Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype von Nizzardo, M., Simone, C., Rizzo, F., Ulzi, G., Ramirez, A., Rizzuti, M., Bordoni, A., Bucchia, M., Gatti, S., Bresolin, N., Comi, G. P., Corti, S.

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The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel von Altamura, C, Lucchiari, S, Sahbani, D, Ulzi, G, Comi, GP, D'Ambrosio, P, Petillo, R, Politano, L, Vercelli, L, Mongini, T, Dotti, MT, Cardani, R, Meola, G, Lo Monaco, M, Matthews, E, Hanna, MG, Carratù, MR, Conte, D, Imbrici, P, Desaphy, J-F

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The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel von Altamura, Concetta, Lucchiari, Sabrina, Sahbani, Dalila, Ulzi, Gianna, Comi, Giacomo P., D'Ambrosio, Paola, Petillo, Roberta, Politano, Luisa, Vercelli, Liliana, Mongini, Tiziana, Dotti, Maria Teresa, Cardani, Rosanna, Meola, Giovanni, Lo Monaco, Mauro, Matthews, Emma, Hanna, Michael G., Carratù, Maria Rosaria, Conte, Diana, Imbrici, Paola, Desaphy, Jean‐François

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Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches von Nizzardo, Monica, Simone, Chiara, Dametti, Sara, Salani, Sabrina, Ulzi, Gianna, Pagliarani, Serena, Rizzo, Federica, Frattini, Emanuele, Pagani, Franco, Bresolin, Nereo, Comi, Giacomo, Corti, Stefania

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Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients von Ulzi, Gianna, Lecchi, Marzia, Sansone, Valeria, Redaelli, Elisa, Corti, Eleonora, Saccomanno, Domenica, Pagliarani, Serena, Corti, Stefania, Magri, Francesca, Raimondi, Monika, D'Angelo, Grazia, Modoni, Anna, Bresolin, Nereo, Meola, Giovanni, Wanke, Enzo, Comi, Giacomo P, Lucchiari, Sabrina

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Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita von Ginanneschi, Federica, Mignarri, Andrea, Lucchiari, Sabrina, Ulzi, Gianna, Comi, Giacomo P, Rossi, Alessandro, Dotti, Maria Teresa

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In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay von Ulzi, Gianna, Sansone, Valeria A, Magri, Francesca, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P, Lucchiari, Sabrina

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THE KNOTS DECORATION IN THE ISLAMIC ARTS OF KHORASAN PROVINCE FROM THE 10TH TO THE 13TH G. CENTURIES von Gaber, N

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ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation von Imbrici, P., Maggi, L., Mangiatordi, G. F., Dinardo, M. M., Altamura, C., Brugnoni, R., Alberga, D., Pinter, G. Lauria, Ricci, G., Siciliano, G., Micheli, R., Annicchiarico, G., Lattanzi, G., Nicolotti, O., Morandi, L., Bernasconi, P., Desaphy, J.‐F., Mantegazza, R., Camerino, D. Conte

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Description of a novel c.374 G>A mutation in becker disease von Hoche, Franziska, Qirshi, Mayyada, Heidegger, Tonio, Kang, Jun-Suk, Koenig, Rainer, Kieslich, Matthias

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Translating genetic and functional data into clinical practice: a series of 223 families with myotonia von Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope

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Synaptotagmin 13 is neuroprotective across motor neuron diseases von Nizzardo, M., Taiana, M., Rizzo, F., Aguila Benitez, J., Nijssen, J., Allodi, I., Melzi, V., Bresolin, N., Comi, G. P., Hedlund, E., Corti, S.

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Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children von Tunçer, Gökçen Öz, Sanri, Aslıhan, Aydin, Seren, Hergüner, Özlem M, Özgün, Nezir, Kömür, Mustafa, İçağasioğlu, Dilara F, Toker, Rabia Tütüncü, Yilmaz, Sanem, Arslan, Elif Acar, Güngör, Mesut, Kutluk, Gültekin, Erol, İlknur, Mert, Gülen Gül, Polat, Burçin Gönüllü, Aksoy, Ayşe

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Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita von Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François

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Characteristics of elementary school children's daily exposure to black carbon (BC) in Korea von Jeong, Hyeran, Park, Donguk

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Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover stud... von Hoogeveen, Irene J., Boer, Foekje, Boonstra, Willemijn F., Schaaf, Caroline J., Steuerwald, Ulrike, Sibeijn‐Kuiper, Anita J., Vegter, Riemer J. K., Hoeven, Johannes H., Heiner‐Fokkema, M. Rebecca, Clarke, Kieran C., Cox, Pete J., Derks, Terry G. J., Jeneson, Jeroen A. L.

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Muscle channelopathies: recent advances in genetics, pathophysiology and therapy von Suetterlin, Karen, Männikkö, Roope, Hanna, Michael G

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An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients von Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H., Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Li, Jonathan, Lim, Ryan G., Kaye, Julia A., Dardov, Victoria, Coyne, Alyssa N., Wu, Jie, Milani, Pamela, Cheng, Andrew, Thompson, Terri G., Ornelas, Loren, Frank, Aaron, Adam, Miriam, Banuelos, Maria G., Casale, Malcolm, Cox, Veerle, Escalante-Chong, Renan, Daigle, J. Gavin, Gomez, Emilda, Hayes, Lindsey, Holewenski, Ronald, Lei, Susan, Lenail, Alex, Lima, Leandro, Mandefro, Berhan, Matlock, Andrea, Panther, Lindsay, Patel-Murray, Natasha Leanna, Pham, Jacqueline, Ramamoorthy, Divya, Sachs, Karen, Shelley, Brandon, Stocksdale, Jennifer, Trost, Hannah, Wilhelm, Mark, Venkatraman, Vidya, Wassie, Brook T., Wyman, Stacia, Yang, Stephanie, Van Eyk, Jennifer E., Lloyd, Thomas E., Finkbeiner, Steven, Fraenkel, Ernest, Rothstein, Jeffrey D., Sareen, Dhruv, Svendsen, Clive N., Thompson, Leslie M.

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Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients von Vindas-Smith, Rebeca, Fiore, Michele, Vásquez, Melissa, Cuenca, Patricia, del Valle, Gerardo, Lagostena, Laura, Gaitán-Peñas, Héctor, Estevez, Raúl, Pusch, Michael, Morales, Fernando

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HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons von Heilman, Patrick L., Song, SungWon, Miranda, Carlos J., Meyer, Kathrin, Srivastava, Amit K., Knapp, Amy, Wier, Christopher G., Kaspar, Brian K., Kolb, Stephen J.

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