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101. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Basak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Soraru, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chio, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stephanie, Meininger, Vincent, Salachas, Francois, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nothen, Markus M., Amouyel, Philippe, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L., Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Joerk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Huebner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaz, Zidar, Janez, Ravnik-Glavac, Metka, Glavac, Damjan, Stevic, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Jr., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Basak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D'Alfonso, Sandra, Soraru, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chio, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stephanie, Meininger, Vincent, Salachas, Francois, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-Garcia, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nothen, Markus M., Amouyel, Philippe, Comi, Giancarlo, Riva, Nilo, Lunetta, Christian, Gerardi, Francesca, Cotelli, Maria Sofia, Rinaldi, Fabrizio, Chiveri, Luca, Guaita, Maria Cristina, Perrone, Patrizia, Ceroni, Mauro, Diamanti, Luca, Ferrarese, Carlo, Tremolizzo, Lucio, Delodovici, Maria Luisa, Bono, Giorgio, Manera, Umberto, Vasta, Rosario, Bombaci, Alessandro, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Palumbo, Francesca, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, Bertolotto, Antonio, Gionco, Maurizio, Leotta, Daniela, Odddenino, Enrico, Imperiale, Daniele, Cavallo, Roberto, Pignatta, Pietro, De Mattei, Marco, Geda, Claudio, Papurello, Diego Maria, Gusmaroli, Graziano, Comi, Cristoforo, Labate, Carmelo, Ruiz, Luigi, Ferrandi, Delfina, Rota, Eugenia, Aguggia, Marco, Di Vito, Nicoletta, Meineri, Piero, Ghiglione, Paolo, Launaro, Nicola, Dotta, Michele, Di Sapio, Alessia, Giardini, Guido, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Del Bo, Roberto, Gagliardi, Stella, Raggi, Flavia, Simoncini, Costanza, Lo Gerfo, Annalisa, Inghilleri, Maurizio, Ferlini, Alessandra, Simone, Isabella L., Passarella, Bruno, Guerra, Vito, Zoccolella, Stefano, Nozzoli, Cecilia, Mundi, Ciro, Leone, Maurizio, Zarrelli, Michele, Tamma, Filippo, Valluzzi, Francesco, Calabrese, Gianluigi, Boero, Giovanni, Rini, Augusto, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Joerk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Huebner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaz, Zidar, Janez, Ravnik-Glavac, Metka, Glavac, Damjan, Stevic, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Robert H., Jr., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.

Abstract

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

Published
2021
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102. Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

Author

Falzarano, Maria Sofia, Rossi, Rachele, Grilli, Andrea, Fang, Mingyan, Osman, Hana, Sabatelli, Patrizia, Antoniel, Manuela, Lu, Zhiyuan, Li, Wenyan, Selvatici, Rita, Al-Khalili Szigyarto, Cristina, Gualandi, Francesca, Bicciato, Silvio, Torelli, Silvia, Ferlini, Alessandra, Falzarano, Maria Sofia, Rossi, Rachele, Grilli, Andrea, Fang, Mingyan, Osman, Hana, Sabatelli, Patrizia, Antoniel, Manuela, Lu, Zhiyuan, Li, Wenyan, Selvatici, Rita, Al-Khalili Szigyarto, Cristina, Gualandi, Francesca, Bicciato, Silvio, Torelli, Silvia, and Ferlini, Alessandra

Abstract

Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathological mechanisms underlying NMDs and to eventually identify new potential drugs paving the way for personalized medicine, limitations regarding the availability of neuromuscular disease-related biological samples, rarely accessible from patients, are a major challenge. & nbsp; Aim: We characterized urinary stem cells (USCs) by in-depth transcriptome and protein profiling to evaluate whether this easily accessible source of patient-derived cells is suitable to study neuromuscular genetic diseases, focusing especially on those currently involved in clinical trials. & nbsp; Methods: The global transcriptomics of either native or MyoD transformed USCs obtained from control individuals was performed by RNA-seq. The expression of 610 genes belonging to 16 groups of disorders () whose mutations cause neuromuscular diseases, was investigated on the RNA-seq output. In addition, protein expression of 11 genes related to NMDs including COL6A, EMD, LMNA, SMN, UBA1, DYNC1H1, SOD1, C9orf72, DYSF, DAG1, and HTT was analyzed in native USCs by immunofluorescence and/or Western blot (WB). & nbsp; Results: RNA-seq profile of control USCs shows that 571 out of 610 genes known to be involved in NMDs, are expressed in USCs. Interestingly, the expression levels of the majority of NMD genes remain unmodified following USCs MyoD transformation. Most genes involved in the pathogenesis of all 16 groups of NMDs are well represented except for channelopathies and malignant hyperthermia related genes. All tested proteins showed high expression values, suggesting consistency between transcription and protein representation in USCs. & nbsp; Conclusion: Our data, QC 20211122

