Lomitapide for the treatment of paediatric patients with homozygous familial hypercholesterolaemia (APH-19): results from the efficacy phase of an open-label, multicentre, phase 3 study

Authors: Masana, Luis ^*, Zambon, Alberto, Schmitt, Claus Peter, Taylan, Christina, Driemeyer, Joenna, Cohen, Hofit, Buonuomo, Paola Sabrina, Alashwal, Abdullah, Al-Dubayee, Mohammed, Kholaif, Naji, Diaz-Diaz, José Luis, Maatouk, Faouzi, Martinez-Hervas, Sergio, Mangal, Brian, Löwe, Sandra, Cunningham, Tracy

Source: In The Lancet Diabetes & Endocrinology December 2024 12(12):880-889

A collaborative effort across Africa to investigate risk factors and outcomes of premature acute coronary syndrome: Protocol for the EAS Lipid Registry of Africa (LIPRA)

Authors: Reda, Ashraf, Lyons, Alexander R.M., Zambon, Alberto, Bendary, Ahmed, Al-Khnifsawi, Mutaz, Gamra, Habib, Marais, David, Ogah, Okechukwu S., Seleshi, Tigist, Suliman, Ahmed A.A., Mwita, Julius C., Damasceno, Albertino, Dzudie, Anastase, Elbahry, Atef, Farag, Elsayed, Fekadu, Chala, Mbau, Lilian, Mujahed, Mohammed, Minja, Rosemary P., Samia, Bernard, Sani, Mahmoud, Appiah, Lambert T., Tselepis, Alexandros

Source: In Atherosclerosis Plus December 2024 58:46-50

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Authors: Adang, Laura Ann, Groeschel, Samuel, Grzyb, Chloe, D'Aiello, Russell, Gavazzi, Francesco, Sherbini, Omar, Bronner, Nowa, Patel, Akshilkumar, Vincent, Ariel, Sevagamoorthy, Anjana, Mutua, Sylvia, Muirhead, Kayla, Schmidt, Johanna, Pizzino, Amy, Yu, Emily, Jin, Danielle, Eichler, Florian, Fraser, Jamie L., Emrick, Lisa, Van Haren, Keith, Boulanger, Jean-Martin, Ruzhnikov, Maura, Sylvain, Michel, Nguyen, Cam-Tu Émilie, Potic, Ana, Keller, Stephanie, Fatemi, Ali, Uebergang, Eloise, Poe, Michele, Yazdani, Pouneh Amir, Bernat, John, Lindstrom, Kristen, Bonkowsky, Joshua L., Bernard, Genevieve, Stutterd, Chloe A., Orchard, Paul, Gupta, Ashish O., Ljungberg, Merete, Groenborg, Sabine, Zambon, Alberto, Locatelli, Sara, Fumagalli, Francesca, Elguen, Saskia, Kehrer, Christiane, Krägeloh-Mann, Ingeborg, Shults, Justine, Vanderver, Adeline, Escolar, Maria L.

Source: In Molecular Genetics and Metabolism August 2024 142(4)

Lipid-lowering in diabetes: An update

Authors: Chait, Alan, Eckel, Robert H., Vrablik, Michal, Zambon, Alberto

Source: In Atherosclerosis July 2024 394

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Authors: Dharmayat, Kanika Inamdar ^*, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S|ulakova, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Raphael S., Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodrıguez, Macıas, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, Berenice Pe~na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., Arjona Villica~na, Ruy D., Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Gardu~no Garcia, Jose J., Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, Ray, Kausik K.

Source: In The Lancet 6-12 January 2024 403(10421):55-66

Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

Authors: Zambon, Alberto A., Ghezzi, Daniele, Baldoli, Cristina, Cutillo, Gianni, Fontana, Katia, Sofia, Valentina, Patricelli, Maria Grazia, Nasca, Alessia, Vinci, Stefano, Spiga, Ivana, Lamantea, Eleonora, Fanelli, Giovanna F., Sora, Maria Grazia Natali, Rovelli, Rosanna, Poloniato, Antonella, Carrera, Paola, Filippi, Massimo, Barera, Graziano

Source: Annals of clinical and translational neurology. 10(10):1844-1853

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196405046.0x000001&indx=1&recIds=ETOCvdc_100196405046.0x000001

Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review

Authors: Cutillo, Gianni, Bonacchi, Raffaello, Cecchetti, Giordano, Bellini, Anna, Vabanesi, Marco, Zambon, Alberto, Natali Sora, Maria Grazia, Baldoli, Cristina, Del Carro, Ubaldo, Minicucci, Fabio, Fanelli, Giovanna F., Filippi, Massimo

Source: Seizure. 109:45-49

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193377833.0x000001&indx=1&recIds=ETOCvdc_100193377833.0x000001

Identifying possible homozygous familial hypercholesterolemia patients: an Italian experts' opinion

Authors: Bilato, Claudio, Zambon, Alberto, Pisciotta, Livia, Citroni, Nadia, Carrubbi, Francesca, Zambon, Sabina, Zenti, Maria Grazia, Vinci, Pierandrea, Biolo, Gianni, Bonomo, Katia

