G.P.11.05 A life threatening case of α-enolase deficiency von Musumeci, O, Rodolico, C, Ciranni, A, Aguennouz, M, Lanzano, N, Toscano, A

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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial von Pareyson, Davide, Dr, Reilly, Mary M, Prof, Schenone, Angelo, MD, Fabrizi, Gian Maria, MD, Cavallaro, Tiziana, MD, Santoro, Lucio, Prof, Vita, Giuseppe, Prof, Quattrone, Aldo, Prof, Padua, Luca, MD, Gemignani, Franco, MD, Visioli, Francesco, PhD, Laurà, Matilde, MD, Radice, Davide, MSc, Calabrese, Daniela, MSc, Hughes, Richard AC, Prof, Solari, Alessandra, MD

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G.P.16.08. Two novel mutations associated with muscle phosphoglycerate mutase (PGAM) deficiency von Musumeci, O, Toscano, A, Naini, A, Vissing, J, Lanzano, N, DiMauro, S

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Novel SHOX Gene Mutation in a Short Boy with Becker Muscular Dystrophy: Double Trouble in Two Adjacent Genes von Messina, M.F., Aguennouz, M., Arrigo, T., Rodolico, C., Valenzise, M., Musumeci, O., Vita, G., Lanzano, N., De Luca, F.

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G.P.5.04 ANT1 expression and RAGE-NF-κB pathway in sporadic inclusion body myositis von Rodolico, C, Cianci, V, Macaione, V, Aguennouz, M, Mazzeo, A, Ciranni, A, Lanzano, N, de Pasquale, M.G, Vita, G.L, Toscano, A, Vita, G

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M.P.2.14 Muscle gene expression profile in adult onset acid maltase deficiency von Musumeci, O, Aguennouz, M, Rodolico, C, Lanzano, N, Maio, F, Cianci, V, Ciranni, A, Vita, G, Toscano, A

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G.P.12.03 Telomere shortening and telomere-associated proteins in Duchenne muscular dystrophy von Vita, G.L, Aguennouz, M, Cama, L, De Pasquale, M, Lanzano, N, Ciranni, A, Rodolico, C, Messina, C, Vita, G

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G.P.3.09 MicroRNA expression in Duchenne and Becker muscular dystrophy von Aguennouz, M, Musumeci, O, Lanzano, N, Soufiani, S, Crupi, R, Rodolico, C, Toscano, A, Vita, G

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G.P.12.01 Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: A double trouble in two adjacent genes von Messina, M, Aguennouz, M, Rodolico, C, Aversa, T, Musumeci, O, Vita, G, Lanzano, N, Rulli, I, Luca, F. De

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PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker von NOBBIO, Lucilla, VISIGALLI, Davide, RADICE, Davide, FIORINA, Elisabetta, SOLARI, Alessandra, LAURIA, Giuseppe, REILLY, Mary M, SANTORO, Lucio, SCHENONE, Angelo, PAREYSON, Davide

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Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients von Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L, Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C, Rautenstrauss, Bernd, Schnizer, Tuuli J, Schenone, Angelo, Seeman, Pavel, Kadian, Chandini, Schreiber, Olivia, Angarita, Natalia G, Fabrizi, Gian Maria, Gemignani, Franco, Padua, Luca, Santoro, Lucio, Quattrone, Aldo, Vita, Giuseppe, Calabrese, Daniela, Young, Peter, Laurà, Matilde, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Shy, Michael E, Reilly, Mary M, Pareyson, Davide, Sereda, Michael W

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Reliability of clinical outcome measures in Charcot-Marie-Tooth disease von Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D

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Exploring the impact of ChatGPT in psychoeducation for individuals with mood disorders von Attanasio, F., Obumselu, G.A., Antonini, C., Prato, M., Lanzano, N., Fazio, V., Fregna, L., Colombo, C.

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A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRI AAL): The study protocol [Eud... von Pareyson, Davide, Schenone, Angelo, Fabrizi, Gian Maria, Santoro, Lucio, Padua, Luca, Quattrone, Aldo, Vita, Giuseppe, Gemignani, Franco, Visioli, Francesco, Solari, Alessandra

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Probing clustering in excited alpha-conjugate nuclei von Borderie, B., Raduta, Ad.R., Ademard, G., Rivet, M.F., De Filippo, E., Geraci, E., Le Neindre, N., Alba, R., Amorini, F., Cardella, G., Chatterjee, M., Guinet, D., Lautesse, P., La Guidara, E., Lanzalone, G., Lanzano, G., Lombardo, I., Lopez, O., Maiolino, C., Pagano, A., Papa, M., Pirrone, S., Politi, G., Porto, F., Rizzo, F., Russotto, P., Wieleczko, J.P.