Published
2021
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103. Circadian Genes as Exploratory Biomarkers in DMD : Results From Both the mdx Mouse Model and Patients

Author

Rossi, Rachele, Falzarano, Maria Sofia, Osman, Hana, Armaroli, Annarita, Scotton, Chiara, Mantuano, Paola, Boccanegra, Brigida, Cappellari, Ornella, Schwartz, Elena, Yuryev, Anton, Mercuri, Eugenio, Bertini, Enrico, D'Amico, Adele, Mora, Marina, Johansson, Camilla, Al-Khalili Szigyarto, Cristina, De Luca, Annamaria, Ferlini, Alessandra, Rossi, Rachele, Falzarano, Maria Sofia, Osman, Hana, Armaroli, Annarita, Scotton, Chiara, Mantuano, Paola, Boccanegra, Brigida, Cappellari, Ornella, Schwartz, Elena, Yuryev, Anton, Mercuri, Eugenio, Bertini, Enrico, D'Amico, Adele, Mora, Marina, Johansson, Camilla, Al-Khalili Szigyarto, Cristina, De Luca, Annamaria, and Ferlini, Alessandra

Abstract

Duchenne muscular dystrophy (DMD) is a rare genetic disease due to dystrophin gene mutations which cause progressive weakness and muscle wasting. Circadian rhythm coordinates biological processes with the 24-h cycle and it plays a key role in maintaining muscle functions, both in animal models and in humans. We explored expression profiles of circadian circuit master genes both in Duchenne muscular dystrophy skeletal muscle and in its animal model, the mdx mouse. We designed a customized, mouse-specific Fluidic-Card-TaqMan-based assay (Fluid-CIRC) containing thirty-two genes related to circadian rhythm and muscle regeneration and analyzed gastrocnemius and tibialis anterior muscles from both unexercised and exercised mdx mice. Based on this first analysis, we prioritized the 7 most deregulated genes in mdx mice and tested their expression in skeletal muscle biopsies from 10 Duchenne patients. We found that CSNK1E, SIRT1, and MYOG are upregulated in DMD patient biopsies, consistent with the mdx data. We also demonstrated that their proteins are detectable and measurable in the DMD patients' plasma. We suggest that CSNK1E, SIRT1, and MYOG might represent exploratory circadian biomarkers in DMD., QC 20220301

Published
2021
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107. Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

Author

Ayoglu, Burcu, Chaouch, Amina, Lochmüller, Hanns, Politano, Luisa, Bertini, Enrico, Spitali, Pietro, Hiller, Monika, Niks, Eric H, Gualandi, Francesca, Pontén, Fredrik, Bushby, Kate, Aartsma-Rus, Annemieke, Schwartz, Elena, Le Priol, Yannick, Straub, Volker, Uhlén, Mathias, Cirak, Sebahattin, ‘t Hoen, Peter A C, Muntoni, Francesco, Ferlini, Alessandra, Schwenk, Jochen M, Nilsson, Peter, and Szigyarto, Cristina Al-Khalili

Published
2014
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108. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Author

Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, and Merla, Giuseppe

Published
2014
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109. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Author