Source: Giornale italiano di cardiologia. 24(1):5-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN631291477&indx=1&recIds=ETOCRN631291477

Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Authors: Anesi, Adriano, Arca, Marcello, Auricchio, Renata, Averna, Maurizio, Baldera, Davide, Banderali, Giuseppe, Beccuti, Guglielmo, Benso, Andrea, Berteotti, Martina, Bertolini, Stefano, Bianconi, Vanessa, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Calabrò, Paolo, Calandra, Sebastiano, Carubbi, Francesca, Cavallaro, Raimondo, Cefalù, Angelo Baldassarre, Cesaro, Arturo, Cipollone, Francesco, Citroni, Nadia, Colombo, Emanuela, Coppola, Chiara, D'Addato, Sergio, Dal Pino, Beatrice, Dalla Nora, Edoardo, De Corrado, Giuseppe, Del Ben, Maria, Di Molfetta, Sergio, Di Taranto, Maria Donata, Fainelli, Giulia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Formisano, Elena, Fortunato, Giuliana, Giaccari, Andrea, Giorgino, Francesco, Grigore, Liliana, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Iughetti, Lorenzo, Lia, Salvatore, Longo, Susanna, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Massini, Giulia, Mazza, Elisa, Melchioda, Elena, Meregalli, Giancarla, Minicocci, Ilenia, Moffa, Simona, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Negri, Emanuele Alberto, Notargiacomo, Serena, Panfili, Filippo Maria, Parati, Gianfranco, Passaro, Angelina, Pavanello, Chiara, Pecchioli, Valerio, Pecchioli, Lorenzo, Pellegatta, Fabio, Perla, Francesco Massimo, Pipolo, Antonio, Piro, Salvatore, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Putotto, Carolina, Repetti, Elena, Rinaldi, Elisabetta, Romandini, Alessandra, Sani, Elena, Sarnari, Silvia, Sarzani, Riccardo, Sbrana, Francesco, Scicali, Roberto, Scuruchi, Michele, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Vinci, Pierandrea, Werba, José Pablo, Zambon, Sabina, Zambon, Alberto, Zenti, Maria Grazia, Casula, Manuela, Gazzotti, Marta, Capra, Maria Elena, Olmastroni, Elena, Galimberti, Federica, Catapano, Alberico L., Pederiva, Cristina

Source: In Atherosclerosis November 2023 385

Non-HDL-cholesterol in dyslipidemia: Review of the state-of-the-art literature and outlook

Authors: Raja, Vikrama, Aguiar, Carlos, Alsayed, Nasreen, Chibber, Yogeyaa S., ElBadawi, Hussein, Ezhov, Marat, Hermans, Michel P., Pandey, Ramesh Chandra, Ray, Kausik K., Tokgözoglu, Lale, Zambon, Alberto, Berrou, Jean-Pascal, Farnier, Michel

Source: In Atherosclerosis October 2023 383

A subgroup analysis of the ODYSSEY APPRISE study: Safety and efficacy of alirocumab in the Italian cohort

Authors: Angelico, Francesco, Cipollone, Francesco, Corghi, Enzo, Faggiano, Pompilio, Greco, Cesare, Guasti, Luigina, Lucchi, Tiziano, Sabba, Carlo, Sarzani, Riccardo, Terrosu, Pierfranco, Zambon, Alberto, Cefalù, Angelo B., Garbelotto, Raffaella, Mombelli, Giuliana, Pirro, Matteo, Rubba, Paolo, Arca, Marcello, Borghi, Claudio, Bonomo, Katia, Gonnelli, Stefano, Massaroni, Katia, Tirone, Giampaolo, Averna, Maurizio

Source: In Nutrition, Metabolism and Cardiovascular Diseases November 2022 32(11):2638-2646

Efficacy and safety of lomitapide in familial chylomicronaemia syndrome

Authors: Cefalù, Angelo B., D'Erasmo, Laura, Iannuzzo, Gabriella, Noto, Davide, Giammanco, Antonina, Montali, Anna, Zambon, Alberto, Forte, Francesco, Suppressa, Patrizia, Giannini, Stefano, Barbagallo, Carlo M., Ganci, Antonina, Nardi, Emilio, Vernuccio, Federica, Caldarella, Rosalia, Ciaccio, Marcello, Arca, Marcello, Averna, Maurizio

Source: In Atherosclerosis October 2022 359:13-19

Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy

Authors: Zambon, Alberto A., Trucco, Federica, Laverty, Aidan, Riley, Mollie, Ridout, Deborah, Manzur, Adnan Y., Abel, Francois, Muntoni, Francesco

Source: Neurology. 99(12):e1216-e1226

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100179679723.0x000001&indx=1&recIds=ETOCvdc_100179679723.0x000001