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Evidence for α-particle condensation in nuclei from the Hoyle state deexcitation von Raduta, Ad.R., Borderie, B., Geraci, E., Le Neindre, N., Napolitani, P., Rivet, M.F., Alba, R., Amorini, F., Cardella, G., Chatterjee, M., De Filippo, E., Guinet, D., Lautesse, P., La Guidara, E., Lanzalone, G., Lanzano, G., Lombardo, I., Lopez, O., Maiolino, C., Pagano, A., Pirrone, S., Politi, G., Porto, F., Rizzo, F., Russotto, P., Wieleczko, J.P.

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Fragmentation studies with the CHIMERA detector at LNS in Catania: recent progress von Pagano, A., Alderighi, M., Amorini, F., Anzalone, A., Arena, L., Auditore, L., Baran, V., Bartolucci, M., Berceanu, I., Blicharska, J., Brzychczyk, J., Bonasera, A., Borderie, B., Bougault, R., Bruno, M., Cardella, G., Cavallaro, S., Chatterjee, M.B., Chbihi, A., Cibor, J., Colonna, M., D'Agostino, M., Dayras, R., De Filippo, E., Di Toro, M., Gawlikowicz, W., Geraci, E., Giustolisi, F., Grzeszczuk, A., Guazzoni, P., Guinet, D., Iacono-Manno, M., Kowalski, S., La Guidara, E., Lanzano, G., Lanzalone, G., Le Neindre, N., Li, S., Lo Nigro, S., Maiolino, C., Majka, Z., Manfredi, G., Paduszynski, T., Papa, M., Petrovici, M., Piasecki, E., Pirrone, S., Planeta, R., Politi, G., Pop, A., Porto, F., Rivet, M.F., Rosato, E., Rizzo, F., Russo, S., Russotto, P., Sassi, M., Sechi, G., Simion, V., Siwek-Wilczynska, K., Skwira, I., Sperduto, M.L., Steckmeyer, J.C., Swiderski, L., Trifiro`, A., Trimarchi, M., Vannini, G., Vigilante, M., Wieleczko, J.P., Wilczynski, J., Wu, H., Xiao, Z., Zetta, L., Zipper, W.

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Factors Affecting Growth in Infants with Single Ventricle Physiology: A Report from the Pediatric Heart Network Infant Single Ventricle Trial von Williams, Richard V., MD, Zak, Victor, PhD, Ravishankar, Chitra, MD, Altmann, Karen, MD, Anderson, Jeffrey, MD, Atz, Andrew M., MD, Dunbar-Masterson, Carolyn, RN, Ghanayem, Nancy, MD, Lambert, Linda, MSN, Lurito, Karen, MD, Medoff-Cooper, Barbara, PhD, RN, FAAN, Margossian, Renee, MD, Pemberton, Victoria L., RNC, MS, Russell, Jennifer, MD, Stylianou, Mario, PhD, Hsu, Daphne, MD

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Alpha-particle clustering in excited alpha-conjugate nuclei von Borderie, B, Raduta, Ad R, Ademard, G, Rivet, M F, De Filippo, E, Geraci, E, Le Neindre, N, Alba, R, Amorini, F, Cardella, G, Chatterjee, M, Guinet, D, Lautesse, P, La Guidara, E, Lanzalone, G, Lanzano, G, Lombardo, I, Lopez, O, Maiolino, C, Pagano, A, Papa, M, Pirrone, S, Politi, G, Porto, F, Rizzo, F, Russotto, P, Wieleczko, J P

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SMA-MAP: a plasma protein panel for spinal muscular atrophy von Kobayashi, Dione T, Shi, Jing, Stephen, Laurie, Ballard, Karri L, Dewey, Ruth, Mapes, James, Chung, Brett, McCarthy, Kathleen, Swoboda, Kathryn J, Crawford, Thomas O, Li, Rebecca, Plasterer, Thomas, Joyce, Cynthia, Chung, Wendy K, Kaufmann, Petra, Darras, Basil T, Finkel, Richard S, Sproule, Douglas M, Martens, William B, McDermott, Michael P, De Vivo, Darryl C, Walker, Michael G, Chen, Karen S

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