Fogh, Isabella, Ratti, Antonia, Gellera, Cinzia, Lin, Kuang, Tiloca, Cinzia, Moskvina, Valentina, Corrado, Lucia, Sorarù, Gianni, Cereda, Cristina, Corti, Stefania, Gentilini, Davide, Calini, Daniela, Castellotti, Barbara, Mazzini, Letizia, Querin, Giorgia, Gagliardi, Stella, Del Bo, Roberto, Conforti, Francesca L., Siciliano, Gabriele, Inghilleri, Maurizio, Saccà, Francesco, Bongioanni, Paolo, Penco, Silvana, Corbo, Massimo, Sorbi, Sandro, Filosto, Massimiliano, Ferlini, Alessandra, Di Blasio, Anna M., Signorini, Stefano, Shatunov, Aleksey, Jones, Ashley, Shaw, Pamela J., Morrison, Karen E., Farmer, Anne E., Van Damme, Philip, Robberecht, Wim, Chiò, Adriano, Traynor, Bryan J., Sendtner, Michael, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Andersen, Peter M., Leigh, Nigel P., Glass, Jonathan D., Overste, Daniel, Diekstra, Frank P., Veldink, Jan H., van Es, Michael A., Shaw, Christopher E., Weale, Michael E., Lewis, Cathryn M., Williams, Julie, Brown, Robert H., Landers, John E., Ticozzi, Nicola, Ceroni, Mauro, Pegoraro, Elena, Comi, Giacomo P., DʼAlfonso, Sandra, van den Berg, Leonard H., Taroni, Franco, Al-Chalabi, Ammar, Powell, John, Silani, Vincenzo, Brescia Morra, Vincenzo, Filla, Alessandro, Massimo, Filosto, Marsili, Angela, Viviana, Pensato, Puorro, Giorgia, La Bella, Vincenzo, Logroscino, Giancarlo, Monsurrò, Maria Rosaria, Quattrone, Aldo, Simone, Isabella Laura, Ahmeti, Kreshnik B., Ajroud-Driss, Senda, Armstrong, Jennifer, Birve, Anne, Blauw, Hylke M., Bruijn, Lucie, Chen, Wenjie, Comeau, Mary C., Cronin, Simon, Soraya, Gkazi Athina, Grab, Josh D., Groen, Ewout J., Haines, Jonathan L., Heller, Scott, Huang, Jie, Hung, Wu-Yen, Jaworski, James M., Khan, Humaira, Langefeld, Carl D., Marion, Miranda C., McLaughlin, Russell L., Miller, Jack W., Mora, Gabriele, Pericak-Vance, Margaret A., Rampersaud, Evadnie, Siddique, Nailah, Siddique, Teepu, Smith, Bradley N., Sufit, Robert, Topp, Simon, Vance, Caroline, van Vught, Paul, Yang, Yi, and Zheng, J.G.

Published
2014
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111. A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

Author

Nallamilli, Babi R. R., primary, Chaubey, Alka, additional, Valencia, C. A., additional, Stansberry, Leah, additional, Behlmann, Andrea M., additional, Ma, Zeqiang, additional, Mathur, Abhinav, additional, Shenoy, Suresh, additional, Ganapathy, Vidya, additional, Jagannathan, Lakshmanan, additional, Ramachander, Vinish, additional, Ferlini, Alessandra, additional, Bean, Lora, additional, and Hegde, Madhuri, additional

Published
2021
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115. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Author

Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Van Der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-De Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van De Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina, Schon, Katherine [0000-0001-8054-8954], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Barcelona Institute of Science and Technology (BIST), University of Cambridge [UK] (CAM), Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., University of Aberdeen, Ruhr-Universität Bochum [Bochum], University Children's Hospital of Essen [Essen, Germany], Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D S Pitceathly, Kiran Polavarapu, Pedro M Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva, Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andrea, Chinnery, Patrick F, Kölbel, Heike, Roos, Andrea, Horvath, Rita, Nigro, Vincenzo, Torella, Annalaura, and Piluso, Giulio

Subjects
0301 basic medicine, Male, Proteome, 45/41, Developmental Disabilities, Medizin, 45/22, Biology, Bioinformatics, Nervous System Malformations, Brief Communication, 82/80, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, 38/23, Genetics research, Genetics, medicine, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Humans, Exome, Genetic Testing, Gene, Cerebellar hypoplasia, Genetics (clinical), Exome sequencing, Proteomic Profile, Proteomic Profiling, 82/58, 631/208/514/2254, brief-communication, 692/308/2056, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Spinal muscular atrophy, medicine.disease, 3. Good health, 030104 developmental biology, Congenital muscular dystrophy, Next-generation sequencing, 030217 neurology & neurosurgery, Transcription Factors
Abstract

TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we present the diagnostic journey of a patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Initial exome sequencing analysis revealed no candidate variants. Reanalysis of the exome data by inclusion in the Solve-RD project resulted in the identification of a homozygous stop-gain variant in the TRIP4 gene, previously reported as disease-causing. This highlights the importance of analysis reiteration and improved and updated bioinformatic pipelines. Proteomic profile of the patient's fibroblasts showed altered RNA-processing and impaired exosome activity supporting the pathogenicity of the detected variant. In addition, we identified a novel genetic form of PCH1, further strengthening the link of this characteristic phenotype with altered RNA metabolism. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. Several authors of this study are members of the European Reference Network for Neuromuscular disease, Project ID No 739543. This study was supported by the AFM (grant 21644 to AR), the framework of the NME-GPS project by the European Regional Development Fund (AR/US/AS), the support by the Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen, the Regierende Bürgermeister von Berlin-inkl. Wissenschaft und Forschung, and the Bundesministerium für Bildung und Forschung (AH and AS), the European Research Council (RH), the Wellcome Investigator Award (109915/Z/15/Z to RH), the Medical Research Council UK (MR/N025431/1 to RH), the Newton Fund (MR/N027302/1 to RH), the Lily Foundation (RH) and the Evelyn Trust (RH). This research was supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1 and the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). The views expressed are those of the authors and not necessarily those of the NIHR or the Department of Health and Social Care

Published
2020

116. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

Author

Passarelli, Chiara, Strandberg, Kristin, Al-Khalili Szigyarto, Cristina, Ferlini, Alessandra, Passarelli, Chiara, Strandberg, Kristin, Al-Khalili Szigyarto, Cristina, and Ferlini, Alessandra

Abstract

Background Duchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with corticosteroids (CS). In order to search for SNP biomarkers for corticosteroid responsiveness, we genotyped variants across 205 DMD-related genes in patients with differential response to steroid treatment. Methods and Findings We enrolled a total of 228 DMD patients with identified dystrophin mutations, 78 of these patients have been under corticosteroid treatment for at least 5 years. DMD patients were defined as high responders (HR) if they had maintained the ability to walk after 15 years of age and low responders (LR) for those who had lost ambulation before the age of 10 despite corticosteroid therapy. Based on interactome mapping, we prioritized 205 genes and sequenced them in 21 DMD patients (discovery cohort or DiC = 21). We identified 43 SNPs that discriminate between HR and LR. Discriminant Analysis of Principal Components (DAPC) prioritized 2 response-associated SNPs in theTNFRSF10Agene. Validation of this genotype was done in two additional larger cohorts composed of 46 DMD patients on corticosteroid therapy (validation cohorts or VaC1), and 150 non ambulant DMD patients and never treated with corticosteroids (VaC2). SNP analysis in all validation cohorts (N= 207) showed that the CT haplotype is significantly associated with HR DMDs confirming the discovery results. Conclusion We have shown that TNFRSF10A CT haplotype correlates with corticosteroid response in DMD patients and propose it as an exploratory CS response biomarker., QC 20200818

Published
2020
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117. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Author

Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio Maria, Ferlini, Alessandra, Pane, Marika (ORCID:0000-0002-4851-6124), Servidei, Serenella (ORCID:0000-0001-8478-2799), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio Maria, Ferlini, Alessandra, Pane, Marika (ORCID:0000-0002-4851-6124), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008-2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. Among small mutations that are generally frequent in both phenotypes, 44% of DMD and 36% of BMD are nonsense, thus, eligible for stop codon read-through therapy; 63% of all out-of-frame deletions are eligible for single exon skipping. Patients were also assigned to Italian regions and showed interesting regional differences in mutation distribution. The full genetic characterization in this large, nationwide cohort has allowed us to draw several correlations between DMD/BMD genotype landscapes and mutation frequency, mutation types, mutation locations along the gene, exon/intron architecture, and relevant protein domain, with effects on population genetic characteristics and new personalized therapies.

