Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome von Nicoletti, T., Modoni, A., Silvestri, G.

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Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia von Perna, A., Masciullo, M., Modoni, A., Cellini, E., Parrini, E., Ricci, E., Donati, A. M., Silvestri, G.

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DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 von Di Nottia, M., Masciullo, M., Verrigni, D., Petrillo, S., Modoni, A., Rizzo, V., Di Giuda, D., Rizza, T., Niceta, M., Torraco, A., Bianchi, M., Santoro, M., Bentivoglio, A.R., Bertini, E., Piemonte, F., Carrozzo, R., Silvestri, G.

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A man with sarcoidosis and slurred speech von Nicoletti, T., Gaudino, S., Colacicco, G., Ausili Cefaro, L., Tasca, G., Guglielmi, V., Modoni, A., Gessi, M., Silvestri, G., Frisullo, G.

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Cognitive impairment in myotonic dystrophy type 1 (DM1): A longitudinal follow-up study von Modoni, A., Silvestri, G., Vita, M. Gabriella, Quaranta, D., Tonali, P. A., Marra, C.

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Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study von Masciullo, M, Iannaccone, E, Bianchi, M.L.E, Santoro, M, Conte, G, Modoni, A, Monforte, M, Tasca, G, Laschena, F, Ricci, E, Silvestri, G

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Teaching NeuroImages: cochleitis: a rare cause of acute deafness in a patient with HCV von Luigetti, M, Cianfoni, A, Modoni, A, Conte, A, Conti, G, Sabatelli, M

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Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies von Masciullo, M., Modoni, A., Tessa, A., Santorelli, F. M., Rizzo, V., D'Amico, G., Laschena, F., Tartaglione, T., Silvestri, G.

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Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS von Masciullo, M., Silvestri, G., Modoni, A., Tessa, A., Bianchi, M.L.E., Santorelli, F.M.

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P10.4 Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) α1s subunit (Cav 1.1) pre-mRNA splicing and correlation with intracellular calcium signals in my... von Santoro, M, Piacentini, R, Masciullo, M, Grassi, C, Modoni, A, Ricci, E, Silvestri, G

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A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia von Luigetti, M, Modoni, A, Renna, R, Silvestri, G, Ricci, E, Montano, N, Tasca, G, Papacci, M, Monforte, M, Conte, A, Pomponi, M.G, Sabatelli, M

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Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy von MODONI, A, MIRABELLA, M, MADIA, F, SANNA, T, LANZA, G, TONALI, P. A, SILVESTRI, G

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A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy von Tessa, A., Silvestri, G., de Leva, M. F., Modoni, A., Denora, P. S., Masciullo, M., Dotti, M. T., Casali, C., Melone, M. A. B., Federico, A., Filla, A., Santorelli, F. M.

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Neuropsychiatric lupus erythematosus von Vadacca, M, Buzzulini, F, Rigon, A, Coppolino, G, Palma Modoni, A, Massa, R, Afeltra, A

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G.P.100 Biophysical characterization of hClC-1 chloride channel mutations associated with myotonia congenita von Desaphy, J.F, Gramegna, G, Dinardo, M.M, Modoni, A, Lo Monaco, M, Conte Camerino, D

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P10.5 New mutations in muscle voltage-gated sodium channel and their biophysical properties von Modoni, A, Pagliarani, S, Silvestri, G, D'Amico, A, Redaelli, E, Wanke, E, Comi, G.P, Lo Monaco, M

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Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease von Traverso, M, Bruno, C, Broccolini, A, Sotgia, F, Donati, M A, Assereto, S, Gazzerro, E, Lo Monaco, M, Modoni, A, D’Amico, A, Gasperini, S, Ricci, E, Zara, F, Lisanti, M, Minetti, C

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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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Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression von Pescatori, Mario, Broccolini, Aldobrando, Minetti, Carlo, Bertini, Enrico, Bruno, Claudio, D'amico, Adele, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, Vincenzo, Modoni, Anna, Pedemonte, Marina, Tasca, Giorgio, Galluzzi, Giuliana, Mercuri, Eugenio, Tonali, Pietro A, Ricci, Enzo

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Promoting healthy teenage behaviour across three European countries through the use of a novel smartphone technology platform, PEGASO fit for future: study protocol of a quasi-expe... von Puigdomenech, Elisa, Martin, Anne, Lang, Alexandra, Adorni, Fulvio, Gomez, Santiago Felipe, McKinstry, Brian, Prinelli, Federica, Condon, Laura, Rashid, Rajeeb, Caon, Maurizio, Atkinson, Sarah, Lafortuna, Claudio L, Ciociola, Valentina, Hanley, Janet, McCloughan, Lucy, Castell, Conxa, Espallargues, Mireia

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