Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

Autor: F. Lamy, A. Ferlini, ERN EURO-NMD Patient Advisory Board, Teresinha Evangelista

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Abstract Background The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives and access to the di

Externí odkaz: https://doaj.org/article/04e318a91bc841ce9f47116002afdb5b

New CACNA1A deletions are associated to migraine phenotypes

Autor: G. S. Grieco, S. Gagliardi, I. Ricca, O. Pansarasa, M. Neri, F. Gualandi, G. Nappi, A. Ferlini, C. Cereda

Publikováno v: The Journal of Headache and Pain, Vol 19, Iss 1, Pp 1-6 (2018)

Abstract Background Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected. Here have been described clinical and

Externí odkaz: https://doaj.org/article/7e029d76e8b543f88c0e7badf79970e5

Teaching Clinical Reasoning to Veterinary Medical Learners with a Case Example

Autor: Amanda (Mandi) Nichole Carr, Gustavo Ferlini Agne, Roy Neville Kirkwood, Kiro Risto Petrovski

Publikováno v: Encyclopedia, Vol 4, Iss 2, Pp 753-775 (2024)

Clinical reasoning is an essential competence of veterinary graduands. It is a complex competence with cognitive, metacognitive, social, and situational activities. The literature on clinical reasoning in veterinary medical education is relatively sc

Externí odkaz: https://doaj.org/article/ca15db59661f42a48f778e959e2e9f94

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Autor: Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara, Souza, Cleide dos Santos, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Jones, Ashley, Dewan, Ramita, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J.B., van den Berg, Leonard H., D’Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O’Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., Ferraiuolo, Laura

Publikováno v: In Cell Genomics 13 November 2024 4(11)

Comparison of a hand-held high-end resolution infrared thermography (FLIR P640) and a smartphone infrared thermographic device (FLIR One) for the assessment of skin surface temperature after anaesthetising the median nerve in Healthy horses.

Autor: Ferlini Agne, Gustavo¹ (AUTHOR), Adamson, Kellie¹ (AUTHOR), McGlinchey, Leah² (AUTHOR), Kravchuk, Olena³ (AUTHOR), Santos, Luiz⁴ (AUTHOR) Luiz.Santos@glasgow.ac.uk, Schumacher, John² (AUTHOR)

Publikováno v: PLoS ONE. 8/30/2024, Vol. 19 Issue 8, p1-17. 17p.