Published
2020

119. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Author

Selvatici, Rita, primary, Rossi, Rachele, additional, Fortunato, Fernanda, additional, Trabanelli, Cecilia, additional, Sifi, Yamina, additional, Margutti, Alice, additional, Neri, Marcella, additional, Gualandi, Francesca, additional, Szabò, Lena, additional, Fekete, Balint, additional, Angelova, Lyudmilla, additional, Litvinenko, Ivan, additional, Ivanov, Ivan, additional, Vildan, Yurtsever, additional, Iuhas, Oana Alexandra, additional, Vintan, Mihaela, additional, Burloiu, Carmen, additional, Lacramioara, Butnariu, additional, Visa, Gabriela, additional, Epure, Diana, additional, Rusu, Cristina, additional, Vasile, Daniela, additional, Sandu, Magdalena, additional, Vlodavets, Dmitry, additional, Mager, Monica, additional, Kyriakides, Theodore, additional, Delin, Sanja, additional, Lehman, Ivan, additional, Fureš, Jadranka Sekelj, additional, Bojinova, Veneta, additional, Militaru, Mariela, additional, Guergueltcheva, Velina, additional, Burnyte, Birute, additional, Molnar, Maria Judith, additional, Butoianu, Niculina, additional, Bensemmane, Selma Dounia, additional, Makri-Mokrane, Samira, additional, Herczegfalvi, Agnes, additional, Panzaru, Monica, additional, Emandi, Adela Chirita, additional, Lusakowska, Anna, additional, Potulska-Chromik, Anna, additional, Kostera-Pruszczyk, Anna, additional, Shatillo, Andriy, additional, Khelladi, Djawed Bouchenak, additional, Dendane, Oussama, additional, Fang, Mingyan, additional, Lu, Zhiyuan, additional, and Ferlini, Alessandra, additional

Published
2020
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122. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Author

Barthélémy, Inès, Bourke, John P., Cripe, Linda H, Reuben, Emily, Evangelista, Teresinha, Ferlini, Alessandra, Florian, Anca, Gribnau, Josh, Gonzalez-Quereda, Lidia, Guglieri, Michela, Niks, Erik, Phadke, Rahul, Politano, Luisa, Quinlivan, Ros, Sarkozy, Anna, Vissing, John, Voermans, Nicol, Vroom, Elizabeth, Pietrusz, Aleksandra, Fortunato, Fernanda, Houwen, Saskia, and Quinlivan, Rosaline

Published
2023
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124. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

Author

Rapezzi, Claudio, Quarta, Candida Cristina, Obici, Laura, Perfetto, Federico, Longhi, Simone, Salvi, Fabrizio, Biagini, Elena, Lorenzini, Massimiliano, Grigioni, Francesco, Leone, Ornella, Cappelli, Francesco, Palladini, Giovanni, Rimessi, Paola, Ferlini, Alessandra, Arpesella, Giorgio, Pinna, Antonio Daniele, Merlini, Giampaolo, and Perlini, Stefano

Published
2013
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125. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

Author

Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, and Hultén, Maj

Published
2001
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126. Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype.

Author

Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, and Bigoni, Stefania

Abstract

Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of expressive language development, friendly disposition, and multiple systemic abnormalities. So far, most of the individuals affected by KdVS are diagnosed in infancy or in adolescence; to the best of our knowledge, only 34 (including ours) adults have been reported in literature. Here we present the adult phenotype of a 63‐year‐old Italian woman affected by KdVS, caused by a 17q21.31 microdeletion. She is, to our knowledge, the oldest affected individual reported so far. We collected her clinical history and photographs, as well as those of other 26 adult patients described so far and compared her to them. We propose that the cardinal features of KdVS in adulthood are ID (ranging from mild to severe, usually moderate), friendly behavior, musculoskeletal abnormalities (especially scoliosis), and facial dysmorphism (a long face and a pronounced pear‐shape nose with bulbous overhanging nasal tip). Therefore, we suggest considering KdVS in differential diagnosis in adult patients characterized by these features. [ABSTRACT FROM AUTHOR]

Published
2022
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130. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Author

Anthony, Karen, Cirak, Sebahattin, Torelli, Silvia, Tasca, Giorgio, Feng, Lucy, Arechavala-Gomeza, Virginia, Armaroli, Annarita, Guglieri, Michela, Straathof, Chiara S., Verschuuren, Jan J., Aartsma-Rus, Annemieke, Helderman-van den Enden, Paula, Bushby, Katherine, Straub, Volker, Sewry, Caroline, Ferlini, Alessandra, Ricci, Enzo, Morgan, Jennifer E., and Muntoni, Francesco

Published
2011
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132. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Author

Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, and Nelson, Stanley F.

Published
2019
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134. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Author

Matalonga, Leslie, primary, Laurie, Steven, additional, Papakonstantinou, Anastasios, additional, Piscia, Davide, additional, Mereu, Elisabetta, additional, Bullich, Gemma, additional, Thompson, Rachel, additional, Horvath, Rita, additional, Pérez-Jurado, Luis, additional, Riess, Olaf, additional, Gut, Ivo, additional, van Ommen, Gert-Jan, additional, Lochmüller, Hanns, additional, Beltran, Sergi, additional, Renieri, Alessandra, additional, Dursun, Ali, additional, Matilla-Duenas, Antoni, additional, Cormand, Bru, additional, Rivolta, Carlo, additional, Ayuso, Carmen, additional, Espinós, Carmen, additional, Scerri, Christian, additional, Yalnizoglu, Dilek, additional, Soler, Doriette, additional, Morava, Eva, additional, Barbetti, Fabrizio, additional, Forzano, Francesca, additional, Mari, Francesca, additional, Muntoni, Francesco, additional, Tort, Frederic, additional, Houlden, Henry James, additional, Tejada, Maria-Isabel, additional, Senderek, Jan, additional, Benitez, Javier, additional, De La Calle, Javier Corral, additional, Serra, Jordi, additional, Millán, José Ma, additional, Segovia, Jose, additional, Gimeno Blanes, Juan Ramon, additional, Armstrong, Judith, additional, Ozgul, Koksal, additional, Vilarinho, Laura, additional, Montoliu, Lluis, additional, Posada, Manuel, additional, Mencarelli, Maria Antonietta, additional, Mora, Marina, additional, Bianchi, Paola, additional, Seeman, Pavel, additional, Elliott, Perry M., additional, Ferlini, Alessandra, additional, Brice, Alexis, additional, Wirth, Brunhilde, additional, Hanna, Mike, additional, Tabrizi, Sarah, additional, Klockgether, Thomas, additional, Timmerman, Vincent, additional, Straub, Volker, additional, Kurul, Semra Hiz, additional, Oktay, Yavuz, additional, Gungor, Serdal, additional, Yaramis, Ahmet, additional, Yis, Uluc, additional, Macaya, Alfons, additional, Ribes, Antonia, additional, Pujol, Aurora, additional, Lázaro, Conxi, additional, Grinberg, Daniel, additional, Tizzano, Eduardo, additional, Cardellach, Francesc, additional, Palau, Francesc, additional, Milà, Montse, additional, Gallano, Pia, additional, Artuch, Rafael, additional, MartiSeves, Ramon, additional, Villanueva, Gonzalo, additional, Vidal, Silvia, additional, Garrabou, Gloria, additional, Balcells, Susanna, additional, Urreizti, Roser, additional, López, Estrella, additional, Cuscó, Ivon, additional, Valenzuela, Irene, additional, and Sabater, Maria, additional

Published
2020
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136. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

Author

Farnè, Marianna, primary, Tedesco, Giovanna M., additional, Bedetti, Chiara, additional, Mencarelli, Amedea, additional, Rogaia, Daniela, additional, Colavito, Davide, additional, Di Cara, Giuseppe, additional, Stangoni, Gabriela, additional, Troiani, Stefania, additional, Ferlini, Alessandra, additional, and Prontera, Paolo, additional

Published
2020
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137. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

