A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis von Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N.B., Genazzani, A., Bertini, E., Antonini, G.

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Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series von Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D'Arrigo, S., Tessa, A., Ciano, C., Santorelli, F. M., Savoiardo, M., Mariotti, C.

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Expanding the histopathological spectrum of CFL2‐related myopathies von Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, A.

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Neuromyopathy with cataracts and glaucoma: A novel syndrome caused by recessive mutations in POLG1 von Castiglioni, C, Bertini, E, Udd, B, Avaria, M, Fattori, F, Carrozzo, R, Tasca, G

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The role of hydropower in decarbonisation scenarios von Catania, M., Parolin, F., Fattori, F., Colbertaldo, P.

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A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies von D’Amico, A, Fattori, F, Bellacchio, E, Catteruccia, M, Servidei, S, Bertini, E

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Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation von Garibaldi, M, Romero, N, Böhm, J, Ottaviani, P, Fattori, F, Laschena, F, Laporte, J, Bertini, E, Antonini, G

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Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1 von Garibaldi, M, Fattori, F, Riva, B, Labasse, C, Brochier, G, Ottaviani, P, Laschena, F, Romero, N, Genazzani, A, Bertini, E, Antonini, G

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Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1 -related myopathy von Tasca, G, Fattori, F, Cassandrini, D, Catteruccia, M, Verardo, M, Vasco, G, Monforte, M, Ricci, E, Bertini, E, D'Amico, A

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Muscle imaging in STIM1-mutated tubular aggregate myopathy patients von Tasca, G, D'Amico, A, Monforte, M, Nadaj-Pakleza, A, Vialle, M, Fattori, F, Vissing, J, Ricci, E, Bertini, E

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Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods von Tasca, G, Fattori, F, Monforte, M, Hedberg-Oldfors, C, Sabatelli, M, Udd, B, Boldrini, R, Bertini, E, Ricci, E, Oldfors, A

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X-linked myotubular myopathy in females von Fiorillo, C, Fattori, F, Astrea, G, Pedemonte, M, Rubegni, A, Trucco, F, Tessa, A, Savarese, M, Baldacci, J, Broda, P, Bertini, E, Minetti, C, Nigro, V, Bruno, C, Santorelli, F

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Late-onset congenital myopathies: Clinical and molecular features von Maggi, L, Colombo, I, Fattori, F, Fiorillo, C, Vita, G, Magri, F, Pane, M, D'Amico, A, Bernasconi, P, Mora, M, Messina, S, Santorelli, F, Mercuri, E, Bertini, E, Pegoraro, E, Comi, G, Moggio, M, Morandi, L, Bruno, C

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Assessing district heating potential at large scale: Presentation and application of a spatially-detailed model to optimally match heat sources and demands von Spirito, G., Dénarié, A., Fattori, F., Muliere, G., Motta, M., Persson, U.

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VP188 Novel PIEZO2 variants in a cohort of arthrogryposis syndrome von Jofre, J., Suarez, B., Calcagno, G., Hervias, C., Fattori, F., Bertini, E., Castiglioni, C.

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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays von H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.

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P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI von Castiglioni, C, Cassandrini, D, Fattori, F, Bellacchio, E, Alvarez, K, D’Amico, A, Gejman, R, Díaz, J, Santorelli, F.M, Bevilacqua, J.A, Bertini, E

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P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies von Fattori, F, Maggi, L, Bruno, C, Codemo, V, Tasca, G, Battini, R, Berardinelli, A, Catteruccia, M, Cassandrini, D, Fiorillo, C, Pane, M, Pegoraro, E, Mora, M, Morandi, L, Comi, P.G, Mercuri, E, Santoro, L, Santorelli, F.M, Bertini, E, D’Amico, A

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A novel mutation in the SACS gene associated with a complicated form of spastic ataxia von Masciullo, M., Modoni, A., Fattori, F., Santoro, M., Denora, P. S., Tonali, P., Santorelli, F. M., Silvestri, G.

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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking von Schindler, Roland F R, Scotton, Chiara, Zhang, Jianguo, Passarelli, Chiara, Ortiz-Bonnin, Beatriz, Simrick, Subreena, Schwerte, Thorsten, Poon, Kar-Lai, Fang, Mingyan, Rinné, Susanne, Froese, Alexander, Nikolaev, Viacheslav O, Grunert, Christiane, Müller, Thomas, Tasca, Giorgio, Sarathchandra, Padmini, Drago, Fabrizio, Dallapiccola, Bruno, Rapezzi, Claudio, Arbustini, Eloisa, Di Raimo, Francesca Romana, Neri, Marcella, Selvatici, Rita, Gualandi, Francesca, Fattori, Fabiana, Pietrangelo, Antonello, Li, Wenyan, Jiang, Hui, Xu, Xun, Bertini, Enrico, Decher, Niels, Wang, Jun, Brand, Thomas, Ferlini, Alessandra

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