzi, F. Valenza, Lorena Mosca, Andrea Dal Mas, Teuta Domi, Alessandro Romano, Claudia Tarlarini, Yuri Falzone, Lucio Tremolizzo, Gianni Sorarù, Federica Cerri, Pilar M. Ferraro, Silvia Basaia, Federica Agosta, Raffaella Fazio, M. Comola, Giacomo P. Comi, Maurizio Ferrari, Angelo Quattrini, Christian Lunetta, Silvana Penco, Dario Bonanomi, Paola Carrera, Nilo Riva

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

    CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 由 Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Bryan J. Traynor, Janel O. Johnson, Mike A. Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Logullo, Nilo Riva, Stefania Battistini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, F. L. Conforti, Maura Brunetti, Marco Barberis, Gabriella Restagno, Silvana Penco, Christian Lunetta

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

    The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis 由 Viviana Palazzo, Aldesia Provenzano, Francesca Becherucci, Giulia Sansavini, Benedetta Mazzinghi, Valerio Orlandini, Laura Giunti, Rosa Maria Roperto, Marilena Pantaleo, Rosangela Artuso, Elena Andreucci, Sara Bargiacchi, Giovanna Traficante, Stefano Stagi, Luisa Murer, Elisa Benetti, Francesco Emma, Mario Giordano, Francesca Rivieri, Giacomo Colussi, Silvana Penco, Emanuela Manfredini, Rosa Caruso, Livia Garavelli, Simeone Andrulli, Gianluca Vergine, Nunzia Miglietti, Elena Mancini, Cristina Malaventura, Antonio Percesepe, Enrico Grosso, Marco Materassi, Paola Romagnani, Sabrina Giglio

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls

    Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis inv... 由 Benedetto Simone, Valerio De Stefano, Emanuele Leoncini, Jeppe Zacho, Ida Martinelli, Joseph Emmerich, Elena Rossi, Aaron R. Folsom, Wassim Y. Almawi, Pierre Yves Scarabin, Martin den Heijer, Mary Cushman, Silvana Penco, Amparo Vayá, Pantep Angchaisuksiri, Gülfer Okumuş, Donato Gemmati, S. Cima, Nejat Akar, Kıvılcım Oğuzülgen, Véronique Ducros, Christoph Lichy, Consuelo Fernández‐Miranda, Andrzej Szczeklik, J. Aizpurua Nieto, José Domingo Torres, Véronique Le Cam‐Duchez, P Ivanov, Carlos Cantú‐Brito, В М Шмелева, Mojka Stegnar, Dotun Ogunyemi, Suhair S Eid, Nicola Nicolotti, Emma De Feo, Walter Ricciardi, Stefania Boccia

    出版 2013
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  10. 10
    C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

    C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population 由 Mario Sabatelli, F. L. Conforti, Marcella Zollino, Gabriele Mora, Maria Rosaria Monsurrò, Paolo Volanti, Kalliopi Marinou, Fabrizio Salvi, Massimo Corbo, Fabio Giannini, Stefania Battistini, Silvana Penco, Christian Lunetta, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Laura Simone, Ilaria Bartolomei, Fabrizio Pisano, Gioacchino Tedeschi, Amelia Conte, Rossella Spataro, Vincenzo La Bella, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Patrizia Sola, Jessica Mandrioli, Alan E. Renton, Elisa Majounie, Yevgeniya Abramzon, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura Pugliatti, Carmelo Rodolico, Cristina Moglia, Andrea Calvo, Irene Ossola, Maura Brunetti, Bryan J. Traynor, Giuseppe Borghero, Gabriella Restagno, Adriano Chiò

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

    Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 由 Adriano Chió, Giuseppe Borghero, Gabriella Restagno, Gabriele Mora, Carsten Drepper, Bryan J. Traynor, Michael Sendtner, M. Brunetti, Irene Ossola, Andrea Calvo, Maura Pugliatti, Maria Alessandra Sotgiu, Maria Rita Murru, Maria Giovanna Marrosu, Francesco Marrosu, Kalliopi Marinou, Jessica Mandrioli, Patrizia Sola, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Vincenzo La Bella, Rossella Spataro, Amelia Conte, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Fabrizio Pisano, Ilaria Bartolomei, Fabrizio Salvi, Giuseppe Lauria, Isabella Laura Simone, Giancarlo Logroscino, Antonio Gambardella, Aldo Quattrone, Christian Lunetta, Paolo Volanti, Marcella Zollino, Silvana Penco, Stefania Battistini, Alan E. Renton, Elisa Majounie, Yevgeniya Abramzon, F. L. Conforti, F. Giannini, Massimo Corbo, Mario Sabatelli