Author

Passarelli, Chiara, primary, Selvatici, Rita, additional, Carrieri, Alberto, additional, Di Raimo, Francesca Romana, additional, Falzarano, Maria Sofia, additional, Fortunato, Fernanda, additional, Rossi, Rachele, additional, Straub, Volker, additional, Bushby, Katie, additional, Reza, Mojgan, additional, Zharaieva, Irina, additional, D’Amico, Adele, additional, Bertini, Enrico, additional, Merlini, Luciano, additional, Sabatelli, Patrizia, additional, Borgiani, Paola, additional, Novelli, Giuseppe, additional, Messina, Sonia, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Claustres, Mireille, additional, Tuffery-Giraud, Sylvie, additional, Aartsma-Rus, Annemieke, additional, Spitali, Pietro, additional, T’Hoen, Peter A. C., additional, Lochmüller, Hanns, additional, Strandberg, Kristin, additional, Al-Khalili, Cristina, additional, Kotelnikova, Ekaterina, additional, Lebowitz, Michael, additional, Schwartz, Elena, additional, Muntoni, Francesco, additional, Scapoli, Chiara, additional, and Ferlini, Alessandra, additional

Published
2020
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138. Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies

Author

Armaroli, Annarita, primary, Balla, Cristina, additional, Trabanelli, Cecilia, additional, Selvatici, Rita, additional, Brieda, Alessandro, additional, Sette, Elisabetta, additional, Bertini, Matteo, additional, Mele, Donato, additional, Biffi, Mauro, additional, Campo, Gianluca Calogero, additional, Ferrari, Roberto, additional, Ferlini, Alessandra, additional, and Gualandi, Francesca, additional

Published
2020
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139. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Author

Neri, Marcella, primary, Rossi, Rachele, additional, Trabanelli, Cecilia, additional, Mauro, Antonio, additional, Selvatici, Rita, additional, Falzarano, Maria Sofia, additional, Spedicato, Noemi, additional, Margutti, Alice, additional, Rimessi, Paola, additional, Fortunato, Fernanda, additional, Fabris, Marina, additional, Gualandi, Francesca, additional, Comi, Giacomo, additional, Tedeschi, Silvana, additional, Seia, Manuela, additional, Fiorillo, Chiara, additional, Traverso, Monica, additional, Bruno, Claudio, additional, Giardina, Emiliano, additional, Piemontese, Maria Rosaria, additional, Merla, Giuseppe, additional, Cau, Milena, additional, Marica, Monica, additional, Scuderi, Carmela, additional, Borgione, Eugenia, additional, Tessa, Alessandra, additional, Astrea, Guia, additional, Santorelli, Filippo Maria, additional, Merlini, Luciano, additional, Mora, Marina, additional, Bernasconi, Pia, additional, Gibertini, Sara, additional, Sansone, Valeria, additional, Mongini, Tiziana, additional, Berardinelli, Angela, additional, Pini, Antonella, additional, Liguori, Rocco, additional, Filosto, Massimiliano, additional, Messina, Sonia, additional, Vita, Gianluca, additional, Toscano, Antonio, additional, Vita, Giuseppe, additional, Pane, Marika, additional, Servidei, Serenella, additional, Pegoraro, Elena, additional, Bello, Luca, additional, Travaglini, Lorena, additional, Bertini, Enrico, additional, D'Amico, Adele, additional, Ergoli, Manuela, additional, Politano, Luisa, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Mercuri, Eugenio, additional, and Ferlini, Alessandra, additional

Published
2020
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140. Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Author

Capitanio, Daniele, primary, Moriggi, Manuela, additional, Torretta, Enrica, additional, Barbacini, Pietro, additional, De Palma, Sara, additional, Viganò, Agnese, additional, Lochmüller, Hanns, additional, Muntoni, Francesco, additional, Ferlini, Alessandra, additional, Mora, Marina, additional, and Gelfi, Cecilia, additional

Published
2020
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141. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

Author

Milandri, Agnese, primary, Farioli, Andrea, additional, Gagliardi, Christian, additional, Longhi, Simone, additional, Salvi, Fabrizio, additional, Curti, Stefania, additional, Foffi, Serena, additional, Caponetti, Angelo Giuseppe, additional, Lorenzini, Massimiliano, additional, Ferlini, Alessandra, additional, Rimessi, Paola, additional, Mattioli, Stefano, additional, Violante, Francesco Saverio, additional, and Rapezzi, Claudio, additional

Published
2020
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143. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure

Author

Gagliardi, Christian, Perfetto, Federico, Lorenzini, Massimiliano, Ferlini, Alessandra, Salvi, Fabrizio, Milandri, Agnese, Quarta, Cristina Candida, Taborchi, Giulia, Bartolini, Simone, Frusconi, Sabrina, Martone, Raffaele, Cinelli, Michele Mario, Foffi, Serena, Reggiani, Maria Letizia Bacchi, Fabbri, Gioele, Cataldo, Paolo, Cappelli, Francesco, Rapezzi, Claudio, Gagliardi, Christian, Perfetto, Federico, Lorenzini, Massimiliano, Ferlini, Alessandra, Salvi, Fabrizio, Milandri, Agnese, Quarta, Cristina Candida, Taborchi, Giulia, Bartolini, Simone, Frusconi, Sabrina, Martone, Raffaele, Cinelli, Michele Mario, Foffi, Serena, Reggiani, Maria Letizia Bacchi, Fabbri, Gioele, Cataldo, Paolo, Cappelli, Francesco, and Rapezzi, Claudio

Subjects
Male, Cardiomyopathy, Heart Ventricles, Left, DNA Mutational Analysis, Amyloid Neuropathies, Transthyretin, Ventricular Function, Left, NO, Electrocardiography, Familial, Amyloidosi, 80 and over, Ventricular Function, Humans, LS2_6, Aged, Retrospective Studies, Aged, 80 and over, Heart Failure, Amyloid Neuropathies, Familial, Incidence, Amyloidosis, Heart failure, Cardiomyopathies, Echocardiography, Female, Follow-Up Studies, Italy, Mutation, Phenotype, Survival Rate, Cardiology and Cardiovascular Medicine
Abstract

Aims: Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin-related hereditary amyloidosis (ATTRm), can present with several phenotypes, depending mainly on the specific mutation. We aimed to characterize the phenotype of patients with ATTRm due to Ile68Leu mutation, comparing them to patients with wild-type transthyretin amyloidosis (ATTRwt). Methods and results: Data of 67 Ile68Leu ATTRm patients from two Italian referral centres (Bologna and Florence) were retrospectively analysed and compared to those of 82 ATTRwt patients. Fifty-five unaffected mutation carriers were also analysed. Cumulative disease onset was 50% at age 71. A total of 56/67 (84%) patients had a predominantly cardiac phenotype at presentation with concentric increase in left ventricular wall thickness [median 17 mm], and normal or near normal left ventricular ejection fraction (79% of patients). Low QRS voltages were present only in 29% of patients but voltage/mass ratio was low (0.5). Carpal tunnel syndrome was noted in 43%. The overall phenotypic profile was similar to ATTRwt but Ile68Leu ATTRm patients typically presented younger (median 71 vs. 78 years) and were more likely to have (mild) symptomatic neurological involvement (19% vs. 2%). Male prevalence was 44% in unaffected mutation carriers and 78% in affected patients. Age-adjusted survival was comparable between groups. Conclusions: Ile68Leu ATTRm is a cause of familial amyloidotic cardiomyopathy endemic in central-northern Italy and presents as hypertrophic/restrictive cardiomyopathy quite similar to ATTRwt. Male preponderance is present in affected patients but not in unaffected mutation carriers. Age-adjusted survival is similar to ATTRwt.

Published
2018

148. A novel Alu (ital)-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy

Author

Ferlini, Alessandra, Galie, Nazzareno, Merlini, Luciano, Sewry, Caroline, Branzi, Angelo, and Muntoni, Francesco

Subjects
Genetic disorders -- Research, Cardiomyopathy, Dilated -- Genetic aspects, Dystrophin -- Genetic aspects, Sex-linkage (Genetics) -- Research, Biological sciences
Abstract

A genome sequence with features typical of Alu(ital)-like mobile elements rearranged into the dystrophin gene in a family affected by X-linked dilated cardiomyopathy has been characterized and identified. Complexity of the pathogenic mechanism that leads to X-linked dilated cardiomyopathy has been reconfirmed by the research focusing on an Italian family of Sardinian descent. It seems there are differences in tissue-specific expression of dystrophin mutations that may be a common factor in the condition.

Published
1998

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