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

Authors: Zambon, Alberto A., Ayyar Gupta, Vandana, Ridout, Deborah, Manzur, Adnan Y., Baranello, Giovanni, Trucco, Federica, Muntoni, Francesco, Tirupath, Sandya, Douglas, Melanie, McFetridge, Jaci, Parasuraman, Deepak, Alhaswani, Zoya, McMurchie, Heather, Rabb, Rosanna, Majumdar, Anirban, Vijayakumar, Kayal, Amin, Sam, Mason, Faye, Frimpong‐Ansah, Claire, Gibbon, Frances, Parson, Bethan, Naismith, Karen, Burslem, Julie, Baxter, Alex, Eadie, Clare, Horrocks, Iain, Di Marco, Marina, Childs, Anne‐Marie, Pallant, Lindsey, Spinty, Stefan, Shillington, Alison, Gregson, Sarah, Cheshman, Laura, Wraige, Elizabeth, Gowda, Vasantha, Jungbluth, Heinz, Sheehan, Jennie, Hughes, Imelda, Warner, Sinead, Straub, Volker, Guglieri, Michela, Mayhew, Anna, Chow, Gabby, Williamson, Sarah, Willis, Tracey, Kulshrestha, Richa, Emery, Nicholas, Ramdas, Sithara, Ramjattan, Hayley, de Goede, Christian, Selley, Andrea, Ong, Min, White, Kay, Illingworth, Marjorie, Geary, Michelle, Palmer, Jenni, White, Cathy, Greenfield, Kate, Hewawitharana, Gemunu, Julien, Yvonne, Stephens, Elma, Tewnion, Jane, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Ward, Catherine, Wright, Elizabeth, Rylance, Claire

Source: Developmental medicine & child neurology. 64(8):979-988

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175613388.0x000001&indx=1&recIds=ETOCvdc_100175613388.0x000001

The spoils of war and the long-term spoiling of health conditions of entire nations

Authors: Navarese, Eliano P., Grzelakowska, Klaudyna, Mangini, Francesco, Kubica, Jacek, Banach, Maciej, Benn, Marianne, Binder, Christoph J., Borén, Jan, Catapano, Alberico, Kronenberg, Florian, Mallat, Ziad, Moulin, Philippe, Öörni, Katariina, Ray, Kausik K., Roeters van Lennep, Jeanine E., Romeo, Stefano, Tokgozoglu, Lale, von Eckardstein, Arnold, Zambon, Alberto, Raggi, Paolo

Source: Atherosclerosis. 352:76-79

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166523800.0x000001&indx=1&recIds=ETOCvdc_100166523800.0x000001

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

Authors: Fumagalli, Francesca, Calbi, Valeria, Natali Sora, Maria Grazia, Sessa, Maria, Baldoli, Cristina, Rancoita, Paola Maria V, Ciotti, Francesca, Sarzana, Marina, Fraschini, Maddalena, Zambon, Alberto Andrea, Acquati, Serena, Redaelli, Daniela, Attanasio, Vanessa, Miglietta, Simona, De Mattia, Fabiola, Barzaghi, Federica, Ferrua, Francesca, Migliavacca, Maddalena, Tucci, Francesca, Gallo, Vera, Del Carro, Ubaldo, Canale, Sabrina, Spiga, Ivana, Lorioli, Laura, Recupero, Salvatore, Fratini, Elena Sophia, Morena, Francesco, Silvani, Paolo, Calvi, Maria Rosa, Facchini, Marcella, Locatelli, Sara, Corti, Ambra, Zancan, Stefano, Antonioli, Gigliola, Farinelli, Giada, Gabaldo, Michela, Garcia-Segovia, Jesus, Schwab, Laetitia C, Downey, Gerald F, Filippi, Massimo, Cicalese, Maria Pia, Martino, Sabata, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Naldini, Luigi, Biffi, Alessandra, Aiuti, Alessandro

Source: Lancet. 399(10322):372-383

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154108048.0x000001&indx=1&recIds=ETOCvdc_100154108048.0x000001

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

Authors: Zambon, Alberto A., Abel, François, Linnane, Barry, O'Rourke, Declan, Phadke, Rahul, Sewry, Caroline A, Sarkozy, Anna, Manzur, Adnan, Muntoni, Francesco

Source: NEUROMUSCULAR DISORDERS. 32(3):245-254

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157977716.0x000001&indx=1&recIds=ETOCvdc_100157977716.0x000001

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications

Authors: Zambon, Alberto A., Waldrop, Megan A., Alles, Roxane, Weiss, Robert B., Conroy, Sara, Moore-Clingenpeel, Melissa, Previtali, Stefano, Flanigan, Kevin M.

Source: Neurology. 98(7):e730-e738

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100145370378.0x000001&indx=1&recIds=ETOCvdc_100145370378.0x000001

New and Emerging Therapies for Dyslipidemia

Authors: Zambon, Alberto, Averna, Maurizio, D’Erasmo, Laura, Arca, Marcello, Catapano, Alberico

Source: In Endocrinology and Metabolism Clinics of North America September 2022 51(3):635-653

Efficacy and safety of inclisiran a newly approved FDA drug: a systematic review and pooled analysis of available clinical studies

Authors: Cicero, Arrigo F.G., Fogacci, Federica, Zambon, Alberto, Toth, Peter P., Borghi, Claudio

Source: In American Heart Journal Plus: Cardiology Research and Practice January 2022 13