    出版 2012
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Genetic counselling in ALS: facts, uncertainties and clinical suggestions

    Genetic counselling in ALS: facts, uncertainties and clinical suggestions 由 Adriano Chió, Stefania Battistini, Andrea Calvo, Claudia Caponnetto, F. L. Conforti, Massimo Corbo, F. Giannini, Jessica Mandrioli, Gabriele Mora, Mario Sabatelli, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Paolo Volanti, Kalliopi Marinou, Laura Papetti, Christian Lunetta, Giampaolo Pintor, Fabrizio Salvi, Ilaria Bartolomei, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Laura Simone, Fabrizio Pisano, Rossella Spataro, Vincenzo La Bella, Tiziana Colletti, Gianluigi Mancardi, Paola Origone, Víctor Pérez, Giuseppe Borghero, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Valeria Piras, E Costantino, Carla Pani, Maria Alessandra Sotgiu, Maura Pugliatti, Leslie D. Parish, P Cossu, Anna Ticca, Carmelo Rodolico, Simona Portaro, Claudia Ricci, Cristina Moglia, Irene Ossola, Maura Brunetti, Marco Barberis, Antonio Canosa, Stefania Cammarosano, Davide Bertuzzo, Giuseppe Fuda, Antonio Ilardi, Umberto Manera, Ida Pastore, William Sproviero, Francesco Logullo, Raffaella Tanel, Clara Ajmone, Enza Mastro, Debora Pain, Paola Mandich, Silvana Penco, Gabriella Restagno, Marcella Zollino, Antonella Surbone

    出版 2013
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  13. 13
    TBK1 is associated with ALS and ALS-FTD in Sardinian patients

    TBK1 is associated with ALS and ALS-FTD in Sardinian patients 由 Giuseppe Borghero, Maura Pugliatti, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Gianluca Floris, Antonino Cannas, Patrizia Occhineri, Tea B. Cau, Daniela Loi, Anna Ticca, S. Traccis, Umberto Manera, Antonio Canosa, Cristina Moglia, Andrea Calvo, Marco Barberis, Maura Brunetti, J. Raphael Gibbs, Alan E. Renton, Edoardo Errichiello, Magdalena Żołędziewska, Antonella Mulas, Yong Qian, Jun Din, Hannah A. Pliner, Bryan J. Traynor, Adriano Chiò, Francesco Logullo, Isabella Laura Simone, Giancarlo Logroscino, Fabrizio Salvi, Ilaria Bartolomei, Margherita Capasso, Claudia Caponnetto, Paola Mandich, Gianluigi Mancardi, Paola Origone, F. L. Conforti, Giuseppe Vita, Sonia Messina, Massimo Russo, Gabriele Mora, Kalliopi Marinou, Riccardo Sideri, Christian Lunetta, Silvana Penco, Lorena Mosca, Giuseppe Lauria, Massimo Corbo, Nilo Riva, Paola Carrera, Paolo Volanti, Lucio Tremolizzo, Carlo Ferrarese, Nicola Fini, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Francesca Trojsi, Giovanni Piccirillo, Viviana Cristillo, Letizia Mazzini, Sandra D’Alfonso, Anna Bersano, Lucia Corrado, Alessandra Bagarotti, Vincenzo La Bella, Rossella Spataro, Tiziana Colletti, Mario Sabatelli, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Giuseppe Marangi, Marialuisa Santarelli, Antonio Petrucci, Fabio Giannini, Stefania Battistini, Claudia Ricci, Michele Benigni, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Raffaella Tanel, Fabrizio Pisano, E Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu

    出版 2016
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

    Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 由 Sara Bandrés‐Ciga, Alastair Noyce, Gibran Hemani, A Arosio, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Michele Benigni, Giuseppe Borghero, Maura Brunetti, Andrea Calvo, Stefania Cammarosano, Antonino Cannas, Antonio Canosa, Margherita Capasso, Claudia Caponnetto, Carla Caredda, Paola Carrera, Federico Casale, Sebastiano Cavallaro, Tiziana Colletti, F. L. Conforti, Amelia Conte, Lucia Corrado, E Costantino, Sandra D’Alfonso, Antonio Fasano, Cinzia Femiano, Carlo Ferrarese, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Fabio Giannini, Maurizio Grassano, Antonio Ilardi, Vincenzo La Bella, Serena Lattante, Giancarlo Logroscino, Francesco Logullo, Daniela Loi, Christian Lunetta, Gianluigi Mancardi, Paola Mandich, Jessica Mandrioli, Umberto Manera, Giuseppe Marangi, Kalliopi Marinou, Giuseppe Marrali, Maria Giovanna Marrosu, Letizia Mazzini, Maurizio Melis, Sonia Messina, Cristina Moglia, Maria Rosaria Monsurrò, Gabriele Mora, Luigi Mosca, Patrizia Occhineri, Paola Origone, Carla Pani, Silvana Penco, Antonio Petrucci, Giovanni Piccirillo, Angelo Pirisi, Fabrizio Pisano, Maura Pugliatti, Gabriella Restagno, Claudia Ricci, Maria Rita Murru, Nilo Riva, Mario Sabatelli, Fabrizio Salvi, Marialuisa Santarelli, Riccardo Sideri, Isabella Laura Simone, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Paolo Volanti, Marcella Zollino, Yevgeniya Abramzon, Sampath Arepalli, Robert Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James R. Broach, Roy H. Campbell, William Camu, Ruth Chia, Johnathan Cooper‐Knock, Daniele Cusi, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis Dunckley, John D. Eicher, Faraz Faghri

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

    A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 由 Isabella Fogh, Antonia Ratti, Cinzia Gellera, K. Lin, Cinzia Tiloca, Valentina Moskvina, Lucia Corrado, Gianni Sorarù, Cristina Cereda, Stefania Corti, Davide Gentilini, Daniela Calini, Barbara Castellotti, Letizia Mazzini, Giorgia Querin, Stella Gagliardi, Roberto Del Bo, F. L. Conforti, Gabriele Siciliano, Maurizio Inghilleri, Francesco Saccà, Paolo Bongioanni, Silvana Penco, Massimo Corbo, Sandro Sorbi, Massimiliano Filosto, Alessandra Ferlini, Anna Maria Di Blasio, Stefano Signorini, Aleksey Shatunov, Ashley Jones, Pamela J. Shaw, Karen Morrison, Anne Farmer, Philip Van Damme, Wim Robberecht, Adriano Chió, Bryan J. Traynor, Michael Sendtner, Judith Melki, Vincent Meininger, Orla Hardiman, Peter M. Andersen, Nigel P. Leigh, Jonathan D. Glass, Daniel J. Overste, Frank P. Diekstra, Jan H. Veldink, Michael A. van Es, Christopher E. Shaw, Michael E. Weale, Cathryn M. Lewis, Julie Williams, Robert H. Brown, John E. Landers, Nicola Ticozzi, Mauro Ceroni, Elena Pegoraro, Giacomo P. Comi, Sandra D’Alfonso, Leonard H. van den Berg, Franco Taroni, Ammar Al‐Chalabi, John Powell, Vincenzo Silani, Vincenzo Brescia Morra, Alessandro Filla, Massimo Falconi, Angela Marsili, P. Viviana, Giorgia Puorro, Vincenzo La Bella, Giancarlo Logroscino, Maria Rosaria Monsurrò, Aldo Quattrone, Isabella Laura Simone, Kreshnik Ahmeti, Senda Ajroud‐Driss, Jennifer A. Armstrong, A. Birve, Hylke M. Blauw, Lucie Bruijn, W. Chen, Mary C. Comeau, Simon Cronin, Ghasemi Soraya, Josh D Grab, Ewout J. N. Groen, Jonathan L. Haines, Sandra Heller, Jie Huang, W.‐Y. Hung, ITALSGEN Consortium, James Jaworski, Humaira Majeed Khan, Carl D. Langefeld, Miranda C. Marion, Russell L. McLaughlin, Jack W. Miller, Gabriele Mora

    出版 2013
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:

檢索工具: